CCM2
MCID: CRB191
MIFTS: 53

Cerebral Cavernous Malformations 2 (CCM2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cerebral Cavernous Malformations 2

MalaCards integrated aliases for Cerebral Cavernous Malformations 2:

Name: Cerebral Cavernous Malformations 2 57 74 29 6 72
Cerebral Cavernous Malformations-2 57 13
Cerebral Cavernous Malformation 2 12 15
Ccm2 57 74
Cerebral Cavernous Malformations, Type 2 40
Cavernous Angiomatous Malformations 74
Cavernous Hemangioma of the Brain 74
Cerebral Capillary Malformations 74
Familial Cavernous Angioma 74
Cerebral Cavernoma 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
genetic heterogeneity (see for summary)
sporadic cases often single lesions versus multiple lesions in familial cases


HPO:

32
cerebral cavernous malformations 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0060670
OMIM 57 603284
MeSH 44 D020786
ICD10 33 Q28.3
MedGen 42 C1864041
UMLS 72 C1864041

Summaries for Cerebral Cavernous Malformations 2

UniProtKB/Swiss-Prot : 74 Cerebral cavernous malformations 2: A congenital vascular anomaly of the central nervous system that can result in hemorrhagic stroke, seizures, recurrent headaches, and focal neurologic deficits. The lesions are characterized by grossly enlarged blood vessels consisting of a single layer of endothelium and without any intervening neural tissue, ranging in diameter from a few millimeters to several centimeters.

MalaCards based summary : Cerebral Cavernous Malformations 2, also known as cerebral cavernous malformations-2, is related to cavernous hemangioma and klippel-trenaunay-weber syndrome, and has symptoms including seizures and headache recurrent. An important gene associated with Cerebral Cavernous Malformations 2 is CCM2 (CCM2 Scaffold Protein), and among its related pathways/superpathways are Apoptotic Pathways in Synovial Fibroblasts and ERK Signaling. Affiliated tissues include brain, endothelial and heart, and related phenotypes are seizures and headache

Disease Ontology : 12 A cerebral cavernous malformation that has material basis in mutation in the CCM2 gene on chromosome 7p13.

More information from OMIM: 603284

Related Diseases for Cerebral Cavernous Malformations 2

Diseases in the Cerebral Cavernous Malformations family:

Cerebral Cavernous Malformations 2 Cerebral Cavernous Malformations 3
Cerebral Cavernous Malformation, Familial

Diseases related to Cerebral Cavernous Malformations 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 cavernous hemangioma 32.5 PDCD10 KRIT1 CCM2
2 klippel-trenaunay-weber syndrome 32.5 PDCD10 KRIT1 CCM2
3 cerebral cavernous malformations 3 32.5 PDCD10 MAP3K3 KRIT1 CCM2
4 venous malformations, multiple cutaneous and mucosal 32.3 PDCD10 KRIT1 CCM2
5 cerebral cavernous malformations 30.3 PDCD10 MAP3K3 KRIT1 CCM2L CCM2
6 cavernous malformation 30.0 PDCD10 MAP3K3 KRIT1 CCM2L CCM2
7 vascular disease 11.6
8 hemorrhage, intracerebral 11.3
9 culler-jones syndrome 11.3
10 brain angioma 11.3
11 cerebral angioma 11.3
12 congenital vascular cavernous malformations 11.2
13 familial hemangioma 11.2
14 vascular erectile tumor 11.2
15 medulloblastoma 10.3
16 neuroblastoma 1 10.3
17 cell type benign neoplasm 10.2 PDCD10 KRIT1 CCM2
18 rare surgical neurologic disease 10.2
19 migraine with or without aura 1 10.1
20 triiodothyronine receptor auxiliary protein 10.1
21 ataxia and polyneuropathy, adult-onset 10.1
22 myasthenic syndrome, congenital, 1b, fast-channel 10.1
23 varicocele 10.1
24 hemangioma 10.1
25 cerebrovascular disease 10.1
26 helix syndrome 10.1
27 visual epilepsy 10.1
28 seizure disorder 10.1
29 askin's tumor 10.0 NTRK1 NGF
30 epilepsy 10.0
31 headache 10.0
32 prolactin producing pituitary tumor 10.0 NTRK1 NGF
33 pediatric fibrosarcoma 10.0 NTRK3 NTRK1
34 multiple sclerosis 10.0
35 arteriovenous malformation 10.0
36 retinal vascular disease 10.0
37 chiasmal syndrome 10.0
38 glial tumor 10.0
39 noonan syndrome 1 10.0
40 aortic coarctation 10.0
41 pseudo-turner syndrome 10.0
42 von hippel-lindau syndrome 9.9
43 alpha-ketoglutarate dehydrogenase deficiency 9.9
44 ocular motor apraxia 9.9
45 maturity-onset diabetes of the young 9.9
46 coronary heart disease 1 9.9
47 alacrima, achalasia, and mental retardation syndrome 9.9
48 pain agnosia 9.9
49 cysticercosis 9.9
50 hemiplegia 9.9

Graphical network of the top 20 diseases related to Cerebral Cavernous Malformations 2:



Diseases related to Cerebral Cavernous Malformations 2

Symptoms & Phenotypes for Cerebral Cavernous Malformations 2

Human phenotypes related to Cerebral Cavernous Malformations 2:

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 headache 32 HP:0002315
3 stroke 32 HP:0001297
4 cerebral hemorrhage 32 HP:0001342
5 telangiectasia 32 HP:0001009

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
cerebral cavernous malformations
recurrent headaches
hemorrhagic stroke

Skin Nails Hair Skin:
palmar telangiectases (described in 1 family)

Clinical features from OMIM:

603284

UMLS symptoms related to Cerebral Cavernous Malformations 2:


seizures, headache recurrent

GenomeRNAi Phenotypes related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

26 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.67 MAP2K3 MAP4K2
2 Decreased viability GR00107-A-1 10.67 STK25
3 Decreased viability GR00173-A 10.67 MAP2K3
4 Decreased viability GR00221-A-1 10.67 MAP2K4 MAP4K2 MAP3K3 STK24
5 Decreased viability GR00221-A-2 10.67 MAP4K2 MAP3K3 NTRK3 STK24
6 Decreased viability GR00221-A-3 10.67 MAP2K3 MAP2K4 MAP2K6 MAP4K2 NTRK1
7 Decreased viability GR00221-A-4 10.67 MAP2K4 MAP2K6 MAP4K2 MAP3K3 NTRK3 STK24
8 Decreased viability GR00231-A 10.67 MAP2K4
9 Decreased viability GR00301-A 10.67 MAP2K4 NTRK1 STK25
10 Decreased viability GR00402-S-2 10.67 MAP2K3 MAP2K4 MAP2K6 MAP4K2 NTRK1 MAP3K3
11 Increased cell viability after pRB stimulation GR00230-A-1 9.7 MAP2K3 MAP2K4 MAP2K6 MAP3K3 MAP4K2 NTRK1
12 Increased mitotic index GR00110-A-0 9.13 MAP2K4 MAP3K3 NTRK3
13 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 9.02 KRIT1 MAP2K3 MAP4K2 NTRK1 STK24

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 10.13 CCM2 CCM2L KRIT1 MAP2K3 MAP2K4 MAP3K3
2 cardiovascular system MP:0005385 10.02 CCM2 CCM2L KRIT1 MAP2K4 MAP3K3 NGF
3 hematopoietic system MP:0005397 10.02 CCM2 MAP2K3 MAP2K4 MAP2K6 MAP3K3 NTRK1
4 muscle MP:0005369 9.7 CCM2 CCM2L KRIT1 MAP3K3 NGF NTRK1
5 nervous system MP:0003631 9.7 CCM2 KRIT1 MAP2K4 NGF NTRK1 NTRK3
6 normal MP:0002873 9.28 CCM2 CCM2L MAP2K4 NGF NTRK1 NTRK3

Drugs & Therapeutics for Cerebral Cavernous Malformations 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Modifiers of Disease Severity and Progression in Cerebral Cavernous Malformations Recruiting NCT01764529

Search NIH Clinical Center for Cerebral Cavernous Malformations 2

Genetic Tests for Cerebral Cavernous Malformations 2

Genetic tests related to Cerebral Cavernous Malformations 2:

# Genetic test Affiliating Genes
1 Cerebral Cavernous Malformations 2 29 CCM2

Anatomical Context for Cerebral Cavernous Malformations 2

MalaCards organs/tissues related to Cerebral Cavernous Malformations 2:

41
Brain, Endothelial, Heart, Testes, Skin, Kidney, Placenta

Publications for Cerebral Cavernous Malformations 2

Articles related to Cerebral Cavernous Malformations 2:

(show top 50) (show all 221)
# Title Authors PMID Year
1
A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations. 38 8 71
21543988 2011
2
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 38 8 71
18060436 2008
3
Deletions in CCM2 are a common cause of cerebral cavernous malformations. 38 8 71
17160895 2007
4
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. 38 8 71
14624391 2003
5
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. 38 8
19088123 2009
6
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. 38 8
19088124 2009
7
Large germline deletions and duplication in isolated cerebral cavernous malformation patients. 38 8
17211633 2007
8
Mutations within the MGC4607 gene cause cerebral cavernous malformations. 38 71
14740320 2004
9
Cerebral Cavernous Malformation, Familial 38 71
20301470 2003
10
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. 38 8
9811928 1998
11
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 71
25355838 2014
12
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 71
20298421 2010
13
Familial cerebral cavernomatous malformations associated with palmar capillary telangiectasias. 8
18779516 2008
14
CCM3 and cerebral cavernous malformation disease. 38
31338212 2019
15
Low fluid shear stress conditions contribute to activation of cerebral cavernous malformation signalling pathways. 38
31369819 2019
16
Cavernous angiomas: deconstructing a neurosurgical disease. 38
31261134 2019
17
Molecular diagnostic workflow, clinical interpretation of sequence variants and data repository procedures in 140 individuals with familial cerebral cavernous malformations. 38
31254430 2019
18
Emerging Pharmacologic Targets in Cerebral Cavernous Malformation and Potential Strategies to Alter the Natural History of a Difficult Disease: A Review. 38
30476961 2019
19
Phenotypic characterization of murine models of cerebral cavernous malformations. 38
29946133 2019
20
Rho Kinase Inhibition Blunts Lesion Development and Hemorrhage in Murine Models of Aggressive Pdcd10/Ccm3 Disease. 38
30744543 2019
21
A novel large deletion in CCM1 gene in a Tunisian family. 38
30314744 2019
22
Two Novel CCM2 Heterozygous Mutations Associated with Cerebral Cavernous Malformation in a Chinese Family. 38
30701383 2019
23
A single-center study on 140 patients with cerebral cavernous malformations: 28 new pathogenic variants and functional characterization of a PDCD10 large deletion. 38
30161288 2018
24
Ponatinib (AP24534) inhibits MEKK3-KLF signaling and prevents formation and progression of cerebral cavernous malformations. 38
30417093 2018
25
Systematic pharmacological screens uncover novel pathways involved in cerebral cavernous malformations. 38
30181117 2018
26
Mutational analysis of CCM1, CCM2 and CCM3 in a Han Chinese cohort with multiple cerebral cavernous malformations in Taiwan. 38
29787619 2018
27
Vascular Endothelial (VE)-Cadherin, Endothelial Adherens Junctions, and Vascular Disease. 38
28851747 2018
28
The CCM1-CCM2 complex controls complementary functions of ROCK1 and ROCK2 that are required for endothelial integrity. 38
30030370 2018
29
Chitin/clay microspheres with hierarchical architecture for highly efficient removal of organic dyes. 38
29525150 2018
30
Heg1 and Ccm1/2 proteins control endocardial mechanosensitivity during zebrafish valvulogenesis. 38
29364115 2018
31
Cerebral Cavernous Malformations: An Update on Prevalence, Molecular Genetic Analyses, and Genetic Counselling. 38
29593473 2018
32
Novel KRIT1/CCM1 and MGC4607/CCM2 Gene Variants in Chinese Families With Cerebral Cavernous Malformations. 38
30622508 2018
33
Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance. 38
30487773 2018
34
Recent advances in cerebral cavernous malformation research. 38
31360916 2018
35
First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing. 38
29197946 2018
36
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation. 38
29887830 2018
37
A novel CCM1/KRIT1 heterozygous deletion mutation (c.1919delT) in a Chinese family with familial cerebral cavernous malformation. 38
29169046 2018
38
Dysmorphic Features, Frontal Cerebral Cavernoma, and Hyperglycemia in a Girl with a De Novo Deletion of 7.23 Mb in Region 7p13-p12.1. 38
28387648 2017
39
Molecular diagnosis in cerebral cavernous malformations. 38
26304651 2017
40
Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations. 38
28870584 2017
41
Hereditary Multiple Cerebral Cavernous Malformations Associated with Wilson Disease and Multiple Lipomatosis. 38
28602929 2017
42
High-throughput sequencing of the entire genomic regions of CCM1/KRIT1, CCM2 and CCM3/PDCD10 to search for pathogenic deep-intronic splice mutations in cerebral cavernous malformations. 38
28645800 2017
43
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model. 38
28892037 2017
44
CCM2 and PAK4 act downstream of atrial natriuretic peptide signaling to promote cell spreading. 38
28432261 2017
45
A novel CCM2 variant in a family with non-progressive cognitive complaints and cerebral microbleeds. 38
27277535 2017
46
A Novel CCM1/KRIT1 Heterozygous Nonsense Mutation (c.1864C>T) Associated with Familial Cerebral Cavernous Malformation: a Genetic Insight from an 8-Year Continuous Observational Study. 38
28255959 2017
47
CCM-3 Promotes C. elegans Germline Development by Regulating Vesicle Trafficking Cytokinesis and Polarity. 38
28285997 2017
48
Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations. 38
28000143 2017
49
Review of familial cerebral cavernous malformations and report of seven additional families. 38
27792856 2017
50
A Novel KRIT1/CCM1 Gene Insertion Mutation Associated with Cerebral Cavernous Malformations in a Chinese Family. 38
28160210 2017

Variations for Cerebral Cavernous Malformations 2

ClinVar genetic disease variations for Cerebral Cavernous Malformations 2:

6 (show all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CCM2 NM_031443.3(CCM2): c.23del (p.Gly8fs) deletion Pathogenic 7:45039955-45039955 7:45000356-45000356
2 CCM2 NM_031443.3(CCM2): c.319C> T (p.Gln107Ter) single nucleotide variant Pathogenic rs137852841 7:45104092-45104092 7:45064493-45064493
3 CCM2 CCM2, 4-BP DEL, NT169 deletion Pathogenic
4 CCM2 NM_031443.3(CCM2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs137852842 7:45039933-45039933 7:45000334-45000334
5 CCM2 NM_031443.3(CCM2): c.288+1G> A single nucleotide variant Pathogenic 7:45103601-45103601 7:45064002-45064002
6 CCM2 NM_031443.3(CCM2): c.593T> G (p.Leu198Arg) single nucleotide variant Pathogenic rs137852843 7:45108162-45108162 7:45068563-45068563
7 CCM2 nsv513784 deletion Pathogenic
8 CCM2 CCM2, IVS1, GC-TT, +5 undetermined variant Pathogenic
9 CCM2 NM_031443.3(CCM2): c.30+5_30+6delinsTT indel Pathogenic rs797044623 7:45039967-45039968 7:45000368-45000369
10 CCM2 7p13 deletion (77.6 kb) deletion Pathogenic
11 CCM2 NC_000007.13: g.(?_45077852)_(45116069_?)del deletion Pathogenic 7:45077852-45116069 7:45038253-45076470
12 CCM2 NM_031443.3(CCM2): c.55C> T (p.Arg19Ter) single nucleotide variant Pathogenic rs755800734 7:45077876-45077876 7:45038277-45038277
13 CCM2 NM_031443.3(CCM2): c.42_43insATTTAAACGAGTATTTAAA (p.Ser15delinsIleTer) insertion Pathogenic rs1554365511 7:45077863-45077864 7:45038264-45038265
14 CCM2 NM_031443.3(CCM2): c.219_220del (p.Leu73fs) deletion Pathogenic 7:45103531-45103532 7:45063932-45063933
15 CCM2 NC_000007.13: g.(?_45067304)_(45125711_?)del deletion Pathogenic 7:45067304-45125711 7:45027705-45086112
16 CCM2 NM_031443.3(CCM2): c.610-1G> A single nucleotide variant Pathogenic 7:45109424-45109424 7:45069825-45069825
17 CCM2 NM_031443.3(CCM2): c.30G> A (p.Lys10=) single nucleotide variant Pathogenic 7:45039962-45039962 7:45000363-45000363
18 CCM2 NM_031443.3(CCM2): c.402_405dup (p.Ile136fs) duplication Pathogenic 7:45104174-45104175 7:45064576-45064579
19 CCM2 NM_031443.3(CCM2): c.745+1G> C single nucleotide variant Pathogenic 7:45109561-45109561 7:45069962-45069962
20 CCM2 NM_031443.3(CCM2): c.1234dup (p.Arg412fs) duplication Pathogenic/Likely pathogenic 7:45115555-45115555 7:45075956-45075956
21 CCM2 NM_031443.3(CCM2): c.1248_1249AG[1] (p.Glu417fs) short repeat Pathogenic/Likely pathogenic 7:45115571-45115572 7:45075972-45075973
22 CCM2 NM_031443.3(CCM2): c.30+1G> A single nucleotide variant Pathogenic/Likely pathogenic 7:45039963-45039963 7:45000364-45000364
23 CCM2 NM_031443.3(CCM2): c.31-2A> G single nucleotide variant Likely pathogenic rs1554365507 7:45077850-45077850 7:45038251-45038251
24 CCM2 NM_031443.3(CCM2): c.635T> C (p.Leu212Pro) single nucleotide variant Likely pathogenic rs1554377652 7:45109450-45109450 7:45069851-45069851
25 CCM2 NM_031443.3(CCM2): c.584T> G (p.Leu195Arg) single nucleotide variant Likely pathogenic 7:45108153-45108153 7:45068554-45068554
26 CCM2 NM_031443.3(CCM2): c.638T> C (p.Leu213Pro) single nucleotide variant Uncertain significance 7:45109453-45109453 7:45069854-45069854
27 CCM2 NM_031443.3(CCM2): c.346T> C (p.Ser116Pro) single nucleotide variant Uncertain significance 7:45104119-45104119 7:45064520-45064520
28 CCM2 NM_031443.3(CCM2): c.428_430del (p.Ser143del) deletion Uncertain significance 7:45104201-45104203 7:45064602-45064604
29 CCM2 NM_031443.3(CCM2): c.328G> A (p.Asp110Asn) single nucleotide variant Uncertain significance 7:45104101-45104101 7:45064502-45064502
30 CCM2 NM_031443.3(CCM2): c.612C> T (p.Val204=) single nucleotide variant Likely benign rs181474100 7:45109427-45109427 7:45069828-45069828
31 CCM2 NM_031443.3(CCM2): c.31-10585G> C single nucleotide variant Benign rs2289365 7:45067267-45067267 7:45027668-45027668
32 CCM2 NM_031443.3(CCM2): c.157G> A (p.Val53Ile) single nucleotide variant Benign rs2107732 7:45077978-45077978 7:45038379-45038379
33 CCM2 NM_031443.3(CCM2): c.358G> A (p.Val120Ile) single nucleotide variant Benign rs11552377 7:45104131-45104131 7:45064532-45064532
34 CCM2 NM_031443.3(CCM2): c.915G> A (p.Thr305=) single nucleotide variant Benign rs2289367 7:45113170-45113170 7:45073571-45073571
35 CCM2 NM_031443.3(CCM2): c.204+2040T> C single nucleotide variant not provided rs564132631 7:45080065-45080065 7:45040466-45040466
36 CCM2 NM_031443.3(CCM2): c.205-11867_205-11864delTAAG deletion not provided rs547206569 7:45091650-45091653 7:45052051-45052054
37 CCM2 NM_031443.3(CCM2): c.288+179G> C single nucleotide variant not provided rs137874552 7:45103779-45103779 7:45064180-45064180
38 CCM2 NM_031443.3(CCM2): c.31-18122A> T single nucleotide variant not provided rs182880220 7:45059730-45059730 7:45020131-45020131
39 CCM2 NM_031443.3(CCM2): c.31-14922C> T single nucleotide variant not provided rs776682467 7:45062930-45062930 7:45023331-45023331
40 CCM2 NM_031443.3(CCM2): c.30+2639G> A single nucleotide variant not provided rs181735976 7:45042601-45042601 7:45003002-45003002
41 CCM2 NM_031443.3(CCM2): c.-613A> G single nucleotide variant not provided rs1554353188 7:45039320-45039320 7:44999721-44999721
42 CCM2 NM_031443.3(CCM2): c.30+4465C> T single nucleotide variant not provided rs1554354900 7:45044427-45044427 7:45004828-45004828

UniProtKB/Swiss-Prot genetic disease variations for Cerebral Cavernous Malformations 2:

74
# Symbol AA change Variation ID SNP ID
1 CCM2 p.Leu198Arg VAR_023577 rs137852843
2 CCM2 p.Gln215His VAR_067352
3 CCM2 p.Leu229Gln VAR_067353

Expression for Cerebral Cavernous Malformations 2

Search GEO for disease gene expression data for Cerebral Cavernous Malformations 2.

Pathways for Cerebral Cavernous Malformations 2

Pathways related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 RHOA RAP1A NTRK3 NTRK1 NGF MAP3K3
2
Show member pathways
13.86 RHOA RAP1A NTRK3 NTRK1 NGF MAP3K3
3
Show member pathways
13.73 RHOA RAP1A NTRK3 NTRK1 NGF MAP3K3
4
Show member pathways
13.51 RHOA RAP1A NTRK3 NTRK1 NGF MAP4K2
5
Show member pathways
13.41 RHOA NTRK3 NTRK1 NGF MAP3K3 MAP2K6
6
Show member pathways
13.32 RHOA RAP1A NTRK3 NTRK1 NGF MAP2K6
7
Show member pathways
13.31 RHOA RAP1A NTRK3 NTRK1 NGF MAP3K3
8
Show member pathways
13.27 NTRK3 NTRK1 NGF MAP2K6 MAP2K4 MAP2K3
9
Show member pathways
13.21 RHOA RAP1A MAP3K3 MAP2K6 MAP2K4 MAP2K3
10
Show member pathways
13.05 RHOA NTRK3 NTRK1 NGF MAP2K6 MAP2K4
11
Show member pathways
13.02 RAP1A MAP3K3 MAP2K6 MAP2K4 MAP2K3
12
Show member pathways
12.94 RAP1A NGF MAP3K3 MAP2K6 MAP2K4 MAP2K3
13
Show member pathways
12.93 SMURF1 RHOA MAP3K3 MAP2K6 MAP2K4 MAP2K3
14
Show member pathways
12.93 RHOA RAP1A NGF MAP4K2 MAP3K3 MAP2K6
15
Show member pathways
12.91 RHOA MAP3K3 MAP2K6 MAP2K4 MAP2K3
16
Show member pathways
12.91 RHOA RAP1A MAP3K3 MAP2K6 MAP2K4 MAP2K3
17
Show member pathways
12.82 NTRK1 NGF MAP3K3 MAP2K4 MAP2K3
18
Show member pathways
12.82 RHOA RAP1A MAP3K3 MAP2K6 MAP2K4 MAP2K3
19
Show member pathways
12.77 RHOA RAP1A NTRK3 NTRK1 MAP3K3 MAP2K6
20
Show member pathways
12.7 RHOA RAP1A NTRK1 NGF MAP2K6 MAP2K3
21
Show member pathways
12.67 RHOA RAP1A NTRK3 NTRK1 NGF MAP3K3
22
Show member pathways
12.63 NGF MAP4K2 MAP3K3 MAP2K6 MAP2K4 MAP2K3
23 12.59 RAP1A NTRK1 NGF MAP4K2 MAP3K3 MAP2K6
24
Show member pathways
12.54 MAP4K2 MAP3K3 MAP2K6 MAP2K4 MAP2K3
25
Show member pathways
12.45 RHOA RAP1A NTRK1 NGF MAP3K3 MAP2K6
26
Show member pathways
12.44 MAP3K3 MAP2K6 MAP2K4 MAP2K3
27
Show member pathways
12.44 RAP1A MAP3K3 MAP2K6 MAP2K4 MAP2K3
28
Show member pathways
12.43 RHOA MAP3K3 MAP2K6 MAP2K4 MAP2K3
29
Show member pathways
12.33 RAP1A MAP3K3 MAP2K6 MAP2K4 MAP2K3
30
Show member pathways
12.32 MAP3K3 MAP2K6 MAP2K4 MAP2K3
31
Show member pathways
12.27 RHOA RAP1A NTRK3 NTRK1 NGF MAP2K6
32
Show member pathways
12.26 RAP1A MAP3K3 MAP2K6 MAP2K4 MAP2K3
33
Show member pathways
12.25 SMURF1 MAP2K6 MAP2K4 MAP2K3
34
Show member pathways
12.23 RHOA RAP1A MAP2K6 MAP2K4 MAP2K3
35
Show member pathways
12.21 MAP3K3 MAP2K6 MAP2K4 MAP2K3
36
Show member pathways
12.18 RHOA MAP2K6 MAP2K4 MAP2K3
37
Show member pathways
12.15 MAP4K2 MAP3K3 MAP2K6 MAP2K4
38 12.13 RAP1A NTRK3 NTRK1 NGF
39
Show member pathways
12.09 RHOA RAP1A NGF MAP2K6 MAP2K4 MAP2K3
40 12.08 SMURF1 RHOA MAP2K6 MAP2K4 MAP2K3
41
Show member pathways
12.06 RHOA RAP1A NTRK1 NGF MAP3K3 MAP2K4
42 12.05 RHOA MAP2K6 MAP2K4 MAP2K3
43
Show member pathways
12.02 RAP1A MAP2K6 MAP2K3
44 12.02 RHOA NTRK3 NTRK1 NGF
45
Show member pathways
12.01 MAP2K6 MAP2K4 MAP2K3
46 11.99 RHOA MAP2K6 MAP2K4 MAP2K3
47 11.98 MAP4K2 MAP3K3 MAP2K6 MAP2K4 MAP2K3
48
Show member pathways
11.97 MAP2K6 MAP2K4 MAP2K3
49 11.96 MAP2K6 MAP2K4 MAP2K3
50 11.87 MAP2K6 MAP2K4 MAP2K3

GO Terms for Cerebral Cavernous Malformations 2

Cellular components related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.83 STK25 STK24 SMURF1 RHOA RAP1A PDCD10
2 axon GO:0030424 9.1 SMURF1 RHOA NTRK3 NTRK1 NGF MAP2K4

Biological processes related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

(show all 34)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.97 STK25 STK24 NTRK3 NTRK1 MAP4K2 MAP3K3
2 positive regulation of apoptotic process GO:0043065 9.95 NTRK3 NGF MAP2K6 MAP2K4
3 MAPK cascade GO:0000165 9.91 STK24 MAP4K2 MAP3K3 MAP2K6
4 protein phosphorylation GO:0006468 9.91 STK25 STK24 NTRK3 NTRK1 MAP4K2 MAP3K3
5 positive regulation of protein phosphorylation GO:0001934 9.88 NTRK3 NTRK1 MAP2K6 MAP2K4
6 protein autophosphorylation GO:0046777 9.87 STK25 STK24 NTRK1 MAP3K3
7 positive regulation of neuron projection development GO:0010976 9.82 RAP1A NTRK3 NTRK1
8 small GTPase mediated signal transduction GO:0007264 9.82 RHOA RAP1A KRIT1
9 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.8 NTRK3 NTRK1 NGF
10 peptidyl-tyrosine phosphorylation GO:0018108 9.8 NTRK3 NTRK1 MAP2K6 MAP2K4 MAP2K3
11 ephrin receptor signaling pathway GO:0048013 9.79 RHOA NTRK3 NTRK1
12 neuron projection morphogenesis GO:0048812 9.78 STK24 RHOA NGF
13 response to hydrogen peroxide GO:0042542 9.77 STK25 STK24 PDCD10
14 activation of MAPK activity GO:0000187 9.76 NTRK3 MAP2K6 MAP2K4 MAP2K3
15 activation of MAPKK activity GO:0000186 9.73 NTRK1 NGF MAP3K3
16 phosphatidylinositol-mediated signaling GO:0048015 9.72 RHOA NTRK1 NGF
17 cellular response to nerve growth factor stimulus GO:1990090 9.7 RAP1A NTRK3 NTRK1
18 activation of protein kinase activity GO:0032147 9.7 STK25 STK24 MAP4K2 MAP3K3 MAP2K6 MAP2K4
19 positive regulation of stress-activated MAPK cascade GO:0032874 9.66 STK25 PDCD10
20 positive regulation of Ras protein signal transduction GO:0046579 9.66 NTRK1 NGF
21 neurotrophin TRK receptor signaling pathway GO:0048011 9.65 NTRK1 NGF
22 positive regulation of axonogenesis GO:0050772 9.65 STK25 RHOA NGF
23 stress fiber assembly GO:0043149 9.64 RHOA PDCD10
24 wound healing, spreading of cells GO:0044319 9.63 RHOA PDCD10
25 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 9.62 MAP2K6 MAP2K4
26 establishment of Golgi localization GO:0051683 9.6 STK25 PDCD10
27 mechanoreceptor differentiation GO:0042490 9.58 NTRK3 NTRK1
28 Golgi reassembly GO:0090168 9.54 STK25 PDCD10
29 nerve growth factor signaling pathway GO:0038180 9.54 RAP1A NTRK1 NGF
30 neurotrophin signaling pathway GO:0038179 9.51 NTRK3 NTRK1
31 signal transduction by protein phosphorylation GO:0023014 9.5 STK25 STK24 MAP4K2 MAP3K3 MAP2K6 MAP2K4
32 cellular response to sorbitol GO:0072709 9.49 MAP2K6 MAP2K4
33 intrinsic apoptotic signaling pathway in response to hydrogen peroxide GO:0036481 9.43 STK25 PDCD10
34 stress-activated protein kinase signaling cascade GO:0031098 9.23 STK25 STK24 RHOA MAP4K2 MAP3K3 MAP2K6

Molecular functions related to Cerebral Cavernous Malformations 2 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein serine/threonine kinase activity GO:0004674 9.8 STK25 STK24 MAP4K2 MAP3K3 MAP2K6 MAP2K4
2 protein tyrosine kinase activity GO:0004713 9.77 NTRK3 NTRK1 MAP2K6 MAP2K4 MAP2K3
3 nucleotide binding GO:0000166 9.7 STK25 STK24 MAP4K2 MAP3K3 MAP2K6 MAP2K4
4 kinase activity GO:0016301 9.61 STK25 STK24 NTRK3 NTRK1 MAP4K2 MAP3K3
5 MAP kinase kinase activity GO:0004708 9.58 MAP2K6 MAP2K4 MAP2K3
6 mitogen-activated protein kinase kinase kinase binding GO:0031435 9.52 MAP4K2 MAP2K4
7 GPI-linked ephrin receptor activity GO:0005004 9.51 NTRK3 NTRK1
8 neurotrophin binding GO:0043121 9.48 NTRK3 NTRK1
9 neurotrophin receptor activity GO:0005030 9.46 NTRK3 NTRK1
10 protein kinase activity GO:0004672 9.28 STK25 STK24 NTRK3 NTRK1 MAP4K2 MAP3K3
11 protein binding GO:0005515 10.4 STK25 STK24 SMURF1 RHOA RAP1A PDCD10
12 ATP binding GO:0005524 10.09 STK25 STK24 NTRK3 NTRK1 MAP4K2 MAP3K3
13 transferase activity GO:0016740 10.02 STK25 STK24 SMURF1 NTRK3 NTRK1 MAP4K2

Sources for Cerebral Cavernous Malformations 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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