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TSC2
MCID: TBR026
MIFTS: 66

Tuberous Sclerosis 2 (TSC2)

Categories: Cancer diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Tuberous Sclerosis 2

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MalaCards integrated aliases for Tuberous Sclerosis 2:

Name: Tuberous Sclerosis 2 58 12 76 30 6 15 74
Tuberous Sclerosis, Type 2 77 54 41
Tsc2 Angiomyolipomas, Renal, Modifier of 58 6
Tuberous Sclerosis-2 58 13
Tuberous Sclerosis 76 74
Tsc2 58 76
Tuberous Sclerosis Complex 76
Ts 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases are sporadic
highly variable phenotype
genetic heterogeneity (see )
one-third of cases are familial
prevalence of 1 in 6,000 to 1 in 10,000
many studies have reported that the phenotype of tuberous sclerosis-2 (tsc2) is more severe than that of tuberous sclerosis-1 (e.g., lower iq, more seizures, more macules, cust-like cortical tubers)
frequent new mutations (~60%) and/or gonadal mosaicism in tsc2


HPO:

33
tuberous sclerosis 2:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Skin diseases Nephrological diseases Respiratory diseases
See all MalaCards categories (disease lists)


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Summaries for Tuberous Sclerosis 2

About this section
OMIM : 58 Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. These changes can result in epilepsy, learning difficulties, behavioral problems, and renal failure, among other complications (reviews by Crino et al., 2006 and Curatolo et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of tuberous sclerosis, see tuberous sclerosis-1 (191100), caused by mutation in the TSC1 gene (605284) on chromosome 9q34. Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section). (613254)

MalaCards based summary : Tuberous Sclerosis 2, also known as tuberous sclerosis, type 2, is related to polycystic kidney disease, infantile severe, with tuberous sclerosis and subependymal giant cell astrocytoma, and has symptoms including seizures, tremor and back pain. An important gene associated with Tuberous Sclerosis 2 is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Akt Signaling and p70S6K Signaling. The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, brain and skin, and related phenotypes are intellectual disability and hypothyroidism

Disease Ontology : 12 A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has material basis in heterozygous mutation in the TSC2 gene on chromosome 16p13.

UniProtKB/Swiss-Prot : 76 Tuberous sclerosis 2: An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes.

Wikipedia : 77 Tuberous sclerosis complex (TSC), is a rare multisystem genetic disease that causes non-cancerous... more...

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Related Diseases for Tuberous Sclerosis 2

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Diseases in the Tuberous Sclerosis family:

Tuberous Sclerosis 1 Tuberous Sclerosis 2

Diseases related to Tuberous Sclerosis 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 459)
# Related Disease Score Top Affiliating Genes
1 polycystic kidney disease, infantile severe, with tuberous sclerosis 33.0 PKD1 TSC2
2 subependymal giant cell astrocytoma 32.8 MTOR TSC1 TSC2
3 tuberous sclerosis 1 32.2 MTOR TSC1 TSC2
4 familial adenomatous polyposis 3 32.0 NTHL1 TSC2
5 polycystic kidney disease 1 with or without polycystic liver disease 31.8 MTOR PKD1 TSC1 TSC2
6 subependymal glioma 31.8 MTOR TSC1 TSC2
7 benign ependymoma 31.8 MTOR TSC1 TSC2
8 lissencephaly with cerebellar hypoplasia 31.7 TSC1 TSC2
9 adult hepatocellular carcinoma 31.7 TSC1 TSC2
10 kidney benign neoplasm 31.7 MTOR TSC2
11 polycystic liver disease 1 with or without kidney cysts 31.6 PKD1 TSC1 TSC2
12 angiomyolipoma 31.4 MTOR TSC1 TSC2
13 kidney angiomyolipoma 31.4 MTOR TSC1 TSC2
14 congenital heart defects, hamartomas of tongue, and polysyndactyly 30.5 TSC1 TSC2
15 tuberous sclerosis 30.5 IRS1 MTOR NTHL1 PKD1 TSC1 TSC2
16 hepatic angiomyolipoma 30.4 MTOR TSC2
17 renal cell carcinoma, nonpapillary 30.4 IFNG MTOR TSC1 TSC2
18 focal cortical dysplasia, type ii 30.3 MTOR TSC1 TSC2
19 polycystic kidney disease 30.1 MTOR PKD1 TSC2
20 cystic kidney disease 30.1 PKD1 TSC1 TSC2
21 focal epilepsy 30.1 MTOR TSC1 TSC2
22 lymphangioleiomyomatosis 30.0 MTOR TSC1 TSC2
23 autosomal dominant polycystic kidney disease 29.5 IGF1 MTOR PKD1 TSC1 TSC2
24 diabetes mellitus 28.3 IFNG IGF1 IRS1 KCNA2 MTOR
25 gilles de la tourette syndrome 12.2
26 turner syndrome 12.0
27 virus-associated trichodysplasia spinulosa 11.8
28 lennox-gastaut syndrome 11.7
29 timothy syndrome 11.4
30 methylmalonic acidemia 11.3
31 hereditary renal cell carcinoma 11.3
32 renal oncocytoma 11.3
33 trichostasis spinulosa 11.3
34 temperature sensitivity complementation, cell cycle specific, k12 11.2
35 spinal cancer 11.2
36 autosomal dominant café au lait spots 11.2
37 pilocytic astrocytoma 11.2
38 soft tissue sarcoma 11.2
39 brain and spinal tumors 11.2
40 cowden syndrome 1 11.2
41 polycystic kidney disease 4 with or without polycystic liver disease 11.1
42 albinism, oculocutaneous, type ib 11.1
43 corneal dystrophy, fleck 11.0
44 proteus syndrome 11.0
45 central nervous system benign neoplasm 11.0
46 acrofacial dysostosis 11.0
47 alpha thalassemia-intellectual disability syndrome type 1 11.0
48 heart cancer 11.0
49 spinal cord disease 11.0
50 childhood kidney cell carcinoma 11.0

Graphical network of the top 20 diseases related to Tuberous Sclerosis 2:



Diseases related to Tuberous Sclerosis 2
Sources

Symptoms & Phenotypes for Tuberous Sclerosis 2

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Human phenotypes related to Tuberous Sclerosis 2:

33 (show all 28)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 very rare (1%) HP:0001249
2 hypothyroidism 33 HP:0000821
3 precocious puberty 33 HP:0000826
4 seizures 33 HP:0001250
5 cerebral calcification 33 HP:0002514
6 subcutaneous nodule 33 HP:0001482
7 autism 33 HP:0000717
8 attention deficit hyperactivity disorder 33 HP:0007018
9 specific learning disability 33 HP:0001328
10 wolff-parkinson-white syndrome 33 HP:0001716
11 renal cell carcinoma 33 HP:0005584
12 astrocytoma 33 HP:0009592
13 infantile spasms 33 HP:0012469
14 adenoma sebaceum 33 HP:0009720
15 renal cyst 33 HP:0000107
16 shagreen patch 33 HP:0009721
17 cafe-au-lait spot 33 HP:0000957
18 gingival fibromatosis 33 HP:0000169
19 renal angiomyolipoma 33 HP:0006772
20 subependymal nodules 33 HP:0009716
21 achromatic retinal patches 33 HP:0009727
22 cardiac rhabdomyoma 33 HP:0009729
23 ependymoma 33 HP:0002888
24 hemimegalencephaly 33 HP:0007206
25 cortical tubers 33 HP:0009717
26 chordoma 33 HP:0010762
27 optic nerve glioma 33 HP:0009734
28 subungual fibromas 33 HP:0009724

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
hypothyroidism
precocious puberty

Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity
attention deficit disorder

Head And Neck Eyes:
achromatic retinal patches
retinal astrocytoma
optic gliomas

Neoplasia:
ependymoma
renal carcinoma
myocardial rhabdomyoma
multiple bilateral renal angiomyolipoma
giant cell astrocytoma
more
Head And Neck Mouth:
pitted dental enamel
gingival fibroma

Skeletal:
cystic areas of bone rarefaction, esp. phalanges

Neurologic Central Nervous System:
seizures
infantile spasms
subependymal nodules
hamartomatous lesions of the brain
cortical tubers
more
Skin Nails Hair Skin:
shagreen patch
subcutaneous nodules
cafe-au-lait spots
facial angiofibroma (adenoma sebaceum)
white ash leaf-shaped macules
more
Cardiovascular Heart:
cardiac rhabdomyoma
wolf-parkinson-white syndrome

Genitourinary Kidneys:
renal cysts
tumors of the kidney (may progress to malignancy in less than 2%)

Respiratory Lung:
lymphangiomyomatosis, rare

Laboratory Abnormalities:
increased frequency of premature centromere disjunction (pcd) in cultured fibroblasts, esp. chromosome 3
allelic loss on 16p13.3 in angiomyolipoma, cardiac rhabdomyoma, cortical tuber, and giant cell astrocytoma

Clinical features from OMIM:

613254

UMLS symptoms related to Tuberous Sclerosis 2:


seizures, tremor, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, sleeplessness

GenomeRNAi Phenotypes related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

27 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 9.86 DAPK1 MAPKAPK2 MTOR PKD1
2 Decreased viability GR00221-A-1 9.86 DAPK1 MTOR
3 Decreased viability GR00221-A-3 9.86 MAPKAPK2
4 Decreased viability GR00221-A-4 9.86 DAPK1 MTOR
5 Decreased viability GR00342-S-1 9.86 DAPK1 MTOR
6 Decreased viability GR00342-S-2 9.86 MTOR
7 Decreased viability GR00402-S-2 9.86 DAPK1 MAPKAPK2 MTOR PKD1
8 Decreased cell migration GR00055-A-1 9.65 DAPK1 MAPKAPK2 MTOR PKD1 TSC1
9 Decreased substrate adherent cell growth GR00193-A-2 9.55 DAPK1 MAPKAPK2 MTOR
10 Decreased substrate adherent cell growth GR00193-A-3 9.55 DAPK1 MAPKAPK2
11 Decreased viability with paclitaxel GR00179-A-1 9.02 IGF1 MTOR
12 Decreased viability with paclitaxel GR00179-A-2 9.02 IGF1 MTOR
13 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR

MGI Mouse Phenotypes related to Tuberous Sclerosis 2:

47 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.28 DAPK1 IFNG IGF1 IRS1 MAPKAPK2 MTOR
2 homeostasis/metabolism MP:0005376 10.26 DAPK1 IFNG IGF1 IRS1 MAPKAPK2 MTOR
3 cardiovascular system MP:0005385 10.25 IFNG IGF1 IRS1 MAPKAPK2 MTOR NR1H2
4 mortality/aging MP:0010768 10.17 IFNG IGF1 IRS1 KCNA2 MAPKAPK2 MTOR
5 hematopoietic system MP:0005397 10.15 IFNG IGF1 IRS1 MAPKAPK2 MTOR NR1H2
6 endocrine/exocrine gland MP:0005379 10.11 IFNG IGF1 IRS1 MTOR NR1H2 PKD1
7 embryo MP:0005380 10.07 IFNG MAPKAPK2 MTOR PKD1 SERPINC1 TSC1
8 nervous system MP:0003631 10.06 DAPK1 IFNG IGF1 KCNA2 MAPKAPK2 MTOR
9 muscle MP:0005369 10.01 IFNG IGF1 IRS1 MAPKAPK2 MTOR NR1H2
10 liver/biliary system MP:0005370 10 IFNG IRS1 NR1H2 PKD1 SERPINC1 TSC1
11 neoplasm MP:0002006 9.91 IFNG IGF1 MAPKAPK2 NTHL1 PKD1 TSC1
12 normal MP:0002873 9.8 IFNG IGF1 MAPKAPK2 MTOR NR1H2 PKD1
13 renal/urinary system MP:0005367 9.76 DAPK1 IFNG IGF1 MTOR PKD1 SERPINC1
14 respiratory system MP:0005388 9.43 IFNG IGF1 KCNA2 MTOR PKD1 TSC1
15 skeleton MP:0005390 9.23 IFNG IGF1 IRS1 MAPKAPK2 MTOR NR1H2
Sources

Drugs & Therapeutics for Tuberous Sclerosis 2

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Drugs for Tuberous Sclerosis 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 67)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 2, Phase 3,Phase 3,Phase 1 53123-88-9 46835353 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3,Phase 3,Phase 1 22916-47-8 4189
3
Everolimus Approved Phase 2, Phase 3,Phase 3,Phase 1 159351-69-6 70789204 6442177
4 Immunosuppressive Agents Phase 2, Phase 3,Phase 3,Phase 1
5 Anti-Infective Agents Phase 2, Phase 3,Phase 3,Phase 1
6 Anti-Bacterial Agents Phase 2, Phase 3,Phase 3,Phase 1
7 Antibiotics, Antitubercular Phase 2, Phase 3,Phase 3,Phase 1
8 Antifungal Agents Phase 2, Phase 3,Phase 3,Phase 1
9 Immunologic Factors Phase 2, Phase 3,Phase 3,Phase 1
10
Gemcitabine Approved Phase 2 95058-81-4 60750
11
Metformin Approved Phase 2 657-24-9 14219 4091
12
Vemurafenib Approved Phase 2 918504-65-1 23252090 42611257
13
Olaparib Approved Phase 2 763113-22-0 23725625
14
Palbociclib Approved, Investigational Phase 2 571190-30-2 5005498 11431660 5330286
15
Sunitinib Approved, Investigational Phase 2 557795-19-4, 341031-54-7 5329102
16
Crizotinib Approved Phase 2 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
17
nivolumab Approved Phase 2 946414-94-4
18
Pertuzumab Approved Phase 2 380610-27-5, 145040-37-5 2540
19
Adenosine Approved, Investigational Phase 2 58-61-7 60961
20
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
21
Trametinib Approved Phase 2 871700-17-3 11707110
22
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
23
Osimertinib Approved Phase 2 1421373-65-0 71496458
24
Dabrafenib Approved, Investigational Phase 2 1195765-45-7 44462760 44516822
25
Racepinephrine Approved Phase 2 329-65-7 838
26
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
27
afatinib Approved Phase 2 850140-72-6, 439081-18-2 10184653
28
Axitinib Approved, Investigational Phase 2 319460-85-0 6450551
29
Ipilimumab Approved Phase 2 477202-00-9
30
Durvalumab Approved, Investigational Phase 2 1428935-60-7
31
Sorafenib Approved, Investigational Phase 2 284461-73-0 216239 406563
32
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
33
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
34 Ensartinib Investigational Phase 2 1370651-20-9
35
MK-1775 Investigational Phase 2 955365-80-7, 501-36-0 24856436 445154
36
Lapatinib Approved March 2007, Investigational Phase 2 231277-92-2, 388082-78-8 208908 9941095
37
Tremelimumab Investigational Phase 2 745013-59-6
38 Hypoglycemic Agents Phase 2
39
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
40 Antiviral Agents Phase 2
41 Antimetabolites, Antineoplastic Phase 2
42 Antimetabolites Phase 2
43 Protein Kinase Inhibitors Phase 2
44 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
45 Immunoglobulins Phase 2
46 Ado-trastuzumab emtansine Phase 2
47 Antibodies, Monoclonal Phase 2
48
GSK2636771 Phase 2 1372540-25-4 56949517
49 Maytansine Phase 2
50 Antimitotic Agents Phase 2

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3 Everolimus;Placebo
2 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
3 Everolimus in Patients With Advanced Solid Malignancies With TSC1, TSC2, NF1, NF2, or STK11 Mutations Completed NCT02352844 Phase 2 Everolimus
4 Metformin Combined With Chemotherapy for Pancreatic Cancer Completed NCT01210911 Phase 2 gemcitabine;erlotinib;metformin;placebo
5 Everolimus for Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis1 CRAD001CUS232T Completed NCT02332902 Phase 2 Everolimus
6 Sapanisertib in Treating Patients With Locally Advanced or Metastatic Bladder Cancer With TSC1 and/or TSC2 Mutations Recruiting NCT03047213 Phase 2 Sapanisertib
7 PI3K/mTOR Inhibitor LY3023414 in Treating Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphoma, or Histiocytic Disorders With TSC or PI3K/MTOR Mutations (A Pediatric MATCH Treatment Trial) Recruiting NCT03213678 Phase 2 PI3K/mTOR Inhibitor LY3023414
8 Targeted Therapy Directed by Genetic Testing in Treating Pediatric Patients With Relapsed or Refractory Advanced Solid Tumors, Non-Hodgkin Lymphomas, or Histiocytic Disorders (The Pediatric MATCH Screening Trial) Recruiting NCT03155620 Phase 2 Ensartinib;Erdafitinib;Larotrectinib;Olaparib;Palbociclib;PI3K/mTOR Inhibitor LY3023414;Selumetinib Sulfate;Tazemetostat;Ulixertinib;Vemurafenib
9 Targeted Therapy Directed by Genetic Testing in Treating Patients With Advanced Refractory Solid Tumors, Lymphomas, or Multiple Myeloma (The MATCH Screening Trial) Recruiting NCT02465060 Phase 2 Adavosertib;Afatinib;Binimetinib;Capivasertib;Copanlisib;Crizotinib;Dabrafenib;Dasatinib;Defactinib;Erdafitinib;FGFR Inhibitor AZD4547;Larotrectinib;Osimertinib;Palbociclib;PI3K-beta Inhibitor GSK2636771;Sapanisertib;Sunitinib Malate;Taselisib;Trametinib;Vismodegib
10 Canadian Profiling and Targeted Agent Utilization Trial (CAPTUR) Recruiting NCT03297606 Phase 2 Olaparib;Dasatinib;Nivolumab plus Ipilimumab;Axitinib;Bosutinib;Crizotinib;Palbociclib;Sunitinib;Temsirolimus;Erlotinib;Trastuzumab plus Pertuzumab;Vemurafenib plus Cobimetinib;Vismodegib
11 Adapting Treatment to the Tumor Molecular Alterations for Patients With Advanced Solid Tumors: My Own Specific Treatment Recruiting NCT02029001 Phase 2 Nilotinib (400 mg BID);Everolimus (10 mg QD);Sorafenib (400 mg BID);Lapatinib (1500 mg QD);Pazopanib (800 mg QD);Olaparib (300 mg BID)
12 Everolimus for Cancer With TSC1 or TSC2 Mutation Active, not recruiting NCT02201212 Phase 2 Everolimus
13 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Active, not recruiting NCT02484664 Phase 2 Celecoxib
14 A Phase I Study of BKM120 and Everolimus in Advanced Solid Malignancies Completed NCT01470209 Phase 1 BKM120;Everolimus
15 Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex (TuScCom) Recruiting NCT02654340
16 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
17 Expanded Access for ABI-009 in Patients With Advanced Perivascular Epithelioid Cell Tumors (PEComa) and Patients With a Malignancy With Relevant Genetic Mutations or mTOR Pathway Activation Available NCT03817515 ABI-009
18 Multi-center Clinical Study on the Diagnosis and Treatment Management of Rare Neurological Disease in Children Not yet recruiting NCT03649919

Search NIH Clinical Center for Tuberous Sclerosis 2

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Genetic Tests for Tuberous Sclerosis 2

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Genetic tests related to Tuberous Sclerosis 2:

# Genetic test Affiliating Genes
1 Tuberous Sclerosis 2 30 IFNG TSC2
Sources

Anatomical Context for Tuberous Sclerosis 2

About this section

MalaCards organs/tissues related to Tuberous Sclerosis 2:

42
Kidney, Brain, Skin, Eye, Lung, Testes, Thyroid
Sources

Publications for Tuberous Sclerosis 2

About this section

Articles related to Tuberous Sclerosis 2:

(show top 50) (show all 58)
# Title Authors Year
1
Correction: The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 gene product, and enhances its interaction with 14-3-3. ( 30979849 )
2019
2
Mammalian target of rapamycin inhibitors in a patient with polycystic kidney disease-1-tuberous sclerosis-2 contiguous gene syndrome. ( 30588981 )
2018
3
Novel Inflammatory Neuropathology in Immature Brain: (1) Fetal Tuberous Sclerosis, (2) Febrile Seizures, (3) α-B-crystallin, and (4) Role of Astrocytes. ( 29103422 )
2017
4
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. ( 27854360 )
2017
5
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
6
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
7
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions. ( 23519317 )
2013
8
Tuberous sclerosis-2 (TSC2) regulates the stability of death-associated protein kinase-1 (DAPK) through a lysosome-dependent degradation pathway. ( 21134130 )
2011
9
AMP-activated protein kinase inhibits IGF-I signaling and protein synthesis in vascular smooth muscle cells via stimulation of insulin receptor substrate 1 S794 and tuberous sclerosis 2 S1345 phosphorylation. ( 20363874 )
2010
10
Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. ( 19259131 )
2009
11
The G1556S-type tuberin variant suppresses tumor formation in tuberous sclerosis 2 mutant (Eker) rats despite its deficiency in mTOR inhibition. ( 18695678 )
2008
12
Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation. ( 17120248 )
2006
13
Prostaglandin E2 mediates phosphorylation and down-regulation of the tuberous sclerosis-2 tumor suppressor (tuberin) in human endometrial adenocarcinoma cells via the Akt signaling pathway. ( 15579767 )
2004
14
Tuberous sclerosis-2 tumor suppressor modulates ERK and B-Raf activity in transformed renal epithelial cells. ( 14612383 )
2004
15
Homozygosis for (12) CA repeats in the first intron of the human IFN-gamma gene is significantly associated with the risk of aplastic anaemia in Caucasian population. ( 15327519 )
2004
16
Polycystic kidney disease as a result of loss of the tuberous sclerosis 2 tumor suppressor gene during development. ( 12547704 )
2003
17
The p38 and MK2 kinase cascade phosphorylates tuberin, the tuberous sclerosis 2 gene product, and enhances its interaction with 14-3-3. ( 12582162 )
2003
18
Discordant clinical manifestations in monozygotic twins with the identical mutation in the TSC2 gene. ( 12752578 )
2003
19
A calmodulin binding site in the tuberous sclerosis 2 gene product is essential for regulation of transcription events and is altered by mutations linked to tuberous sclerosis and lymphangioleiomyomatosis. ( 11811958 )
2002
20
Aberrant splicing in several human tumors in the tumor suppressor genes neurofibromatosis type 1, neurofibromatosis type 2, and tuberous sclerosis 2. ( 11888927 )
2002
21
Association between a high-expressing interferon-gamma allele and a lower frequency of kidney angiomyolipomas in TSC2 patients. ( 12192641 )
2002
22
The tuberous sclerosis 2 gene product can localize to nuclei in a phosphorylation-dependent manner. ( 11703097 )
2001
23
Transformation of kidney epithelial cells by a quinol thioether via inactivation of the tuberous sclerosis-2 tumor suppressor gene. ( 11398196 )
2001
24
A novel missense mutation in the GTPase activating protein homology region of TSC2 in two large families with tuberous sclerosis complex. ( 11403047 )
2001
25
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. ( 10823953 )
2000
26
Genetic variants of the tuberous sclerosis 2 tumour suppressor gene in mouse t haplotypes. ( 10584558 )
1999
27
Novel TSC2 mutation in a patient with pulmonary tuberous sclerosis: lack of loss of heterozygosity in a lung cyst. ( 10069705 )
1999
28
Malignant pancreatic tumour within the spectrum of tuberous sclerosis complex in childhood. ( 10206124 )
1999
29
Complete inactivation of the TSC2 gene leads to formation of hamartomas. ( 10577937 )
1999
30
Novel intragenic polymorphisms in the tuberous sclerosis 2 (TSC2) gene. Mutations in brief no. 184. Online. ( 10660335 )
1998
31
Mutation and polymorphism analysis in the tuberous sclerosis 2 (TSC2) gene. ( 10732801 )
1998
32
Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development. ( 9861021 )
1998
33
Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis. ( 9361032 )
1997
34
The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis. ( 9045618 )
1997
35
An EcoRV polymorphism in exon 40 of the tuberous sclerosis 2 (TSC2) gene. ( 9076719 )
1997
36
A novel splice site associated polymorphism in the tuberous sclerosis 2 (TSC2) gene may predispose to the development of sporadic gangliogliomas. ( 9210877 )
1997
37
Identification of a leader exon and a core promoter for the rat tuberous sclerosis 2 (Tsc2) gene and structural comparison with the human homolog. ( 9250859 )
1997
38
The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis. ( 9302281 )
1997
39
Suppression of tumorigenicity by the wild-type tuberous sclerosis 2 (Tsc2) gene and its C-terminal region. ( 8799170 )
1996
40
Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. ( 8845853 )
1996
41
Localization of tuberous sclerosis 2 mRNA and its protein product tuberin in normal human brain and in cerebral lesions of patients with tuberous sclerosis. ( 8944308 )
1996
42
Expression of the tuberous sclerosis 2 gene product, tuberin, in adult and developing nervous system tissues. ( 9173918 )
1996
43
Comparative analysis and genomic structure of the tuberous sclerosis 2 (TSC2) gene in human and pufferfish. ( 8789450 )
1996
44
Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. ( 8825048 )
1996
45
Novel mutations detected in the TSC2 gene from both sporadic and familial TSC patients. ( 8824881 )
1996
46
Allelic loss at the tuberous sclerosis 2 locus in spontaneous tumors in the Eker rat. ( 7546222 )
1995
47
Alternative splicing of the tuberous sclerosis 2 (TSC2) gene in human and mouse tissues. ( 7558029 )
1995
48
The mouse homologue of the human tuberous sclerosis 2 (TSC2) gene maps to chromosome 17, but does not fall within the tw18 or th20 deletions. ( 7601476 )
1995
49
Identification of tuberin, the tuberous sclerosis-2 product. Tuberin possesses specific Rap1GAP activity. ( 7608212 )
1995
50
Somatic mosaicism and clinical variation in tuberous sclerosis complex. ( 7823706 )
1995
Sources

Variations for Tuberous Sclerosis 2

About this section

UniProtKB/Swiss-Prot genetic disease variations for Tuberous Sclerosis 2:

76 (show top 50) (show all 51)
# Symbol AA change Variation ID SNP ID
1 TSC2 p.Leu292Pro VAR_005646 rs45517138
2 TSC2 p.Tyr407Asp VAR_005647 rs45517156
3 TSC2 p.Met449Ile VAR_005648 rs45443091
4 TSC2 p.Arg611Gln VAR_005650 rs28934872
5 TSC2 p.Arg611Trp VAR_005651 rs45469298
6 TSC2 p.Leu826Met VAR_005652 rs45517238
7 TSC2 p.Arg905Gln VAR_005653 rs45517259
8 TSC2 p.Arg905Trp VAR_005654 rs45517258
9 TSC2 p.Asp1084Glu VAR_005655 rs45517286
10 TSC2 p.Arg1200Trp VAR_005656 rs45438205
11 TSC2 p.Pro1227Leu VAR_005657
12 TSC2 p.Arg1240Trp VAR_005658
13 TSC2 p.Asp1295Val VAR_005659
14 TSC2 p.Tyr1549Cys VAR_005661 rs45517355
15 TSC2 p.Asn1643Ile VAR_005663 rs45517380
16 TSC2 p.Tyr1650Cys VAR_005664 rs45501091
17 TSC2 p.Asp1690Tyr VAR_005665 rs137854882
18 TSC2 p.Ala1712Glu VAR_005666
19 TSC2 p.Leu1750Phe VAR_005667 rs45459299
20 TSC2 p.Cys227Tyr VAR_008020 rs45517122
21 TSC2 p.Asn331Lys VAR_008021 rs45517153
22 TSC2 p.Asn486Ile VAR_008022 rs45486599
23 TSC2 p.Pro816Leu VAR_008026 rs45517236
24 TSC2 p.Val1144Met VAR_008027 rs45517294
25 TSC2 p.Pro1315Ser VAR_008028 rs397514916
26 TSC2 p.Pro1709Leu VAR_008030 rs45517393
27 TSC2 p.Arg1743Gln VAR_008031 rs45507199
28 TSC2 p.His1773Pro VAR_008032 rs45517418
29 TSC2 p.Glu1783Gln VAR_008033 rs777166275
30 TSC2 p.Lys258Asn VAR_009417 rs137854875
31 TSC2 p.Arg261Pro VAR_009418 rs45502703
32 TSC2 p.Gly294Glu VAR_009422 rs45487497
33 TSC2 p.Leu361Pro VAR_009426 rs45517147
34 TSC2 p.Asn525Ser VAR_009432 rs45457694
35 TSC2 p.Lys599Met VAR_009435 rs45517202
36 TSC2 p.Ala614Asp VAR_009436 rs45454398
37 TSC2 p.Cys696Tyr VAR_009439 rs45486196
38 TSC2 p.Leu717Arg VAR_009440 rs45517214
39 TSC2 p.Met895Val VAR_009442 rs45470695
40 TSC2 p.Pro1497Arg VAR_009445 rs45497997
41 TSC2 p.Ser1498Asn VAR_009446 rs137854879
42 TSC2 p.His1620Tyr VAR_009448 rs45446901
43 TSC2 p.Asn1643Lys VAR_009449 rs45517381
44 TSC2 p.Asn1651Ser VAR_009450 rs45517382
45 TSC2 p.Pro1675Leu VAR_009451 rs45483392
46 TSC2 p.Asn1681Lys VAR_009452 rs45476793
47 TSC2 p.Ser1704Thr VAR_009453 rs45474691
48 TSC2 p.Arg1743Pro VAR_009454 rs45507199
49 TSC2 p.Leu1744Pro VAR_009455 rs45517413
50 TSC2 p.Ser1653Phe VAR_018603 rs45517383

ClinVar genetic disease variations for Tuberous Sclerosis 2:

6 (show top 50) (show all 4232)
# Gene Variation Type Significance SNP ID Assembly Location
1 TSC2 TSC2, 1-BP DEL, 5110A deletion Pathogenic
2 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh37 Chromosome 16, 2135303: 2135303
3 TSC2 NM_000548.4(TSC2): c.4642delC (p.Leu1548Cysfs) deletion Pathogenic rs137854083 GRCh38 Chromosome 16, 2085302: 2085302
4 TSC2 NM_000548.3(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh37 Chromosome 16, 2137898: 2137898
5 TSC2 NM_000548.3(TSC2): c.5024C> T (p.Pro1675Leu) single nucleotide variant Pathogenic rs45483392 GRCh38 Chromosome 16, 2087897: 2087897
6 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh37 Chromosome 16, 2098650: 2098650
7 TSC2 NM_000548.4(TSC2): c.34A> T (p.Lys12Ter) single nucleotide variant Pathogenic rs45512692 GRCh38 Chromosome 16, 2048649: 2048649
8 TSC2 NM_000548.4(TSC2): c.2056_2059dup (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh37 Chromosome 16, 2121894: 2121897
9 TSC2 NM_000548.4(TSC2): c.2056_2059dup (p.Ser687Leufs) duplication Pathogenic rs137854337 GRCh38 Chromosome 16, 2071893: 2071896
10 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh37 Chromosome 16, 2114342: 2114342
11 TSC2 NM_000548.4(TSC2): c.1513C> T (p.Arg505Ter) single nucleotide variant Pathogenic rs45517179 GRCh38 Chromosome 16, 2064341: 2064341
12 TSC2 NM_000548.3(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh37 Chromosome 16, 2120572: 2120572
13 TSC2 NM_000548.3(TSC2): c.1832G> A (p.Arg611Gln) single nucleotide variant Pathogenic rs28934872 GRCh38 Chromosome 16, 2070571: 2070571
14 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh37 Chromosome 16, 2122294: 2122294
15 TSC2 NM_000548.4(TSC2): c.2150T> G (p.Leu717Arg) single nucleotide variant Pathogenic rs45517214 GRCh38 Chromosome 16, 2072293: 2072293
16 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh37 Chromosome 16, 2113043: 2113043
17 TSC2 NM_000548.4(TSC2): c.1432C> T (p.Gln478Ter) single nucleotide variant Pathogenic rs121964862 GRCh38 Chromosome 16, 2063042: 2063042
18 TSC2 NM_000548.3(TSC2): c.4508A> C (p.Gln1503Pro) single nucleotide variant Pathogenic/Likely pathogenic rs45516293 GRCh37 Chromosome 16, 2134966: 2134966
19 TSC2 NM_000548.3(TSC2): c.4508A> C (p.Gln1503Pro) single nucleotide variant Pathogenic/Likely pathogenic rs45516293 GRCh38 Chromosome 16, 2084965: 2084965
20 TSC2 NM_000548.4(TSC2): c.5238_5255del (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh37 Chromosome 16, 2138305: 2138322
21 TSC2 NM_000548.4(TSC2): c.5238_5255del (p.His1746_Arg1751del) deletion Pathogenic rs137854218 GRCh38 Chromosome 16, 2088304: 2088321
22 TSC2 NM_000548.3(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh37 Chromosome 16, 2126143: 2126143
23 TSC2 NM_000548.3(TSC2): c.2714G> A (p.Arg905Gln) single nucleotide variant Pathogenic rs45517259 GRCh38 Chromosome 16, 2076142: 2076142
24 TSC2 NM_000548.3(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
25 TSC2 NM_000548.3(TSC2): c.2713C> T (p.Arg905Trp) single nucleotide variant Pathogenic rs45517258 GRCh38 Chromosome 16, 2076141: 2076141
26 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh37 Chromosome 16, 2126142: 2126142
27 TSC2 NM_000548.4(TSC2): c.2713C> G (p.Arg905Gly) single nucleotide variant Pathogenic rs45517258 GRCh38 Chromosome 16, 2076141: 2076141
28 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5del deletion Pathogenic rs137854250 GRCh37 Chromosome 16, 2122986: 2122989
29 TSC2 NM_000548.4(TSC2): c.2355+2_2355+5del deletion Pathogenic rs137854250 GRCh38 Chromosome 16, 2072985: 2072988
30 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh37 Chromosome 16, 2112562: 2112562
31 TSC2 NM_000548.4(TSC2): c.1322G> A (p.Trp441Ter) single nucleotide variant Pathogenic rs45515894 GRCh38 Chromosome 16, 2062561: 2062561
32 IFNG NM_000619.2(IFNG): c.115-484_115-457CA[12] NT expansion risk factor rs34079299 GRCh37 Chromosome 12, 68552496: 68552497
33 IFNG NM_000619.2(IFNG): c.115-484_115-457CA[12] NT expansion risk factor rs34079299 GRCh38 Chromosome 12, 68158716: 68158717
34 TSC2 NM_000548.4(TSC2): c.1070C> T (p.Ala357Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150195368 GRCh37 Chromosome 16, 2110765: 2110765
35 TSC2 NM_000548.4(TSC2): c.1070C> T (p.Ala357Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150195368 GRCh38 Chromosome 16, 2060764: 2060764
36 TSC2 NM_000548.3(TSC2): c.1100G> A (p.Arg367Gln) single nucleotide variant Benign/Likely benign rs1800725 GRCh37 Chromosome 16, 2110795: 2110795
37 TSC2 NM_000548.3(TSC2): c.1100G> A (p.Arg367Gln) single nucleotide variant Benign/Likely benign rs1800725 GRCh38 Chromosome 16, 2060794: 2060794
38 TSC2 NM_000548.3(TSC2): c.1318G> A (p.Gly440Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs45484298 GRCh37 Chromosome 16, 2112558: 2112558
39 TSC2 NM_000548.3(TSC2): c.1318G> A (p.Gly440Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs45484298 GRCh38 Chromosome 16, 2062557: 2062557
40 TSC2 NM_000548.4(TSC2): c.1340C> T (p.Ala447Val) single nucleotide variant Conflicting interpretations of pathogenicity rs45486591 GRCh37 Chromosome 16, 2112580: 2112580
41 TSC2 NM_000548.4(TSC2): c.1340C> T (p.Ala447Val) single nucleotide variant Conflicting interpretations of pathogenicity rs45486591 GRCh38 Chromosome 16, 2062579: 2062579
42 TSC2 NM_000548.4(TSC2): c.1458C> G (p.Asn486Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200532154 GRCh37 Chromosome 16, 2114287: 2114287
43 TSC2 NM_000548.4(TSC2): c.1458C> G (p.Asn486Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200532154 GRCh38 Chromosome 16, 2064286: 2064286
44 TSC2 NM_000548.4(TSC2): c.1747G> A (p.Ala583Thr) single nucleotide variant Benign/Likely benign rs1800729 GRCh37 Chromosome 16, 2120487: 2120487
45 TSC2 NM_000548.4(TSC2): c.1747G> A (p.Ala583Thr) single nucleotide variant Benign/Likely benign rs1800729 GRCh38 Chromosome 16, 2070486: 2070486
46 TSC2 NM_000548.4(TSC2): c.1819G> A (p.Ala607Thr) single nucleotide variant Benign/Likely benign rs45517203 GRCh37 Chromosome 16, 2120559: 2120559
47 TSC2 NM_000548.4(TSC2): c.1819G> A (p.Ala607Thr) single nucleotide variant Benign/Likely benign rs45517203 GRCh38 Chromosome 16, 2070558: 2070558
48 TSC2 NM_000548.4(TSC2): c.1939G> A (p.Asp647Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs45509392 GRCh37 Chromosome 16, 2121610: 2121610
49 TSC2 NM_000548.4(TSC2): c.1939G> A (p.Asp647Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs45509392 GRCh38 Chromosome 16, 2071609: 2071609
50 TSC2 NM_000548.4(TSC2): c.2476C> A (p.Leu826Met) single nucleotide variant Conflicting interpretations of pathogenicity rs45517238 GRCh37 Chromosome 16, 2124321: 2124321
Sources

Expression for Tuberous Sclerosis 2

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Search GEO for disease gene expression data for Tuberous Sclerosis 2.
Sources

Pathways for Tuberous Sclerosis 2

About this section

Pathways related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

(show all 50)
# Super pathways Score Top Affiliating Genes
1
Akt Signaling 65
Show member pathways
 13.34 IGF1 IRS1 MAPKAPK2 MTOR TSC1 TSC2
2
p70S6K Signaling 65
Show member pathways
 12.99 IGF1 IRS1 MTOR TSC1 TSC2 YWHAB
3
PI3K-Akt signaling pathway 38
Show member pathways
 12.92 IGF1 IRS1 MTOR TSC1 TSC2 YWHAB
4
Human cytomegalovirus infection 38
Show member pathways
 12.91 CALM1 MAPKAPK2 MTOR TSC1 TSC2 YWHAB
5
Regulation of lipid metabolism Insulin signaling-generic cascades 23
Show member pathways
 12.83 CALM1 IGF1 IRS1 MTOR TSC1 TSC2
6
Pathways in cancer 38
12.78 CALM1 DAPK1 IFNG IGF1 MTOR
7
NFAT and Cardiac Hypertrophy 65
Show member pathways
 12.78 CALM1 IGF1 IRS1 MAPKAPK2 MTOR YWHAB
8
TNFR1 Pathway 65
Show member pathways
 12.78 CALM1 DAPK1 IGF1 IRS1 MTOR TSC2
9
Downstream signaling events of B Cell Receptor (BCR) 67
Show member pathways
 12.64 CALM1 IRS1 MTOR TSC2
10
Development HGF signaling pathway 23
Show member pathways
 12.63 CALM1 IRS1 MAPKAPK2 MTOR
11
Development Endothelin-1/EDNRA signaling 23
Show member pathways
 12.59 CALM1 IGF1 MTOR TSC2
12
Glioma 38
Show member pathways
 12.57 CALM1 IGF1 IRS1 MTOR TSC1 TSC2
13
Development Dopamine D2 receptor transactivation of EGFR 23
Show member pathways
 12.5 CALM1 IGF1 IRS1 YWHAB
14
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.45 IRS1 MTOR TSC1 TSC2
15
mTOR signaling pathway (KEGG) 38
Show member pathways
 12.44 IGF1 IRS1 MTOR TSC1 TSC2
16
AMP-activated Protein Kinase (AMPK) Signaling 1
Show member pathways
 12.35 IGF1 IRS1 MTOR TSC1 TSC2
17
mTOR signalling 67
Show member pathways
 12.32 IRS1 MTOR TSC1 TSC2 YWHAB
18
AMPK Enzyme Complex Pathway 65
Show member pathways
 12.16 IRS1 MTOR TSC1 TSC2
19
MAPK Signaling: Mitogen Stimulation Pathway 66
Show member pathways
 12.14 MTOR TSC1 TSC2 YWHAB
20
Development IGF-1 receptor signaling 23
Show member pathways
 12.12 IGF1 IRS1 MTOR TSC1 TSC2 YWHAB
21
Integrated Breast Cancer Pathway 1
12.11 IRS1 MTOR TSC1 TSC2
22
AKT Signaling Pathway 68
12.1 MTOR TSC1 TSC2 YWHAB
23
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 12.08 CALM1 IGF1 MTOR
24
Transcription Androgen Receptor nuclear signaling 23
Show member pathways
 12.07 IGF1 IRS1 MTOR TSC2
25
Autophagy Pathway 66
Show member pathways
 12.05 MTOR TSC1 TSC2
26
Brain-Derived Neurotrophic Factor (BDNF) signaling pathway 1
12.03 IRS1 MTOR TSC2
27
Immune response IFN gamma signaling pathway 23
Show member pathways
 12.03 CALM1 DAPK1 IFNG IGF1 MTOR
28
Cellular senescence (KEGG) 38
12.03 CALM1 MAPKAPK2 MTOR TSC1 TSC2
29
IL-2 Signaling Pathway 1
Show member pathways
 11.99 IFNG IRS1 MAPKAPK2
30
Longevity regulating pathway 38
Show member pathways
 11.98 IGF1 IRS1 MTOR TSC1 TSC2
31
Translation Translation regulation by Alpha-1 adrenergic receptors 23
Show member pathways
 11.94 CALM1 MTOR TSC2
32
Type I Interferon Signaling Pathways 66
Show member pathways
 11.94 IFNG IRS1 MAPKAPK2 MTOR TSC1 TSC2
33
Insulin resistance 38
Show member pathways
 11.9 IRS1 MTOR NR1H2
34
Glioblastoma Multiforme 65
11.9 IGF1 MTOR TSC1 TSC2
35
Senescence and Autophagy in Cancer 1
11.88 IFNG IGF1 MTOR
36
ErbB1 downstream signaling 1
11.86 CALM1 MTOR YWHAB
37
HIF-1 signaling pathway 38
11.85 IFNG IGF1 MTOR
38
Autophagy - animal 38
11.83 DAPK1 IRS1 MTOR TSC1 TSC2
39
Constitutive Signaling by AKT1 E17K in Cancer 67
Show member pathways
 11.77 MTOR TSC2 YWHAB
40
TP53 Regulates Metabolic Genes 67
11.71 MTOR TSC1 TSC2 YWHAB
41
Immune response Function of MEF2 in T lymphocytes 23
Show member pathways
 11.58 CALM1 IGF1 IRS1 MTOR TSC2 YWHAB
42
Wnt Signaling Pathway Netpath 1
11.55 MTOR TSC1 TSC2
43
G-protein signaling_Cross-talk between Ras-family GTPases 23
11.33 CALM1 IGF1 IRS1 MAPKAPK2 MTOR
44
BDNF-TrkB Signaling 1
11.31 MTOR TSC1 TSC2
45
LKB1 signaling events 1
11.29 MTOR TSC1 TSC2 YWHAB
46
Factors and pathways affecting insulin-like growth factor (IGF1)-Akt signaling 1
11.26 IGF1 IRS1 MTOR
47
EGFR Transactivation by Gastrin 67
Show member pathways
 11.12 IGF1 MTOR
48
p38 signaling mediated by MAPKAP kinases 1
10.99 MAPKAPK2 TSC2 YWHAB
49
4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression 1
10.94 MTOR TSC1
50
mTOR signaling pathway (Pathway Interaction Database) 1
10.81 IRS1 MTOR TSC1 TSC2 YWHAB
Sources

GO Terms for Tuberous Sclerosis 2

About this section

Cellular components related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 TSC1-TSC2 complex GO:0033596 8.62 TSC1 TSC2

Biological processes related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.84 IFNG IGF1 MTOR NR1H2
2 peptidyl-serine phosphorylation GO:0018105 9.7 MAPKAPK2 MTOR PKD1
3 cell cycle arrest GO:0007050 9.69 IFNG MTOR PKD1
4 mRNA stabilization GO:0048255 9.49 MAPKAPK2 MTOR
5 positive regulation of glycogen biosynthetic process GO:0045725 9.48 IGF1 IRS1
6 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.46 CALM1 MTOR
7 MAPK cascade GO:0000165 9.46 CALM1 IRS1 MAPKAPK2 YWHAB
8 negative regulation of macroautophagy GO:0016242 9.43 MTOR TSC1
9 response to insulin GO:0032868 9.43 IRS1 MTOR TSC1
10 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.4 IGF1 MTOR
11 anoikis GO:0043276 9.37 MTOR TSC2
12 negative regulation of cell size GO:0045792 9.32 MTOR TSC1
13 negative regulation of insulin receptor signaling pathway GO:0046627 9.13 IRS1 TSC1 TSC2
14 insulin-like growth factor receptor signaling pathway GO:0048009 8.8 IGF1 IRS1 TSC2

Molecular functions related to Tuberous Sclerosis 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.5 CALM1 DAPK1 IFNG IGF1 IRS1 KCNA2
2 calmodulin-dependent protein kinase activity GO:0004683 9.37 DAPK1 MAPKAPK2
3 insulin receptor binding GO:0005158 9.32 IGF1 IRS1
4 phosphatidylinositol 3-kinase binding GO:0043548 9.26 CALM1 IRS1
5 protein domain specific binding GO:0019904 9.26 CALM1 MTOR PKD1 YWHAB
6 insulin-like growth factor receptor binding GO:0005159 9.16 IGF1 IRS1
Sources

Sources for Tuberous Sclerosis 2

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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