MCID: RTN162
MIFTS: 50

Retinitis Pigmentosa 2

Categories: Genetic diseases, Eye diseases, Rare diseases

Aliases & Classifications for Retinitis Pigmentosa 2

MalaCards integrated aliases for Retinitis Pigmentosa 2:

Name: Retinitis Pigmentosa 2 57 12 75 29 13 6 15 73
Rp2 57 12 75
X-Linked Retinitis Pigmentosa 2 75
Retinitis Pigmentosa, Type 2 40
Xlrp-2 75
Xlrp2 75

Characteristics:

OMIM:

57
Inheritance:
x-linked

Miscellaneous:
some heterozygous females show a blue-yellow color defect


HPO:

32
retinitis pigmentosa 2:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 312600
Disease Ontology 12 DOID:0110415
ICD10 33 H35.5
MedGen 42 C2681923
MeSH 44 D012174
UMLS 73 C2681923

Summaries for Retinitis Pigmentosa 2

OMIM : 57 Retinitis pigmentosa is characterized by constriction of the visual fields, night blindness, and fundus changes, including 'bone corpuscle' lumps of pigment. RP unassociated with other abnormalities is inherited most frequently (84%) as an autosomal recessive, next as an autosomal dominant (10%), and least frequently (6%) as an X-linked recessive in the white U.S. population (Boughman et al., 1980). For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa, see 268000. (312600)

MalaCards based summary : Retinitis Pigmentosa 2, also known as rp2, is related to retinitis and retinitis pigmentosa. An important gene associated with Retinitis Pigmentosa 2 is RP2 (RP2, ARL3 GTPase Activating Protein), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Cargo trafficking to the periciliary membrane. The drugs Carboplatin and Gemcitabine have been mentioned in the context of this disorder. Affiliated tissues include lung, b cells and myeloid, and related phenotypes are rod-cone dystrophy and cataract

Disease Ontology : 12 A retinitis pigmentosa that has material basis in mutation in the RP2 gene on chromosome Xp11.3.

UniProtKB/Swiss-Prot : 75 Retinitis pigmentosa 2: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

Related Diseases for Retinitis Pigmentosa 2

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 1 Retinitis Pigmentosa 9
Retinitis Pigmentosa 10 Retinitis Pigmentosa, Late-Adult Onset
Retinitis Pigmentosa 3 Retinitis Pigmentosa 24
Retinitis Pigmentosa 23 Retinitis Pigmentosa 34
Retinitis Pigmentosa 2 Retinitis Pigmentosa 6
Retinitis Pigmentosa 13 Retinitis Pigmentosa 12
Retinitis Pigmentosa 14 Retinitis Pigmentosa 11
Retinitis Pigmentosa 17 Retinitis Pigmentosa 18
Retinitis Pigmentosa 19 Retinitis Pigmentosa 22
Retinitis Pigmentosa 25 Retinitis Pigmentosa 28
Retinitis Pigmentosa 30 Retinitis Pigmentosa 7
Retinitis Pigmentosa 26 Retinitis Pigmentosa 32
Retinitis Pigmentosa 31 Retinitis Pigmentosa 35
Retinitis Pigmentosa 33 Retinitis Pigmentosa 36
Retinitis Pigmentosa 37 Retinitis Pigmentosa 41
Retinitis Pigmentosa 29 Retinitis Pigmentosa 46
Retinitis Pigmentosa 42 Retinitis Pigmentosa 50
Retinitis Pigmentosa 54 Retinitis Pigmentosa 51
Retinitis Pigmentosa 55 Retinitis Pigmentosa 56
Retinitis Pigmentosa 57 Retinitis Pigmentosa 58
Retinitis Pigmentosa 4 Retinitis Pigmentosa 27
Retinitis Pigmentosa 49 Retinitis Pigmentosa 47
Retinitis Pigmentosa 45 Retinitis Pigmentosa 44
Retinitis Pigmentosa 20 Retinitis Pigmentosa 40
Retinitis Pigmentosa 39 Retinitis Pigmentosa 43
Retinitis Pigmentosa 48 Retinitis Pigmentosa 59
Retinitis Pigmentosa 38 Retinitis Pigmentosa 60
Retinitis Pigmentosa 61 Retinitis Pigmentosa 62
Retinitis Pigmentosa 63 Retinitis Pigmentosa 66
Retinitis Pigmentosa 67 Retinitis Pigmentosa 68
Retinitis Pigmentosa 69 Retinitis Pigmentosa 70
Retinitis Pigmentosa 71 Retinitis Pigmentosa 72
Retinitis Pigmentosa 73 Retinitis Pigmentosa 74
Retinitis Pigmentosa 75 Retinitis Pigmentosa 76
Retinitis Pigmentosa 77 Retinitis Pigmentosa 78
Retinitis Pigmentosa 79 Retinitis Pigmentosa 80
Retinitis Pigmentosa 81 Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinitis 30.3 RP2 RPGR
2 retinitis pigmentosa 27.1 ARL3 RP2 RPGR TBCE TNPO1
3 retinitis pigmentosa 2, x-linked 12.0
4 cone-rod dystrophy 2 11.0
5 leber congenital amaurosis 4 10.4
6 retinal degeneration 9.8
7 fundus dystrophy 9.7 RP2 RPGR
8 joubert syndrome 1 9.4 ARL3 RPGR

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 2:



Diseases related to Retinitis Pigmentosa 2

Symptoms & Phenotypes for Retinitis Pigmentosa 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
cataract
pigmentary retinopathy
night blindness
retinitis pigmentosa
constricted visual fields
more

Clinical features from OMIM:

312600

Human phenotypes related to Retinitis Pigmentosa 2:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 rod-cone dystrophy 32 HP:0000510
2 cataract 32 HP:0000518
3 myopia 32 HP:0000545
4 pigmentary retinopathy 32 HP:0000580
5 nyctalopia 32 HP:0000662
6 constriction of peripheral visual field 32 HP:0001133
7 chorioretinal degeneration 32 HP:0200065

Drugs & Therapeutics for Retinitis Pigmentosa 2

Drugs for Retinitis Pigmentosa 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 407)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carboplatin Approved Phase 2, Phase 3,Phase 1 41575-94-4 10339178 498142 38904
2
Gemcitabine Approved Phase 2, Phase 3,Phase 1 95058-81-4 60750
3
Azacitidine Approved, Investigational Phase 3,Phase 1,Phase 2 320-67-2 9444
4
Decitabine Approved, Investigational Phase 3,Phase 1,Phase 2 2353-33-5 451668
5
Cisplatin Approved Phase 2, Phase 3,Phase 1,Not Applicable 15663-27-1 84093 441203 2767
6
Pemetrexed Approved, Investigational Phase 2, Phase 3,Phase 1 150399-23-8, 137281-23-3 446556 60843
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 1 59-30-3 6037
8
leucovorin Approved, Nutraceutical Phase 2, Phase 3,Phase 1 58-05-9 143 6006
9 Antimetabolites Phase 3,Phase 2,Phase 1
10 Antimetabolites, Antineoplastic Phase 3,Phase 2,Phase 1
11 Antibodies Phase 2, Phase 3,Phase 1
12 Antibodies, Monoclonal Phase 2, Phase 3,Phase 1
13 Anti-Infective Agents Phase 2, Phase 3,Phase 1,Not Applicable
14 Antiviral Agents Phase 2, Phase 3,Phase 1
15 Immunoglobulins Phase 2, Phase 3,Phase 1
16 Immunosuppressive Agents Phase 2, Phase 3,Phase 1,Not Applicable
17 Folic Acid Antagonists Phase 2, Phase 3,Phase 1
18 Nucleic Acid Synthesis Inhibitors Phase 2, Phase 3,Phase 1
19 Vitamin B Complex Phase 2, Phase 3,Phase 1
20 Folate Nutraceutical Phase 2, Phase 3,Phase 1
21 Vitamin B9 Nutraceutical Phase 2, Phase 3,Phase 1
22
Progesterone Approved, Vet_approved Phase 1, Phase 2,Phase 2 57-83-0 5994
23
Cytarabine Approved, Investigational Phase 1, Phase 2,Phase 2 147-94-4 6253
24
Tranylcypromine Approved, Investigational Phase 1, Phase 2 155-09-9 441233
25
Artemether Approved Phase 1, Phase 2 71963-77-4 119380 68911
26
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2,Not Applicable 22916-47-8 4189
27
Ribavirin Approved Phase 1, Phase 2,Phase 2 36791-04-5 37542
28
Capecitabine Approved, Investigational Phase 1, Phase 2,Phase 2 154361-50-9 60953
29
Gefitinib Approved, Investigational Phase 1, Phase 2,Phase 2 184475-35-2 123631
30
Lenvatinib Approved, Investigational Phase 1, Phase 2,Phase 2 417716-92-8
31
Paclitaxel Approved, Vet_approved Phase 1, Phase 2,Phase 2 33069-62-4 36314
32
Palbociclib Approved, Investigational Phase 2,Phase 1 571190-30-2 11431660 5005498 5330286
33
Docetaxel Approved, Investigational Phase 1, Phase 2,Phase 2 114977-28-5 148124
34
Sunitinib Approved, Investigational Phase 1, Phase 2,Phase 2 341031-54-7, 557795-19-4 5329102
35
Dabrafenib Approved, Investigational Phase 1, Phase 2,Phase 2 1195765-45-7 44462760 44516822
36
Bortezomib Approved, Investigational Phase 1, Phase 2,Phase 2 179324-69-7 387447 93860
37
Dasatinib Approved, Investigational Phase 1, Phase 2,Phase 2 302962-49-8 3062316
38
Everolimus Approved Phase 1, Phase 2,Phase 2,Not Applicable 159351-69-6 6442177
39
Sirolimus Approved, Investigational Phase 1, Phase 2,Phase 2,Not Applicable 53123-88-9 5284616 6436030 46835353
40 Ixazomib Approved, Investigational Phase 1, Phase 2,Phase 2 1072833-77-2
41
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
42
Prednisone Approved, Vet_approved Phase 1, Phase 2,Phase 2 53-03-2 5865
43
Dexamethasone Approved, Investigational, Vet_approved Phase 1, Phase 2,Phase 2 50-02-2 5743
44
Lenalidomide Approved Phase 1, Phase 2,Phase 2 191732-72-6 216326
45
Lomustine Approved, Investigational Phase 1, Phase 2,Phase 2 13010-47-4 3950
46
Clofarabine Approved, Investigational Phase 1, Phase 2,Phase 2 123318-82-1 119182
47
Cyclophosphamide Approved, Investigational Phase 1, Phase 2,Phase 2 50-18-0, 6055-19-2 2907
48
Etoposide Approved Phase 1, Phase 2,Phase 2 33419-42-0 36462
49
Crizotinib Approved Phase 2,Phase 1 877399-52-5 11626560 10366136 10366137 10366138 10366139 10366140 10366141
50
Cetuximab Approved Phase 1, Phase 2,Phase 2,Not Applicable 205923-56-4 56842117 2333

Interventional clinical trials:

(show top 50) (show all 961)
# Name Status NCT ID Phase Drugs
1 An Efficacy and Safety Study of Decitabine (DACOGEN) Plus Talacotuzumab (JNJ-56022473; Anti CD123) Versus Decitabine (DACOGEN) Alone in Participants With Acute Myeloid Leukemia (AML) Ineligible for Intensive Chemotherapy Completed NCT02472145 Phase 3 Decitabine 20 mg/m^2;Talacotuzumab 9 mg/kg
2 A Study to Evaluate Efficacy and Safety of Multiple Targeted Therapies as Treatments for Participants With Non-Small Cell Lung Cancer (NSCLC) Recruiting NCT03178552 Phase 2, Phase 3 Alectinib;Atezolizumab;Pemetrexed;Cisplatin;Carboplatin;Gemcitabine
3 Phase 1-2 Study of Onapristone in Patients With Progesterone Receptor Expressing Cancers Unknown status NCT02052128 Phase 1, Phase 2 onapristone
4 Study of Sensitization of Non-M3 AML Blasts to ATRA by Epigenetic Treatment With Tranylcypromine (TCP) Unknown status NCT02717884 Phase 1, Phase 2 tranylcypromine;all-trans retinoic acid;cytarabine
5 Study to Evaluate Safety, Pharmacokinetics, and Efficacy of Rociletinib (CO-1686) in Previously Treated Mutant Epidermal Growth Factor Receptor (EGFR) in Non-Small Cell Lung Cancer (NSCLC) Patients Unknown status NCT01526928 Phase 1, Phase 2 Rociletinib
6 A Phase 1/2a Study of LON002 in Subjects With Advanced Solid Tumours Unknown status NCT02263950 Phase 1, Phase 2 Artemether
7 Phase I/II Study of Ribavirin Given as Monotherapy in Solid Tumour Cancer Patients Unknown status NCT01309490 Phase 1, Phase 2 Ribavirin
8 Study of the Bruton's Tyrosine Kinase Inhibitor in Subjects With Chronic Graft Versus Host Disease Unknown status NCT02195869 Phase 1, Phase 2 Ibrutinib
9 Phase I/II Trial of Safety and Anti-tumor Efficacy of AXL1717(Picropodophyllin) in the Treatment of Recurrent Malignant Astrocytomas Unknown status NCT01721577 Phase 1, Phase 2 AXL1717
10 MEK162 in Combination With Capecitabine in Advanced Biliary Tract Cancer Unknown status NCT02773459 Phase 1, Phase 2 MEK162+capecitabine
11 Afatinib Plus Nimotuzumb for NSCLC Unknown status NCT01861223 Phase 1, Phase 2 afatinib (30 or 40mg) + nimotuzumab (100 or 200mg)
12 E7050 in Combination With E7080 in Subjects With Advanced Solid Tumors (Dose Escalation) and in Subjects With Recurrent Glioblastoma or Unresectable Stage III or Stage IV Melanoma After Prior Systemic Therapy (Expansion Cohort and Phase 2) Unknown status NCT01433991 Phase 1, Phase 2 E7050 plus lenvatinib;lenvatinib plus E7050;E7050 plus lenvatinib or lenvatinib alone plus E7050 add-on therapy;E7050 plus lenvatinib;E7050
13 A Phase I/IIa Open-Label, Dose Escalation and Cohort Expansion Trial of Oral TSR-011 in Patients With Advanced Solid Tumors and Lymphomas Unknown status NCT02048488 Phase 1, Phase 2 TSR-011
14 A Phase Ib/II Study of LEE011 in Combination With MEK162 in Patients With NRAS Mutant Melanoma Completed NCT01781572 Phase 1, Phase 2 LEE011 and MEK162;LEE011 and MEK162;LEE011 and MEK162;LEE011 and MEK162
15 Study of Bendamustine Hydrochloride for the Treatment of Pediatric Patients With Relapsed or Refractory Acute Leukemia Completed NCT01088984 Phase 1, Phase 2 Bendamustine
16 BKM120 Combined With Vemurafenib (PLX4032) in BRAFV600E/K Mutant Advanced Melanoma Completed NCT01512251 Phase 1, Phase 2 BKM120 Combined with Vemurafenib (PLX4032)
17 Study of the Safety and Effectiveness of LGH447 and BYL719 in Patients With Relapsed and Refractory Multiple Myeloma Completed NCT02144038 Phase 1, Phase 2 LGH447;BYL719
18 Phase 1b/2 Study of Avelumab With or Without Entinostat in Patients With Advanced Epithelial Ovarian Cancer Completed NCT02915523 Phase 1, Phase 2 entinostat;avelumab;Placebo
19 A Study of KW-2478 in Combination With Bortezomib in Subjects With Relapsed and/or Refractory Multiple Myeloma Completed NCT01063907 Phase 1, Phase 2 KW-2478;Bortezomib
20 Dasatinib Combination Therapy With the Smoothened (SMO) Inhibitor BMS-833923 in Chronic Myeloid Leukemia (CML) Completed NCT01218477 Phase 1, Phase 2 Dasatinib;BMS-833923
21 Use of Ribavirin and Low Dose Ara-C to Treat Acute Myeloid Leukemia Completed NCT01056523 Phase 1, Phase 2 Ribavirin;Cytarabine arabinoside
22 Phase Ib/II Trial of BEZ235 With Paclitaxel in Patients With HER2 Negative, Locally Advanced or Metastatic Breast Cancer Completed NCT01495247 Phase 1, Phase 2 BEZ235 + Paclitaxel
23 Study of Oral Ixazomib in Combination With Melphalan and Prednisone in Participants With Newly Diagnosed Multiple Myeloma Completed NCT01335685 Phase 1, Phase 2 Ixazomib;Melphalan;Prednisone
24 A Phase 1b/2 Study in Asian Subjects With Non-Small Cell Lung Cancer Completed NCT01039948 Phase 1, Phase 2 Gefitinib
25 A Study of Ixazomib Administered in Combination With Lenalidomide and Low-Dose Dexamethasone in Patients With Newly Diagnosed Multiple Myeloma Completed NCT01217957 Phase 1, Phase 2 Ixazomib;Lenalidomide;Dexamethasone
26 An Investigational Drug, Palbociclib (PD-0332991), Is Being Studied In Combination With Velcade And Dexamethasone In Patients With Multiple Myeloma. Patients Must Have Received Prior Treatment For Multiple Myeloma. Completed NCT00555906 Phase 2 Bortezomib;Dexamethasone;PD 0332991
27 Phase Ib/II Study of Buparlisib Plus Carboplatin or Lomustine in Patients With Recurrent Glioblastoma Multiforme Completed NCT01934361 Phase 1, Phase 2 buparlisib;carboplatin;lomustine;placebo
28 A Study of Clofarabine in Combination With Etoposide and Cyclophosphamide in Children With Acute Leukemias. Completed NCT00315705 Phase 1, Phase 2 clofarabine;Etoposide;Cyclophosphamide
29 Study Evaluating Inotuzumab Ozogamicin In Acute Lymphocytic Leukemia Completed NCT01363297 Phase 2 Inotuzumab Ozogamicin
30 A Study Evaluating Intermittent and Continuous OSI-906 and Weekly Paclitaxel in Patients With Recurrent Epithelial Ovarian Cancer (and Other Solid Tumors) Completed NCT00889382 Phase 1, Phase 2 OSI-906;Paclitaxel
31 A Study of CH5424802/RO5424802 in Patients With ALK-Rearranged Non-Small Cell Lung Cancer Completed NCT01871805 Phase 2 RO5424802;RO5424802
32 A Phase I/II Trial of Crolibulin (EPC2407) Plus Cisplatin in Adults With Solid Tumors With a Focus on Anaplastic Thyroid Cancer (ATC) Completed NCT01240590 Phase 1, Phase 2 Crolibulin;Cisplatin
33 GTI-2040 and Docetaxel in Treating Patients With Recurrent, Metastatic, or Unresectable Locally Advanced Non-Small Cell Lung Cancer, Prostate Cancer, or Other Solid Tumors Completed NCT00074022 Phase 1, Phase 2 docetaxel
34 Combination With Gemcitabine in Advanced Pancreatic Cancer Completed NCT01251640 Phase 1, Phase 2 BAY86-9766+Gemcitabine
35 A Phase 1/2 Dose Finding Study of an Experimental New Drug CS7017, an Oral PPARγ Agonist Taken by Mouth Twice Daily in Combination With Paclitaxel Chemotherapy Completed NCT00603941 Phase 1, Phase 2 CS7017;Paclitaxel
36 Study of WNT974 in Combination With LGX818 and Cetuximab in Patients With BRAF-mutant Metastatic Colorectal Cancer (mCRC) and Wnt Pathway Mutations Completed NCT02278133 Phase 1, Phase 2 WNT974;LGX818
37 Combination of Decitabine and Temozolomide in the Treatment of Patients With Metastatic Melanoma Completed NCT00715793 Phase 1, Phase 2 Decitabine;Temozolomide
38 QUILT-3.019: Phase 2 Study of NPC-1C Chimeric Monoclonal Antibody to Treat Pancreatic and Colorectal Cancer Completed NCT01040000 Phase 1, Phase 2 NPC-1C/NEO-102
39 A Phase Ib/2 Clinical Study of Fruquintinib Combined With Paclitaxel in the Treatment of Advanced Gastric Cancer Completed NCT02415023 Phase 1, Phase 2 fruquintinib+paclitaxel
40 A Phase I-II Study of PAXG in Stage III-IV Pancreatic Adenocarcinoma Completed NCT01730222 Phase 1, Phase 2 cisplatin;capecitabine;gemcitabine;nab-paclitaxel
41 Study of Brentuximab Vedotin (SGN-35) in Pediatric Participants With Relapsed or Refractory (r/r) Systemic Anaplastic Large-Cell Lymphoma or Hodgkin Lymphoma Completed NCT01492088 Phase 1, Phase 2 Brentuximab vedotin
42 Alisertib (MLN8237) in Participants With Ovarian, Fallopian Tube or Peritoneal Cancer Preceded by Phase 1 Study of MLN8237 Plus Paclitaxel Treatment of Ovary or Breast Cancer Completed NCT01091428 Phase 2 Alisertib;Paclitaxel
43 Combination Study Of CP-751,871 With Paclitaxel And Carboplatin In Advanced Lung Cancer Completed NCT00147537 Phase 1, Phase 2 CP-751,871;paclitaxel;carboplatin;CP-751,871;paclitaxel;carboplatin;erlotinib
44 Sorafenib (BAY 43-9006) to Treat Children With Solid Tumors or Leukemias Completed NCT01445080 Phase 1, Phase 2 Sorafenib
45 LBH589 and Bevacizumab in Patients With Recurrent High Grade Glioma Completed NCT00859222 Phase 1, Phase 2 LBH589;bevacizumab
46 Study of Oral IXAZOMIB in Combination With Lenalidomide and Dexamethasone in Patients With Newly Diagnosed Multiple Myeloma Completed NCT01383928 Phase 1, Phase 2 IXAZOMIB + Lenalidomide + Dexamethasone
47 Amgen 386 for Recurrent Glioblastoma Completed NCT01290263 Phase 1, Phase 2 Amgen 386;Bevacizumab
48 A Study of RO5424802 in Patients With Non-Small Cell Lung Cancer Who Have ALK Mutation and Failed Crizotinib Treatment Completed NCT01801111 Phase 2 erlotinib [Tarceva];RO5452802
49 Phase 2 Study of Oral IXAZOMIB in Adult Patients With Relapsed and/or Refractory Follicular Lymphoma Completed NCT01939899 Phase 2 IXAZOMIB
50 A Dose Escalation and Cohort Expansion Study of CD122-Biased Cytokine (NKTR-214) in Combination With Anti-PD-1 Antibody (Nivolumab) or in Combination With Nivolumab and Anti-CTLA4 Antibody (Ipilimumab) in Patients With Select Advanced or Metastatic Solid Recruiting NCT02983045 Phase 1, Phase 2 Combination of NKTR-214 + nivolumab;Combination of NKTR-214 + nivolumab + ipilimumab

Search NIH Clinical Center for Retinitis Pigmentosa 2

Genetic Tests for Retinitis Pigmentosa 2

Genetic tests related to Retinitis Pigmentosa 2:

# Genetic test Affiliating Genes
1 Retinitis Pigmentosa 2 29 RP2

Anatomical Context for Retinitis Pigmentosa 2

MalaCards organs/tissues related to Retinitis Pigmentosa 2:

41
Lung, B Cells, Myeloid, Prostate, Brain, Bone, T Cells

Publications for Retinitis Pigmentosa 2

Articles related to Retinitis Pigmentosa 2:

(show all 17)
# Title Authors Year
1
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish. ( 28209709 )
2017
2
Mistrafficking of prenylated proteins causes retinitis pigmentosa 2. ( 25422369 )
2015
3
X-Linked Retinitis Pigmentosa 2 Is a Novel Maternal-Effect Gene Required for Left-Right Asymmetry in Zebrafish. ( 26134862 )
2015
4
Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy. ( 26358772 )
2015
5
Loss of retinitis pigmentosa 2 (RP2) protein affects cone photoreceptor sensory cilium elongation in mice. ( 26383048 )
2015
6
A novel one-base insertion mutation in the retinitis pigmentosa 2 gene in a large X-linked Taiwanese family. ( 24479636 )
2014
7
Ablation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degeneration. ( 23745007 )
2013
8
Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration. ( 21282572 )
2011
9
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants. ( 21738648 )
2011
10
Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2. ( 21285245 )
2011
11
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3. ( 18376416 )
2008
12
Focus on molecules: X-linked Retinitis Pigmentosa 2 protein, RP2. ( 16310188 )
2006
13
Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3. ( 16472755 )
2006
14
Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C. ( 11847227 )
2002
15
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2). ( 10520237 )
1999
16
Positional cloning of the gene for X-linked retinitis pigmentosa 2. ( 9697692 )
1998
17
Genomic organization of the human TIMP-1 gene. Investigation of a causative role in the pathogenesis of X-linked retinitis pigmentosa 2. ( 9286280 )
1997

Variations for Retinitis Pigmentosa 2

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 2:

75
# Symbol AA change Variation ID SNP ID
1 RP2 p.Cys108Gly VAR_008498
2 RP2 p.Arg118His VAR_008499 rs28933687
3 RP2 p.Leu253Arg VAR_008500
4 RP2 p.Cys67Tyr VAR_018069
5 RP2 p.Cys86Tyr VAR_018070
6 RP2 p.Arg118Leu VAR_018072 rs28933687
7 RP2 p.Glu138Gly VAR_018074
8 RP2 p.Leu188Pro VAR_018075
9 RP2 p.Arg118Cys VAR_026058
10 RP2 p.Cys108Tyr VAR_068353

ClinVar genetic disease variations for Retinitis Pigmentosa 2:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 RP2 NM_006915.2(RP2): c.16_18delTCC (p.Ser6del) deletion Pathogenic rs137852284 GRCh37 Chromosome X, 46696551: 46696553
2 RP2 NM_006915.2(RP2): c.16_18delTCC (p.Ser6del) deletion Pathogenic rs137852284 GRCh38 Chromosome X, 46837116: 46837118
3 RP2 NM_006915.2(RP2): c.76C> T (p.Gln26Ter) single nucleotide variant Pathogenic rs104894925 GRCh37 Chromosome X, 46696611: 46696611
4 RP2 NM_006915.2(RP2): c.76C> T (p.Gln26Ter) single nucleotide variant Pathogenic rs104894925 GRCh38 Chromosome X, 46837176: 46837176
5 RP2 NM_006915.2(RP2): c.353G> A (p.Arg118His) single nucleotide variant Pathogenic rs28933687 GRCh37 Chromosome X, 46713161: 46713161
6 RP2 NM_006915.2(RP2): c.353G> A (p.Arg118His) single nucleotide variant Pathogenic rs28933687 GRCh38 Chromosome X, 46853726: 46853726
7 RP2 NM_006915.2(RP2): c.453C> G (p.Tyr151Ter) single nucleotide variant Pathogenic rs104894926 GRCh37 Chromosome X, 46713261: 46713261
8 RP2 NM_006915.2(RP2): c.453C> G (p.Tyr151Ter) single nucleotide variant Pathogenic rs104894926 GRCh38 Chromosome X, 46853826: 46853826
9 RP2 RP2, 1-BP DEL deletion Pathogenic
10 RP2 NM_006915.2(RP2): c.353G> T (p.Arg118Leu) single nucleotide variant Pathogenic rs28933687 GRCh37 Chromosome X, 46713161: 46713161
11 RP2 NM_006915.2(RP2): c.353G> T (p.Arg118Leu) single nucleotide variant Pathogenic rs28933687 GRCh38 Chromosome X, 46853726: 46853726
12 RP2 RP2, 1-BP INS, 303T insertion Pathogenic
13 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh37 Chromosome X, 46713166: 46713166
14 RP2 NM_006915.2(RP2): c.358C> T (p.Arg120Ter) single nucleotide variant Pathogenic rs104894927 GRCh38 Chromosome X, 46853731: 46853731
15 RP2 NM_006915.2(RP2): c.352delC (p.Arg118Valfs) deletion Pathogenic rs797044507 GRCh37 Chromosome X, 46713160: 46713160
16 RP2 NM_006915.2(RP2): c.352delC (p.Arg118Valfs) deletion Pathogenic rs797044507 GRCh38 Chromosome X, 46853725: 46853725
17 RP2 NM_006915.2(RP2): c.593_594delAT (p.Tyr198Cysfs) deletion Pathogenic rs886044897 GRCh37 Chromosome X, 46713401: 46713402
18 RP2 NM_006915.2(RP2): c.593_594delAT (p.Tyr198Cysfs) deletion Pathogenic rs886044897 GRCh38 Chromosome X, 46853966: 46853967

Expression for Retinitis Pigmentosa 2

Search GEO for disease gene expression data for Retinitis Pigmentosa 2.

Pathways for Retinitis Pigmentosa 2

Pathways related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 ARL3 RP2 TNPO1
2
Show member pathways
10.99 ARL3 RP2

GO Terms for Retinitis Pigmentosa 2

Cellular components related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.73 ARL3 PRICKLE3 RP2 RPGR TBCE TNPO1
2 cell projection GO:0042995 9.5 ARL3 RP2 RPGR
3 ciliary basal body GO:0036064 9.16 RP2 RPGR
4 centrosome GO:0005813 9.13 ARL3 PRICKLE3 RPGR
5 cilium GO:0005929 8.92 ARL3 RP2 RPGR TNPO1

Biological processes related to Retinitis Pigmentosa 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.43 ARL3 RPGR
2 protein transport GO:0015031 9.43 ARL3 RP2 TNPO1
3 visual perception GO:0007601 9.4 RP2 RPGR
4 protein folding GO:0006457 9.37 RP2 TBCE
5 cell projection organization GO:0030030 9.32 PRICKLE3 RPGR
6 intraciliary transport GO:0042073 9.16 ARL3 RPGR
7 post-Golgi vesicle-mediated transport GO:0006892 8.96 ARL3 RP2
8 post-chaperonin tubulin folding pathway GO:0007023 8.62 RP2 TBCE

Sources for Retinitis Pigmentosa 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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