CCM2
MCID: CRB191
MIFTS: 47

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 56 73 29 6 71
Cerebral Cavernous Malformations-2 56 13
Cerebral Cavernous Malformation 2 12 15
Ccm2 56 73
Cerebral Cavernous Malformations, Type 2 39
Cavernous Angiomatous Malformations 73
Cavernous Hemangioma of the Brain 73
Cerebral Capillary Malformations 73
Familial Cavernous Angioma 73
Cerebral Cavernoma 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
cerebral cavernous malformations 2:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0060670
OMIM 56 603284
MeSH 43 D020786
ICD10 32 Q28.3
MedGen 41 C1864041
UMLS 71 C1864041

Summaries for Cerebral Cavernous Malformations 2

UniProtKB/Swiss-Prot : 73 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 hemangioma and cerebral cavernous malformations 3, 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 Signal transduction_JNK pathway and p38 MAPK signaling pathway (Pathway Interaction Database). Affiliated tissues include brain, endothelial and heart, and related phenotypes are stroke 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 73)
# Related Disease Score Top Affiliating Genes
1 hemangioma 32.2 PDCD10 KRIT1 CCM2
2 cerebral cavernous malformations 3 31.6 STK25 PDCD10 KRIT1 CCM2
3 cerebral angioma 31.4 PDCD10 KRIT1 CCM2
4 intracranial structure hemangioma 31.4 PDCD10 KRIT1 CCM2
5 klippel-trenaunay-weber syndrome 31.3 PDCD10 KRIT1 CCM2
6 intracranial cavernous angioma 31.3 PDCD10 KRIT1 CCM2
7 venous malformations, multiple cutaneous and mucosal 31.2 PDCD10 KRIT1 CCM2
8 hemangioma of liver 31.1 PDCD10 KRIT1 CCM2L CCM2
9 hemorrhagic disease 30.9 PDCD10 KRIT1 CCM2
10 cavernous hemangioma 30.8 PDCD10 KRIT1 ITGB1BP1 CCM2
11 brain angioma 30.1 RAP2A PDCD10 KRIT1 ITGB1BP1 CCM2
12 cerebral cavernous malformation, familial 29.6 PDCD10 KRIT1 CCM2
13 cavernous malformation 28.2 STK25 PDCD10 KRIT1 ITGB1BP1 CCM2L CCM2
14 cerebrocostomandibular syndrome 28.1 STK25 RAP2A RAP1B PDCD10 MAP3K3 KRIT1
15 cerebral cavernous malformations 26.8 STK25 RAP2A RAP1B PDCD10 MAP3K3 KRIT1
16 vascular disease 11.6
17 congenital vascular cavernous malformations 11.2
18 familial hemangioma 11.2
19 vascular erectile tumor 11.2
20 hemorrhage, intracerebral 11.1
21 culler-jones syndrome 11.1
22 medulloblastoma 10.3
23 neuroblastoma 10.3
24 triiodothyronine receptor auxiliary protein 10.1
25 ataxia and polyneuropathy, adult-onset 10.1
26 myasthenic syndrome, congenital, 1b, fast-channel 10.1
27 varicocele 10.1
28 cerebrovascular disease 10.1
29 epilepsy 10.1
30 visual epilepsy 10.1
31 seizure disorder 10.1
32 helix syndrome 10.1
33 headache 10.0
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 pseudo-turner syndrome 10.0
41 von hippel-lindau syndrome 9.9
42 alpha-ketoglutarate dehydrogenase deficiency 9.9
43 ocular motor apraxia 9.9
44 maturity-onset diabetes of the young 9.9
45 coronary heart disease 1 9.9
46 alacrima, achalasia, and mental retardation syndrome 9.9
47 aphasia 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:

31
# Description HPO Frequency HPO Source Accession
1 stroke 31 HP:0001297
2 headache 31 HP:0002315
3 cerebral hemorrhage 31 HP:0001342
4 telangiectasia 31 HP:0001009
5 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
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

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.63 CCM2 CCM2L KRIT1 MAP3K3 PDCD10 RAP1B
2 mortality/aging MP:0010768 9.56 CCM2 CCM2L ITGB1BP1 KRIT1 MAP3K3 PDCD10
3 muscle MP:0005369 9.02 CCM2 CCM2L KRIT1 MAP3K3 PDCD10

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:

40
Brain, Endothelial, Heart, Testes, Kidney, Lung, Skin

Publications for Cerebral Cavernous Malformations 2

Articles related to Cerebral Cavernous Malformations 2:

(show top 50) (show all 257)
# 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. 56 6 61
21543988 2011
2
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 6 56 61
18060436 2008
3
Deletions in CCM2 are a common cause of cerebral cavernous malformations. 61 6 56
17160895 2007
4
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. 6 56 61
14624391 2003
5
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. 61 56
19088123 2009
6
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. 61 56
19088124 2009
7
Large germline deletions and duplication in isolated cerebral cavernous malformation patients. 56 61
17211633 2007
8
Mutations within the MGC4607 gene cause cerebral cavernous malformations. 61 6
14740320 2004
9
Cerebral Cavernous Malformation, Familial 61 6
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. 56 61
9811928 1998
11
Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 6
25355838 2014
12
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
13
Familial cerebral cavernomatous malformations associated with palmar capillary telangiectasias. 56
18779516 2008
14
Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice. 61
32502201 2020
15
Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations. 61
31937560 2020
16
Emerging roles of CCM genes during tumorigenesis with potential application as novel biomarkers across major types of cancers. 61
32186778 2020
17
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3. 61
32515053 2020
18
An efficient hybrid feature selection method to identify potential biomarkers in common chronic lung inflammatory diseases. 61
32540493 2020
19
A Brain-Targeted Orally Available ROCK2 Inhibitor Benefits Mild and Aggressive Cavernous Angioma Disease. 61
31446620 2020
20
Tiered analysis of whole-exome sequencing for epilepsy diagnosis. 61
32146541 2020
21
Redefining PTB domain into independently functional dual cores. 61
32029278 2020
22
KRIT1 loss-mediated upregulation of NOX1 in stromal cells promotes paracrine pro-angiogenic responses. 61
31917192 2020
23
First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations. 61
32286434 2020
24
Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish. 61
32248732 2020
25
Novel Chronic Mouse Model of Cerebral Cavernous Malformations. 61
31992178 2020
26
Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy. 61
31742804 2020
27
A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene. 61
32170606 2020
28
From Genes and Mechanisms to Molecular-Targeted Therapies: The Long Climb to the Cure of Cerebral Cavernous Malformation (CCM) Disease. 61
32524540 2020
29
Production of KRIT1-knockout and KRIT1-knockin Mouse Embryonic Fibroblasts as Cellular Models of CCM Disease. 61
32524551 2020
30
Bidimentional In Vitro Angiogenic Assays to Study CCM Pathogenesis: Endothelial Cell Proliferation and Migration. 61
32524566 2020
31
A novel CCM3 mutation associated with cerebral cavernous malformation in a Chinese family. 61
32071616 2020
32
Generation of Cerebral Cavernous Malformation in Neonatal Mouse Models Using Inducible Cre-LoxP Strategy. 61
32524557 2020
33
CRISPR/Cas9-mediated Generation of Human Endothelial Cell Knockout Models of CCM Disease. 61
32524552 2020
34
Vertebrate Models to Investigate CCM Pathogenesis: The Zebrafish and Mouse Model. 61
32524556 2020
35
VEGF signalling enhances lesion burden in KRIT1 deficient mice. 61
31746130 2020
36
Systems Wide Analysis of CCM Signaling Complex Alterations in CCM-Deficient Models Using Omics Approaches. 61
32524563 2020
37
Cavernous Malformation Hemorrhagic Presentation at Diagnosis Associated with Low 25-Hydroxy-Vitamin D Level. 61
32348981 2020
38
Domestic waste emissions to European waters in the 2010s. 61
31974365 2020
39
Crystallographic Studies of the Cerebral Cavernous Malformations Proteins. 61
32524560 2020
40
Notch Signaling in Familial Cerebral Cavernous Malformations and Immunohistochemical Detection of Cleaved Notch1 Intracellular Domain. 61
32524570 2020
41
Detection of p62/SQSTM1 Aggregates in Cellular Models of CCM Disease by Immunofluorescence. 61
32524569 2020
42
A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation. 61
32117029 2020
43
Systems-wide analysis unravels the new roles of CCM signal complex (CSC). 61
31872111 2019
44
Molecular diagnostic workflow, clinical interpretation of sequence variants, and data repository procedures in 140 individuals with familial cerebral cavernous malformations. 61
31254430 2019
45
Distinct cellular roles for PDCD10 define a gut-brain axis in cerebral cavernous malformation. 61
31776290 2019
46
Alternatively spliced isoforms reveal a novel type of PTB domain in CCM2 protein. 61
31676827 2019
47
Low fluid shear stress conditions contribute to activation of cerebral cavernous malformation signalling pathways. 61
31369819 2019
48
Arp2/3-Branched Actin Maintains an Active Pool of GTP-RhoA and Controls RhoA Abundance. 61
31623230 2019
49
Blood Flow Suppresses Vascular Anomalies in a Zebrafish Model of Cerebral Cavernous Malformations. 61
31495257 2019
50
CCM1 and CCM2 variants in patients with cerebral cavernous malformation in an ethnically Chinese population in Taiwan. 61
31455779 2019

Variations for Cerebral Cavernous Malformations 2

ClinVar genetic disease variations for Cerebral Cavernous Malformations 2:

6 (show top 50) (show all 63) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCM2 NM_001029835.2(CCM2):c.118C>T (p.Arg40Ter)SNV Pathogenic 447028 rs755800734 7:45077876-45077876 7:45038277-45038277
2 CCM2 NM_001029835.2(CCM2):c.105_106insATTTAAACGAGTATTTAAA (p.Ser36delinsIleTer)insertion Pathogenic 468336 rs1554365511 7:45077863-45077864 7:45038264-45038265
3 CCM2 NC_000007.14:g.(?_45038253)_(45076470_?)deldeletion Pathogenic 468334 7:45077852-45116069 7:45038253-45076470
4 CCM2 NM_001029835.2(CCM2):c.282_283del (p.Leu94fs)deletion Pathogenic 570247 rs1562906798 7:45103531-45103532 7:45063932-45063933
5 CCM2 NC_000007.14:g.(?_45027705)_(45086112_?)deldeletion Pathogenic 584080 7:45067304-45125711 7:45027705-45086112
6 CCM2 NM_001029835.2(CCM2):c.673-1G>ASNV Pathogenic 590663 rs1562913873 7:45109424-45109424 7:45069825-45069825
7 CCM2 NM_001029835.2(CCM2):c.134del (p.Gly45fs)deletion Pathogenic 618554 rs1562881854 7:45077891-45077891 7:45038292-45038292
8 CCM2 NM_031443.3(CCM2):c.30G>A (p.Lys10=)SNV Pathogenic 662968 7:45039962-45039962 7:45000363-45000363
9 CCM2 NM_001029835.2(CCM2):c.465_468dup (p.Ile157fs)duplication Pathogenic 661878 7:45104174-45104175 7:45064575-45064576
10 CCM2 NM_001029835.2(CCM2):c.808+1G>CSNV Pathogenic 650894 7:45109561-45109561 7:45069962-45069962
11 CCM2 NC_000007.14:g.(?_45038233)_(45038446_?)deldeletion Pathogenic 832896 7:45077832-45078045
12 CCM2 NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter)SNV Pathogenic 857759 7:45104127-45104127 7:45064528-45064528
13 CCM2 NM_031443.4(CCM2):c.839C>G (p.Ser280Ter)SNV Pathogenic 838138 7:45113094-45113094 7:45073495-45073495
14 CCM2 NM_031443.4(CCM2):c.970G>T (p.Glu324Ter)SNV Pathogenic 862971 7:45113923-45113923 7:45074324-45074324
15 CCM2 NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter)SNV Pathogenic 849329 7:45115399-45115399 7:45075800-45075800
16 CCM2 NM_031443.3(CCM2):c.23del (p.Gly8fs)deletion Pathogenic 2680 rs1562848466 7:45039953-45039953 7:45000354-45000354
17 CCM2 NM_001029835.2(CCM2):c.382C>T (p.Gln128Ter)SNV Pathogenic 2681 rs137852841 7:45104092-45104092 7:45064493-45064493
18 CCM2 CCM2, 4-BP DEL, NT169deletion Pathogenic 2683
19 CCM2 NM_031443.3(CCM2):c.1A>G (p.Met1Val)SNV Pathogenic 2684 rs137852842 7:45039933-45039933 7:45000334-45000334
20 CCM2 NM_001029835.2(CCM2):c.351+1G>ASNV Pathogenic 2685 rs1562906981 7:45103601-45103601 7:45064002-45064002
21 CCM2 NM_001029835.2(CCM2):c.656T>G (p.Leu219Arg)SNV Pathogenic 2686 rs137852843 7:45108162-45108162 7:45068563-45068563
22 CCM2 nsv513784deletion Pathogenic 2688
23 CCM2 CCM2, IVS1, GC-TT, +5undetermined variant Pathogenic 30688
24 CCM2 NM_031443.3(CCM2):c.30+5_30+6delinsTTindel Pathogenic 193463 rs797044623 7:45039967-45039968 7:45000368-45000369
25 CCM2 7p13 deletion (77.6 kb)deletion Pathogenic 253004
26 CCM2 NM_001029835.2(CCM2):c.1297dup (p.Arg433fs)duplication Pathogenic/Likely pathogenic 590645 rs1331484727 7:45115553-45115554 7:45075954-45075955
27 CCM2 NM_001029835.2(CCM2):c.1311_1312AG[1] (p.Glu438fs)short repeat Pathogenic/Likely pathogenic 585627 rs1562921605 7:45115569-45115570 7:45075970-45075971
28 CCM2 NM_031443.3(CCM2):c.30+1G>ASNV Pathogenic/Likely pathogenic 590655 rs1562848479 7:45039963-45039963 7:45000364-45000364
29 CCM2 NM_001029835.2(CCM2):c.232A>T (p.Arg78Ter)SNV Pathogenic/Likely pathogenic 590650 rs1562882049 7:45077990-45077990 7:45038391-45038391
30 CCM2 NM_001029835.2(CCM2):c.698T>C (p.Leu233Pro)SNV Likely pathogenic 468338 rs1554377652 7:45109450-45109450 7:45069851-45069851
31 CCM2 NM_001029835.2(CCM2):c.94-2A>GSNV Likely pathogenic 468335 rs1554365507 7:45077850-45077850 7:45038251-45038251
32 CCM2 NM_031443.4(CCM2):c.7G>T (p.Glu3Ter)SNV Likely pathogenic 873433 7:45039939-45039939 7:45000340-45000340
33 CCM2 NM_001029835.2(CCM2):c.647T>G (p.Leu216Arg)SNV Likely pathogenic 562020 rs1562912426 7:45108153-45108153 7:45068554-45068554
34 CCM2 NM_001029835.2(CCM2):c.701T>C (p.Leu234Pro)SNV Conflicting interpretations of pathogenicity 655527 7:45109453-45109453 7:45069854-45069854
35 CCM2 NM_001029835.2(CCM2):c.491_493del (p.Ser164del)deletion Uncertain significance 575300 rs1562907973 7:45104199-45104201 7:45064600-45064602
36 CCM2 NM_001029835.2(CCM2):c.391G>A (p.Asp131Asn)SNV Uncertain significance 650820 7:45104101-45104101 7:45064502-45064502
37 CCM2 NM_001029835.2(CCM2):c.409T>C (p.Ser137Pro)SNV Uncertain significance 569848 rs1562907616 7:45104119-45104119 7:45064520-45064520
38 CCM2 NM_031443.4(CCM2):c.698T>C (p.Ile233Thr)SNV Uncertain significance 848889 7:45109513-45109513 7:45069914-45069914
39 CCM2 NM_031443.4(CCM2):c.48A>T (p.Pro16=)SNV Likely benign 810940 7:45077869-45077869 7:45038270-45038270
40 CCM2 NM_001029835.2(CCM2):c.675C>T (p.Val225=)SNV Likely benign 468337 rs181474100 7:45109427-45109427 7:45069828-45069828
41 CCM2 NM_031443.4(CCM2):c.1217C>T (p.Thr406Met)SNV Likely benign 698208 7:45115538-45115538 7:45075939-45075939
42 CCM2 NM_001029835.2(CCM2):c.867-5C>TSNV Benign/Likely benign 585628 rs145003686 7:45113054-45113054 7:45073455-45073455
43 CCM2 NM_001029835.2(CCM2):c.309C>T (p.Pro103=)SNV Benign/Likely benign 261968 rs148244188 7:45103558-45103558 7:45063959-45063959
44 CCM2 NM_001029835.2(CCM2):c.421G>A (p.Val141Ile)SNV Benign 261971 rs11552377 7:45104131-45104131 7:45064532-45064532
45 CCM2 NM_001029835.2(CCM2):c.447G>A (p.Glu149=)SNV Benign 261972 rs73694268 7:45104157-45104157 7:45064558-45064558
46 CCM2 NM_001029835.2(CCM2):c.929G>A (p.Ser310Asn)SNV Benign 261974 rs2289366 7:45113121-45113121 7:45073522-45073522
47 CCM2 NM_001029835.2(CCM2):c.978G>A (p.Thr326=)SNV Benign 261975 rs2289367 7:45113170-45113170 7:45073571-45073571
48 CCM2 NM_001029835.2(CCM2):c.220G>A (p.Val74Ile)SNV Benign 261965 rs2107732 7:45077978-45077978 7:45038379-45038379
49 CCM2 NM_001029835.2(CCM2):c.1323G>A (p.Glu441=)SNV Benign 590646 rs2304691 7:45115581-45115581 7:45075982-45075982
50 CCM2 NM_031443.4(CCM2):c.804-9C>GSNV Benign 702110 7:45113050-45113050 7:45073451-45073451

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

73
# 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:

# Super pathways Score Top Affiliating Genes
1 10.8 MAP4K2 MAP3K3
2 10.42 MAP3K3 CCM2
3 10.05 MAP3K3 CCM2

GO Terms for Cerebral Cavernous Malformations 2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.69 PDCD10 KRIT1 ITGB1BP1
2 regulation of mitotic cell cycle GO:0007346 9.58 STK25 MAP4K2 MAP3K3
3 cellular response to drug GO:0035690 9.57 RAP2A RAP1B
4 blood vessel development GO:0001568 9.56 MAP3K3 CCM2
5 response to hydrogen peroxide GO:0042542 9.55 STK25 PDCD10
6 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.54 PDCD10 ITGB1BP1
7 activation of protein kinase activity GO:0032147 9.54 STK25 MAP4K2 MAP3K3
8 positive regulation of Notch signaling pathway GO:0045747 9.52 PDCD10 ITGB1BP1
9 positive regulation of stress-activated MAPK cascade GO:0032874 9.49 STK25 PDCD10
10 regulation of establishment of cell polarity GO:2000114 9.48 RAP1B KRIT1
11 microvillus assembly GO:0030033 9.46 RAP2A RAP1B
12 Rap protein signal transduction GO:0032486 9.43 RAP2A RAP1B
13 stress-activated protein kinase signaling cascade GO:0031098 9.33 STK25 MAP4K2 MAP3K3
14 establishment of Golgi localization GO:0051683 9.32 STK25 PDCD10
15 Golgi reassembly GO:0090168 9.26 STK25 PDCD10
16 signal transduction by protein phosphorylation GO:0023014 9.13 STK25 MAP4K2 MAP3K3
17 intrinsic apoptotic signaling pathway in response to hydrogen peroxide GO:0036481 8.62 STK25 PDCD10

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

# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 9.02 STK25 RAP2A RAP1B MAP4K2 MAP3K3
2 GDP binding GO:0019003 8.96 RAP2A RAP1B

Sources for Cerebral Cavernous Malformations 2

3 CDC
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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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