Entity Details

Primary name CCM2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BSQ5
EntryNameCCM2_HUMAN
FullNameCerebral cavernous malformations 2 protein
TaxID9606
Evidenceevidence at protein level
Length444
SequenceStatuscomplete
DateCreated2005-10-11
DateModified2021-06-02

Ontological Relatives

GenesCCM2

GO terms

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GOName
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001885 endothelial cell development
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0007229 integrin-mediated signaling pathway
GO:0032991 protein-containing complex
GO:0035264 multicellular organism growth
GO:0045216 cell-cell junction organization
GO:0048839 inner ear development
GO:0048845 venous blood vessel morphogenesis
GO:0051403 stress-activated MAPK cascade
GO:0060039 pericardium development
GO:0060837 blood vessel endothelial cell differentiation
GO:0061154 endothelial tube morphogenesis

Subcellular Location

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Subcellular Location
Cytoplasm

Domains

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DomainNameCategoryType
IPR006020 PTB/PI domainDomainDomain
IPR026159 Cerebral cavernous malformations 2FamilyFamily
IPR032375 Cerebral cavernous malformations 2, harmonin-homology domainDomainDomain

Diseases

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Disease IDSourceNameDescription
603284 OMIMCerebral cavernous malformations 2 (CCM2)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. The disease is caused by variants affecting the gene represented in this entry.