Entity Details

Primary name CO4A2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP08572
EntryNameCO4A2_HUMAN
FullNameCollagen alpha-2(IV) chain
TaxID9606
Evidenceevidence at protein level
Length1712
SequenceStatuscomplete
DateCreated1988-08-01
DateModified2021-06-02

Ontological Relatives

GenesCOL4A2

GO terms

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GOName
GO:0001525 angiogenesis
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005587 collagen type IV trimer
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0006351 transcription, DNA-templated
GO:0007568 aging
GO:0014823 response to activity
GO:0016525 negative regulation of angiogenesis
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0031012 extracellular matrix
GO:0035987 endodermal cell differentiation
GO:0038063 collagen-activated tyrosine kinase receptor signaling pathway
GO:0062023 collagen-containing extracellular matrix
GO:0070062 extracellular exosome
GO:0071560 cellular response to transforming growth factor beta stimulus

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR001442 Collagen IV, non-collagenousDomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat
IPR016187 C-type lectin foldFamilyHomologous superfamily
IPR036954 Collagen IV, non-collagenous domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
614483 OMIMBrain small vessel disease 2 (BSVD2)An autosomal dominant cerebrovascular disorder with variable manifestations reflecting the location and severity of the vascular defect. BSVD2 features include intracranial hemorrage, fluid-filled cysts or cavities within the cerebral hemispheres, delayed psychomotor development, hemiplegia, spasticity and seizures. The disease is caused by variants affecting the gene represented in this entry.
614519 OMIMIntracerebral hemorrhage (ICH)A pathological condition characterized by bleeding into one or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. Disease susceptibility is associated with variants affecting the gene represented in this entry.