Entity Details

Primary name CO5A2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP05997
EntryNameCO5A2_HUMAN
FullNameCollagen alpha-2(V) chain
TaxID9606
Evidenceevidence at protein level
Length1499
SequenceStatuscomplete
DateCreated1988-04-01
DateModified2021-06-02

Ontological Relatives

GenesCOL5A2

GO terms

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GOName
GO:0001501 skeletal system development
GO:0001503 ossification
GO:0005201 extracellular matrix structural constituent
GO:0005576 extracellular region
GO:0005588 collagen type V trimer
GO:0005615 extracellular space
GO:0005788 endoplasmic reticulum lumen
GO:0030020 extracellular matrix structural constituent conferring tensile strength
GO:0030198 extracellular matrix organization
GO:0030199 collagen fibril organization
GO:0031012 extracellular matrix
GO:0043588 skin development
GO:0046332 SMAD binding
GO:0046872 metal ion binding
GO:0048592 eye morphogenesis
GO:0062023 collagen-containing extracellular matrix
GO:0071230 cellular response to amino acid stimulus
GO:1903225 negative regulation of endodermal cell differentiation

Subcellular Location

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Subcellular Location
Secreted

Domains

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DomainNameCategoryType
IPR000885 Fibrillar collagen, C-terminalDomainDomain
IPR001007 VWFC domainDomainDomain
IPR008160 Collagen triple helix repeatRepeatRepeat

Diseases

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Disease IDSourceNameDescription
130010 OMIMEhlers-Danlos syndrome, classic type, 2 (EDSCL2)A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. EDSCL2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
CO5A2_HUMANBMP1_HUMANHPRD11741999 details
CO5A2_HUMANDDR1_HUMANHPRD9659900 details