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CCM2
MCID: CRB191
MIFTS: 45

Cerebral Cavernous Malformations 2 (CCM2)

Categories: Cardiovascular diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Cerebral Cavernous Malformations 2

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MalaCards integrated aliases for Cerebral Cavernous Malformations 2:

Name: Cerebral Cavernous Malformations 2 57 72 29 6 70
Cerebral Cavernous Malformations-2 57 13
Cerebral Cavernous Malformation 2 12 15
Ccm2 57 72
Cerebral Cavernous Malformations, Type 2 39
Cavernous Angiomatous Malformations 72
Cavernous Hemangioma of the Brain 72
Cerebral Capillary Malformations 72
Familial Cavernous Angioma 72
Cerebral Cavernoma 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Cardiovascular diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0060670
OMIM® 57 603284
OMIM Phenotypic Series 57 PS116860
MeSH 44 D020786
ICD10 32 Q28.3
MedGen 41 C1864041
UMLS 70 C1864041
Sources

Summaries for Cerebral Cavernous Malformations 2

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UniProtKB/Swiss-Prot : 72 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 hemangioma, 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 placenta, 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 PS116860
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Related Diseases for Cerebral Cavernous Malformations 2

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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 all 45)
# Related Disease Score Top Affiliating Genes
1 cavernous hemangioma 31.6 PDCD10 KRIT1 CCM2
2 hemangioma 31.5 PDCD10 KRIT1 CCM2
3 cerebral cavernous malformations 3 31.5 STK25 PDCD10 KRIT1 CCM2
4 intracranial structure hemangioma 31.1 PDCD10 KRIT1 CCM2
5 intracranial cavernous angioma 31.1 PDCD10 KRIT1 CCM2
6 cerebral angioma 31.1 PDCD10 KRIT1 CCM2
7 venous malformations, multiple cutaneous and mucosal 31.0 PDCD10 KRIT1 CCM2
8 vascular disease 31.0 PDCD10 KRIT1 CCM2
9 klippel-trenaunay-weber syndrome 31.0 PDCD10 MAP3K3 KRIT1 CCM2
10 hemangioma of liver 30.9 PDCD10 KRIT1 CCM2L CCM2
11 cavernous malformation 30.7 STK25 PDCD10 KRIT1 ITGB1BP1 CCM2L CCM2
12 brain angioma 30.5 PDCD10 KRIT1 ITGB1BP1 CCM2
13 hemorrhagic disease 30.2 PDCD10 KRIT1 ITGB1BP1 CCM2
14 cerebral cavernous malformation, familial 29.9 PDCD10 KRIT1 CCM2
15 cerebrocostomandibular syndrome 28.7 STK25 RAP2A RAP1B PDCD10 MAP3K3 KRIT1
16 cerebral cavernous malformations 27.9 STK25 RAP2A RAP1B PDCD10 MAP3K3 KRIT1
17 congenital vascular cavernous malformations 10.9
18 familial hemangioma 10.9
19 vascular erectile tumor 10.9
20 hemorrhage, intracerebral 10.8
21 culler-jones syndrome 10.8
22 noonan syndrome 1 10.1
23 pseudo-turner syndrome 10.1
24 helix syndrome 10.0
25 cranial nerve palsy 10.0
26 medulloblastoma 10.0
27 myasthenic syndrome, congenital, 1b, fast-channel 10.0
28 epilepsy 10.0
29 neuroblastoma 10.0
30 arteriovenous malformation 10.0
31 alpha-ketoglutarate dehydrogenase deficiency 9.9
32 type 1 diabetes mellitus 9.9
33 maturity-onset diabetes of the young 9.9
34 alacrima, achalasia, and mental retardation syndrome 9.9
35 hemiplegia 9.9
36 von willebrand's disease 9.9
37 hyperglycemia 9.9
38 vasculitis 9.9
39 hypopituitarism 9.9
40 seizure disorder 9.9
41 ataxia and polyneuropathy, adult-onset 9.9
42 varicocele 9.9
43 cerebrovascular disease 9.9
44 headache 9.9
45 hepatosplenic t-cell lymphoma 9.6

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



Diseases related to Cerebral Cavernous Malformations 2
Sources

Symptoms & Phenotypes for Cerebral Cavernous Malformations 2

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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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

UMLS symptoms related to Cerebral Cavernous Malformations 2:


seizures; headache recurrent

MGI Mouse Phenotypes related to Cerebral Cavernous Malformations 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.56 CCM2 CCM2L ITGB1BP1 KRIT1 MAP3K3 PDCD10
2 muscle MP:0005369 9.02 CCM2 CCM2L KRIT1 MAP3K3 PDCD10
Sources

Drugs & Therapeutics for Cerebral Cavernous Malformations 2

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Search Clinical Trials , NIH Clinical Center for Cerebral Cavernous Malformations 2

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Genetic Tests for Cerebral Cavernous Malformations 2

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Genetic tests related to Cerebral Cavernous Malformations 2:

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

Anatomical Context for Cerebral Cavernous Malformations 2

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MalaCards organs/tissues related to Cerebral Cavernous Malformations 2:

40
Brain, Endothelial, Placenta, Testes, Liver, Heart, Kidney
Sources

Publications for Cerebral Cavernous Malformations 2

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Articles related to Cerebral Cavernous Malformations 2:

(show top 50) (show all 274)
# 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. 6 57 61
21543988 2011
2
A two-hit mechanism causes cerebral cavernous malformations: complete inactivation of CCM1, CCM2 or CCM3 in affected endothelial cells. 61 6 57
19088124 2009
3
Different spectra of genomic deletions within the CCM genes between Italian and American CCM patient cohorts. 57 6 61
18060436 2008
4
Deletions in CCM2 are a common cause of cerebral cavernous malformations. 61 57 6
17160895 2007
5
Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. 6 57 61
14624391 2003
6
Review of familial cerebral cavernous malformations and report of seven additional families. 61 6
27792856 2017
7
Mutation prevalence of cerebral cavernous malformation genes in Spanish patients. 61 6
24466005 2014
8
CCM molecular screening in a diagnosis context: novel unclassified variants leading to abnormal splicing and importance of large deletions. 61 6
23595507 2013
9
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis. 61 57
19088123 2009
10
Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex. 61 6
18300272 2008
11
Large germline deletions and duplication in isolated cerebral cavernous malformation patients. 61 57
17211633 2007
12
CCM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. 6 61
15122722 2004
13
Mutations within the MGC4607 gene cause cerebral cavernous malformations. 6 61
14740320 2004
14
Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. 57 61
9811928 1998
15
Familial cerebral cavernomatous malformations associated with palmar capillary telangiectasias. 57
18779516 2008
16
Verapamil alters the relationship between renal perfusion pressure and glomerular filtration rate and renin release: the mechanism of the antihypertensive effect. 6
2468908 1988
17
Molecular Genetic Features of Cerebral Cavernous Malformations (CCM) Patients: An Overall View from Genes to Endothelial Cells. 61
33810005 2021
18
CTCFL expression is associated with cerebral vascular abnormalities. 61
33756271 2021
19
Propranolol inhibits cavernous vascular malformations by β1 adrenergic receptor antagonism in animal models. 61
33301422 2021
20
MEKK2 and MEKK3 orchestrate multiple signals to regulate Hippo pathway. 61
33571521 2021
21
Improving clinical interpretation of five KRIT1 and PDCD10 intronic variants. 61
33604894 2021
22
Caveolae-mediated Tie2 signaling contributes to CCM pathogenesis in a brain endothelial cell-specific Pdcd10-deficient mouse model. 61
33495460 2021
23
Towards precision nanomedicine for cerebrovascular diseases with emphasis on Cerebral Cavernous Malformation (CCM). 61
33406376 2021
24
Transcriptome analysis provides new molecular signatures in sporadic Cerebral Cavernous Malformation endothelial cells. 61
32877751 2020
25
DNA promoter methylation of CCM genes in human cerebral cavernous malformations: Importance of confirming MSP data through sequencing. 61
33122157 2020
26
Mapping endothelial-cell diversity in cerebral cavernous malformations at single-cell resolution. 61
33138917 2020
27
Signalling through cerebral cavernous malformation protein networks. 61
33234067 2020
28
First Report of Concomitant Pathogenic Mutations Within MGC4607/CCM2 and KRIT1/CCM1 in a Familial Cerebral Cavernous Malformation Patient. 61
32615293 2020
29
A British family with familial cerebral cavernous malformation due to a rare mutation of the CCM2 gene. 61
32170606 2020
30
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations. 61
33105631 2020
31
An efficient hybrid feature selection method to identify potential biomarkers in common chronic lung inflammatory diseases. 61
32540493 2020
32
Mural Cell-Specific Deletion of Cerebral Cavernous Malformation 3 in the Brain Induces Cerebral Cavernous Malformations. 61
32640906 2020
33
Fibronectin rescues aberrant phenotype of endothelial cells lacking either CCM1, CCM2 or CCM3. 61
32515053 2020
34
Familial cerebral cavernous malformation presenting with epilepsy caused by mutation in the CCM2 gene: A case report. 61
32702807 2020
35
Emerging roles of CCM genes during tumorigenesis with potential application as novel biomarkers across major types of cancers. 61
32186778 2020
36
Novel CCM2 missense variants abrogating the CCM1-CCM2 interaction cause cerebral cavernous malformations. 61
31937560 2020
37
Targeting miR-27a/VE-cadherin interactions rescues cerebral cavernous malformations in mice. 61
32502201 2020
38
A Brain-Targeted Orally Available ROCK2 Inhibitor Benefits Mild and Aggressive Cavernous Angioma Disease. 61
31446620 2020
39
Tiered analysis of whole-exome sequencing for epilepsy diagnosis. 61
32146541 2020
40
Redefining PTB domain into independently functional dual cores. 61
32029278 2020
41
KRIT1 loss-mediated upregulation of NOX1 in stromal cells promotes paracrine pro-angiogenic responses. 61
31917192 2020
42
Mutations of RNF213 are responsible for sporadic cerebral cavernous malformation and lead to a mulberry-like cluster in zebrafish. 61
32248732 2020
43
First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations. 61
32286434 2020
44
Novel Chronic Mouse Model of Cerebral Cavernous Malformations. 61
31992178 2020
45
Exome sequencing identifies a FHOD3 p.S527del mutation in a Chinese family with hypertrophic cardiomyopathy. 61
31742804 2020
46
Crystallographic Studies of the Cerebral Cavernous Malformations Proteins. 61
32524560 2020
47
Notch Signaling in Familial Cerebral Cavernous Malformations and Immunohistochemical Detection of Cleaved Notch1 Intracellular Domain. 61
32524570 2020
48
A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family. 61
33469417 2020
49
Comparative omics of CCM signaling complex (CSC). 61
32922933 2020
50
A Novel CCM2 Gene Mutation Associated With Cerebral Cavernous Malformation. 61
32117029 2020
Sources

Variations for Cerebral Cavernous Malformations 2

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ClinVar genetic disease variations for Cerebral Cavernous Malformations 2:

6 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCM2 7p13 deletion (77.6 kb) Deletion Pathogenic 253004 GRCh37:
GRCh38:
2 CCM2 NC_000007.14:g.(?_45038233)_(45038446_?)del Deletion Pathogenic 832896 GRCh37: 7:45077832-45078045
GRCh38:
3 CCM2 NM_031443.4(CCM2):c.839C>G (p.Ser280Ter) SNV Pathogenic 838138 GRCh37: 7:45113094-45113094
GRCh38: 7:45073495-45073495
4 CCM2 NM_031443.4(CCM2):c.1078A>T (p.Lys360Ter) SNV Pathogenic 849329 GRCh37: 7:45115399-45115399
GRCh38: 7:45075800-45075800
5 CCM2 NM_031443.4(CCM2):c.354C>A (p.Tyr118Ter) SNV Pathogenic 857759 GRCh37: 7:45104127-45104127
GRCh38: 7:45064528-45064528
6 CCM2 NM_031443.4(CCM2):c.970G>T (p.Glu324Ter) SNV Pathogenic 862971 GRCh37: 7:45113923-45113923
GRCh38: 7:45074324-45074324
7 CCM2 NM_001029835.2(CCM2):c.808+1G>C SNV Pathogenic 650894 rs1583984070 GRCh37: 7:45109561-45109561
GRCh38: 7:45069962-45069962
8 CCM2 NM_031443.3(CCM2):c.30G>A (p.Lys10=) SNV Pathogenic 662968 rs1583819255 GRCh37: 7:45039962-45039962
GRCh38: 7:45000363-45000363
9 CCM2 NM_031443.4(CCM2):c.745+2T>C SNV Pathogenic 963406 GRCh37: 7:45109562-45109562
GRCh38: 7:45069963-45069963
10 CCM2 NM_031443.4(CCM2):c.130_131del (p.Thr44fs) Microsatellite Pathogenic 952312 GRCh37: 7:45077948-45077949
GRCh38: 7:45038349-45038350
11 CCM2 NM_001029835.2(CCM2):c.105_106insATTTAAACGAGTATTTAAA (p.Ser36delinsIleTer) Insertion Pathogenic 468336 rs1554365511 GRCh37: 7:45077863-45077864
GRCh38: 7:45038264-45038265
12 CCM2 NM_031443.3(CCM2):c.23del (p.Gly8fs) Deletion Pathogenic 2680 rs1562848466 GRCh37: 7:45039953-45039953
GRCh38: 7:45000354-45000354
13 CCM2 NM_001029835.2(CCM2):c.382C>T (p.Gln128Ter) SNV Pathogenic 2681 rs137852841 GRCh37: 7:45104092-45104092
GRCh38: 7:45064493-45064493
14 CCM2 CCM2, 4-BP DEL, NT169 Deletion Pathogenic 2683 GRCh37:
GRCh38:
15 CCM2 NM_031443.3(CCM2):c.1A>G (p.Met1Val) SNV Pathogenic 2684 rs137852842 GRCh37: 7:45039933-45039933
GRCh38: 7:45000334-45000334
16 CCM2 NM_001029835.2(CCM2):c.351+1G>A SNV Pathogenic 2685 rs1562906981 GRCh37: 7:45103601-45103601
GRCh38: 7:45064002-45064002
17 CCM2 NM_001029835.2(CCM2):c.656T>G (p.Leu219Arg) SNV Pathogenic 2686 rs137852843 GRCh37: 7:45108162-45108162
GRCh38: 7:45068563-45068563
18 CCM2 nsv513784 Deletion Pathogenic 2688 GRCh37:
GRCh38:
19 CCM2 CCM2, IVS1DS, GC-TT, +5 Variation Pathogenic 30688 GRCh37:
GRCh38:
20 CCM2 NM_001029835.2(CCM2):c.134del (p.Gly45fs) Deletion Pathogenic 618554 rs1562881854 GRCh37: 7:45077891-45077891
GRCh38: 7:45038292-45038292
21 CCM2 NC_000007.14:g.(?_45038253)_(45076470_?)del Deletion Pathogenic 468334 GRCh37: 7:45077852-45116069
GRCh38: 7:45038253-45076470
22 CCM2 NM_031443.4(CCM2):c.643C>T (p.Gln215Ter) SNV Pathogenic 1030944 GRCh37: 7:45109458-45109458
GRCh38: 7:45069859-45069859
23 CCM2 NM_001029835.2(CCM2):c.673-1G>A SNV Pathogenic 590663 rs1562913873 GRCh37: 7:45109424-45109424
GRCh38: 7:45069825-45069825
24 CCM2 NM_001029835.2(CCM2):c.1311_1312AG[1] (p.Glu438fs) Microsatellite Pathogenic 585627 rs1562921605 GRCh37: 7:45115569-45115570
GRCh38: 7:45075970-45075971
25 CCM2 NM_031443.3(CCM2):c.30+5_30+6delinsTT Indel Pathogenic 193463 rs797044623 GRCh37: 7:45039967-45039968
GRCh38: 7:45000368-45000369
26 CCM2 NM_001029835.2(CCM2):c.1297dup (p.Arg433fs) Duplication Pathogenic 590645 rs1331484727 GRCh37: 7:45115553-45115554
GRCh38: 7:45075954-45075955
27 CCM2 NM_001029835.2(CCM2):c.118C>T (p.Arg40Ter) SNV Pathogenic 447028 rs755800734 GRCh37: 7:45077876-45077876
GRCh38: 7:45038277-45038277
28 CCM2 NM_031443.3(CCM2):c.30+1G>A SNV Pathogenic 590655 rs1562848479 GRCh37: 7:45039963-45039963
GRCh38: 7:45000364-45000364
29 CCM2 NM_001029835.2(CCM2):c.232A>T (p.Arg78Ter) SNV Pathogenic 590650 rs1562882049 GRCh37: 7:45077990-45077990
GRCh38: 7:45038391-45038391
30 overlap with 3 genes NC_000007.14:g.(?_45027705)_(45086112_?)del Deletion Pathogenic 584080 GRCh37: 7:45067304-45125711
GRCh38: 7:45027705-45086112
31 CCM2 NM_001029835.2(CCM2):c.465_468dup (p.Ile157fs) Duplication Pathogenic 661878 rs1583970495 GRCh37: 7:45104174-45104175
GRCh38: 7:45064575-45064576
32 CCM2 NM_001029835.2(CCM2):c.282_283del (p.Leu94fs) Deletion Pathogenic 570247 rs1562906798 GRCh37: 7:45103531-45103532
GRCh38: 7:45063932-45063933
33 CCM2 NM_031443.4(CCM2):c.472+1G>C SNV Likely pathogenic 974868 GRCh37: 7:45104246-45104246
GRCh38: 7:45064647-45064647
34 CCM2 NM_001029835.2(CCM2):c.698T>C (p.Leu233Pro) SNV Likely pathogenic 468338 rs1554377652 GRCh37: 7:45109450-45109450
GRCh38: 7:45069851-45069851
35 CCM2 NM_001029835.2(CCM2):c.647T>G (p.Leu216Arg) SNV Likely pathogenic 562020 rs1562912426 GRCh37: 7:45108153-45108153
GRCh38: 7:45068554-45068554
36 CCM2 NM_031443.4(CCM2):c.7G>T (p.Glu3Ter) SNV Likely pathogenic 873433 GRCh37: 7:45039939-45039939
GRCh38: 7:45000340-45000340
37 CCM2 NM_001029835.2(CCM2):c.94-2A>G SNV Likely pathogenic 468335 rs1554365507 GRCh37: 7:45077850-45077850
GRCh38: 7:45038251-45038251
38 CCM2 NM_031443.4(CCM2):c.698T>C (p.Ile233Thr) SNV Uncertain significance 848889 GRCh37: 7:45109513-45109513
GRCh38: 7:45069914-45069914
39 CCM2 NM_001029835.2(CCM2):c.491_493del (p.Ser164del) Deletion Uncertain significance 575300 rs1562907973 GRCh37: 7:45104199-45104201
GRCh38: 7:45064600-45064602
40 CCM2 NM_031443.4(CCM2):c.830G>A (p.Gly277Asp) SNV Uncertain significance 1034110 GRCh37: 7:45113085-45113085
GRCh38: 7:45073486-45073486
41 CCM2 NM_001029835.2(CCM2):c.409T>C (p.Ser137Pro) SNV Uncertain significance 569848 rs1562907616 GRCh37: 7:45104119-45104119
GRCh38: 7:45064520-45064520
42 CCM2 NM_001029835.2(CCM2):c.391G>A (p.Asp131Asn) SNV Uncertain significance 650820 rs41280666 GRCh37: 7:45104101-45104101
GRCh38: 7:45064502-45064502
43 CCM2 NM_031443.4(CCM2):c.193_195del (p.Lys65del) Deletion Uncertain significance 949782 GRCh37: 7:45078012-45078014
GRCh38: 7:45038413-45038415
44 CCM2 NM_031443.4(CCM2):c.160G>A (p.Glu54Lys) SNV Uncertain significance 1054801 GRCh37: 7:45077981-45077981
GRCh38: 7:45038382-45038382
45 CCM2 NM_001029835.2(CCM2):c.701T>C (p.Leu234Pro) SNV Uncertain significance 655527 rs1583983649 GRCh37: 7:45109453-45109453
GRCh38: 7:45069854-45069854
46 CCM2 NM_031443.4(CCM2):c.48A>T (p.Pro16=) SNV Likely benign 810940 rs142320735 GRCh37: 7:45077869-45077869
GRCh38: 7:45038270-45038270
47 CCM2 NM_001029835.2(CCM2):c.675C>T (p.Val225=) SNV Likely benign 468337 rs181474100 GRCh37: 7:45109427-45109427
GRCh38: 7:45069828-45069828
48 CCM2 NM_031443.4(CCM2):c.1217C>T (p.Thr406Met) SNV Likely benign 698208 rs150734280 GRCh37: 7:45115538-45115538
GRCh38: 7:45075939-45075939
49 CCM2 NM_001029835.2(CCM2):c.867-5C>T SNV Benign/Likely benign 585628 rs145003686 GRCh37: 7:45113054-45113054
GRCh38: 7:45073455-45073455
50 CCM2 NM_001029835.2(CCM2):c.1323G>A (p.Glu441=) SNV Benign 590646 rs2304691 GRCh37: 7:45115581-45115581
GRCh38: 7:45075982-45075982

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

72
# 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

Sources

Expression for Cerebral Cavernous Malformations 2

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

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

# Super pathways Score Top Affiliating Genes
1
Signal transduction_JNK pathway 23
10.8 MAP4K2 MAP3K3
2
p38 MAPK signaling pathway (Pathway Interaction Database) 1
10.42 MAP3K3 CCM2
3
Regulation of p38-alpha and p38-beta 1
10.05 MAP3K3 CCM2
Sources

GO Terms for Cerebral Cavernous Malformations 2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.61 PDCD10 KRIT1 ITGB1BP1
2 cellular response to drug GO:0035690 9.52 RAP2A RAP1B
3 blood vessel development GO:0001568 9.51 MAP3K3 CCM2
4 response to hydrogen peroxide GO:0042542 9.49 STK25 PDCD10
5 positive regulation of Notch signaling pathway GO:0045747 9.48 PDCD10 ITGB1BP1
6 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.46 PDCD10 ITGB1BP1
7 positive regulation of stress-activated MAPK cascade GO:0032874 9.4 STK25 PDCD10
8 regulation of establishment of cell polarity GO:2000114 9.37 RAP1B KRIT1
9 microvillus assembly GO:0030033 9.32 RAP2A RAP1B
10 Rap protein signal transduction GO:0032486 9.26 RAP2A RAP1B
11 establishment of Golgi localization GO:0051683 9.16 STK25 PDCD10
12 Golgi reassembly GO:0090168 8.96 STK25 PDCD10
13 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

Sources for Cerebral Cavernous Malformations 2

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 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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