Entity Details

Primary name CO8A2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP25067
EntryNameCO8A2_HUMAN
FullNameCollagen alpha-2(VIII) chain
TaxID9606
Evidenceevidence at protein level
Length703
SequenceStatuscomplete
DateCreated1992-05-01
DateModified2021-06-02

Ontological Relatives

GenesCOL8A2

GO terms

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GOName
GO:0001525 angiogenesis
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005581 collagen trimer
GO:0005604 basement membrane
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0030674 protein-macromolecule adaptor activity
GO:0031012 extracellular matrix
GO:0048593 camera-type eye morphogenesis
GO:0050673 epithelial cell proliferation
GO:0062023 collagen-containing extracellular matrix
GO:0098609 cell-cell adhesion

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR001073 C1q domainDomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat
IPR008983 Tumour necrosis factor-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
609140 OMIMCorneal dystrophy, posterior polymorphous, 2 (PPCD2)A rare mild subtype of posterior corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic. The disease is caused by variants affecting the gene represented in this entry.
136800 OMIMCorneal dystrophy, Fuchs endothelial, 1 (FECD1)A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. The disease is caused by variants affecting the gene represented in this entry.