COL5A2

Protein identityUniProt · HPA

UniProt accession

P05997

Gene

COL5A2

Ensembl

ENSG00000204262

Chromosome

2

Canonical length

1499 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted secreted proteins

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1499 residues, UniProt reviewed canonical sequence.

>P05997|COL5A2
     1  MMANWAEARP LLILIVLLGQ FVSIKAQEED EDEGYGEEIA CTQNGQMYLN RDIWKPAPCQ
    61  ICVCDNGAIL CDKIECQDVL DCADPVTPPG ECCPVCSQTP GGGNTNFGRG RKGQKGEPGL
   121  VPVVTGIRGR PGPAGPPGSQ GPRGERGPKG RPGPRGPQGI DGEPGVPGQP GAPGPPGHPS
   181  HPGPDGLSRP FSAQMAGLDE KSGLGSQVGL MPGSVGPVGP RGPQGLQGQQ GGAGPTGPPG
   241  EPGDPGPMGP IGSRGPEGPP GKPGEDGEPG RNGNPGEVGF AGSPGARGFP GAPGLPGLKG
   301  HRGHKGLEGP KGEVGAPGSK GEAGPTGPMG AMGPLGPRGM PGERGRLGPQ GAPGQRGAHG
   361  MPGKPGPMGP LGIPGSSGFP GNPGMKGEAG PTGARGPEGP QGQRGETGPP GPVGSPGLPG
   421  AIGTDGTPGA KGPTGSPGTS GPPGSAGPPG SPGPQGSTGP QGIRGQPGDP GVPGFKGEAG
   481  PKGEPGPHGI QGPIGPPGEE GKRGPRGDPG TVGPPGPVGE RGAPGNRGFP GSDGLPGPKG
   541  AQGERGPVGS SGPKGSQGDP GRPGEPGLPG ARGLTGNPGV QGPEGKLGPL GAPGEDGRPG
   601  PPGSIGIRGQ PGSMGLPGPK GSSGDPGKPG EAGNAGVPGQ RGAPGKDGEV GPSGPVGPPG
   661  LAGERGEQGP PGPTGFQGLP GPPGPPGEGG KPGDQGVPGD PGAVGPLGPR GERGNPGERG
   721  EPGITGLPGE KGMAGGHGPD GPKGSPGPSG TPGDTGPPGL QGMPGERGIA GTPGPKGDRG
   781  GIGEKGAEGT AGNDGARGLP GPLGPPGPAG PTGEKGEPGP RGLVGPPGSR GNPGSRGENG
   841  PTGAVGFAGP QGPDGQPGVK GEPGEPGQKG DAGSPGPQGL AGSPGPHGPN GVPGLKGGRG
   901  TQGPPGATGF PGSAGRVGPP GPAGAPGPAG PLGEPGKEGP PGLRGDPGSH GRVGDRGPAG
   961  PPGGPGDKGD PGEDGQPGPD GPPGPAGTTG QRGIVGMPGQ RGERGMPGLP GPAGTPGKVG
  1021  PTGATGDKGP PGPVGPPGSN GPVGEPGPEG PAGNDGTPGR DGAVGERGDR GDPGPAGLPG
  1081  SQGAPGTPGP VGAPGDAGQR GDPGSRGPIG PPGRAGKRGL PGPQGPRGDK GDHGDRGDRG
  1141  QKGHRGFTGL QGLPGPPGPN GEQGSAGIPG PFGPRGPPGP VGPSGKEGNP GPLGPIGPPG
  1201  VRGSVGEAGP EGPPGEPGPP GPPGPPGHLT AALGDIMGHY DESMPDPLPE FTEDQAAPDD
  1261  KNKTDPGVHA TLKSLSSQIE TMRSPDGSKK HPARTCDDLK LCHSAKQSGE YWIDPNQGSV
  1321  EDAIKVYCNM ETGETCISAN PSSVPRKTWW ASKSPDNKPV WYGLDMNRGS QFAYGDHQSP
  1381  NTAITQMTFL RLLSKEASQN ITYICKNSVG YMDDQAKNLK KAVVLKGAND LDIKAEGNIR
  1441  FRYIVLQDTC SKRNGNVGKT VFEYRTQNVA RLPIIDLAPV DVGGTDQEFG VEIGPVCFV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL5A2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Secreted

Secreted

Yes

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.65

Highest tissue expression

105 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL5A2.

Disease | AllUniProt

Conditions COL5A2 is implicated in, by any mechanism.

• Ehlers-Danlos syndrome, classic type, 2 (EDSCL2) MIM:130010

Disease | GeneticClinVar

66 pathogenic / likely-pathogenic of 2,385 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Ehlers-Danlos syndrome, classic type, 1
• Ehlers-Danlos syndrome, classic type, 2
• Ehlers-Danlos syndrome, classic type
• COL5A2-related disorder
• Familial thoracic aortic aneurysm and aortic dissection

Disease | ImmuneIEDB

Conditions an epitope on COL5A2 was assayed in.

• bronchiolitis obliterans T cell
• rheumatoid arthritis B cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.1

gnomAD pLI

1

gnomAD missense Z

2.44

DepMap mean gene effect

-0.05

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• cellular response to amino acid stimulus
• collagen fibril organization
• eye morphogenesis
• negative regulation of endodermal cell differentiation
• skeletal system development
• skin development

Molecular functions

• extracellular matrix structural constituent conferring tensile strength
• metal ion binding
• SMAD binding

Cellular components

• collagen type V trimer
• collagen type XI trimer
• endoplasmic reticulum lumen
• extracellular matrix
• extracellular region

Protein domainsUniProt · Pfam · InterPro

• Fibrillar collagen, C-terminal
• VWFC domain
• Collagen triple helix repeat
• Collagen superfamily
• von Willebrand factor type C domain
• Collagen triple helix repeat (20 copies)
• Fibrillar collagen C-terminal domain

KeywordsUniProt

• Calcium
• Collagen
• Disulfide bond
• Ehlers-Danlos syndrome
• Extracellular matrix
• Glycoprotein
• Hydroxylation
• Metal-binding
• Repeat
• Secreted
• Signal