COL4A2

Protein identityUniProt · HPA

UniProt accession

P08572

Gene

COL4A2

Ensembl

ENSG00000134871

Chromosome

13

Canonical length

1712 aa

Protein class

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

Subcellular location

Vesicles

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor growth. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1712 residues, UniProt reviewed canonical sequence.

>P08572|COL4A2
     1  MGRDQRAVAG PALRRWLLLG TVTVGFLAQS VLAGVKKFDV PCGGRDCSGG CQCYPEKGGR
    61  GQPGPVGPQG YNGPPGLQGF PGLQGRKGDK GERGAPGVTG PKGDVGARGV SGFPGADGIP
   121  GHPGQGGPRG RPGYDGCNGT QGDSGPQGPP GSEGFTGPPG PQGPKGQKGE PYALPKEERD
   181  RYRGEPGEPG LVGFQGPPGR PGHVGQMGPV GAPGRPGPPG PPGPKGQQGN RGLGFYGVKG
   241  EKGDVGQPGP NGIPSDTLHP IIAPTGVTFH PDQYKGEKGS EGEPGIRGIS LKGEEGIMGF
   301  PGLRGYPGLS GEKGSPGQKG SRGLDGYQGP DGPRGPKGEA GDPGPPGLPA YSPHPSLAKG
   361  ARGDPGFPGA QGEPGSQGEP GDPGLPGPPG LSIGDGDQRR GLPGEMGPKG FIGDPGIPAL
   421  YGGPPGPDGK RGPPGPPGLP GPPGPDGFLF GLKGAKGRAG FPGLPGSPGA RGPKGWKGDA
   481  GECRCTEGDE AIKGLPGLPG PKGFAGINGE PGRKGDRGDP GQHGLPGFPG LKGVPGNIGA
   541  PGPKGAKGDS RTITTKGERG QPGVPGVPGM KGDDGSPGRD GLDGFPGLPG PPGDGIKGPP
   601  GDPGYPGIPG TKGTPGEMGP PGLGLPGLKG QRGFPGDAGL PGPPGFLGPP GPAGTPGQID
   661  CDTDVKRAVG GDRQEAIQPG CIGGPKGLPG LPGPPGPTGA KGLRGIPGFA GADGGPGPRG
   721  LPGDAGREGF PGPPGFIGPR GSKGAVGLPG PDGSPGPIGL PGPDGPPGER GLPGEVLGAQ
   781  PGPRGDAGVP GQPGLKGLPG DRGPPGFRGS QGMPGMPGLK GQPGLPGPSG QPGLYGPPGL
   841  HGFPGAPGQE GPLGLPGIPG REGLPGDRGD PGDTGAPGPV GMKGLSGDRG DAGFTGEQGH
   901  PGSPGFKGID GMPGTPGLKG DRGSPGMDGF QGMPGLKGRP GFPGSKGEAG FFGIPGLKGL
   961  AGEPGFKGSR GDPGPPGPPP VILPGMKDIK GEKGDEGPMG LKGYLGAKGI QGMPGIPGLS
  1021  GIPGLPGRPG HIKGVKGDIG VPGIPGLPGF PGVAGPPGIT GFPGFIGSRG DKGAPGRAGL
  1081  YGEIGATGDF GDIGDTINLP GRPGLKGERG TTGIPGLKGF FGEKGTEGDI GFPGITGVTG
  1141  VQGPPGLKGQ TGFPGLTGPP GSQGELGRIG LPGGKGDDGW PGAPGLPGFP GLRGIRGLHG
  1201  LPGTKGFPGS PGSDIHGDPG FPGPPGERGD PGEANTLPGP VGVPGQKGDQ GAPGERGPPG
  1261  SPGLQGFPGI TPPSNISGAP GDKGAPGIFG LKGYRGPPGP PGSAALPGSK GDTGNPGAPG
  1321  TPGTKGWAGD SGPQGRPGVF GLPGEKGPRG EQGFMGNTGP TGAVGDRGPK GPKGDPGFPG
  1381  APGTVGAPGI AGIPQKIAVQ PGTVGPQGRR GPPGAPGEMG PQGPPGEPGF RGAPGKAGPQ
  1441  GRGGVSAVPG FRGDEGPIGH QGPIGQEGAP GRPGSPGLPG MPGRSVSIGY LLVKHSQTDQ
  1501  EPMCPVGMNK LWSGYSLLYF EGQEKAHNQD LGLAGSCLAR FSTMPFLYCN PGDVCYYASR
  1561  NDKSYWLSTT APLPMMPVAE DEIKPYISRC SVCEAPAIAI AVHSQDVSIP HCPAGWRSLW
  1621  IGYSFLMHTA AGDEGGGQSL VSPGSCLEDF RATPFIECNG GRGTCHYYAN KYSFWLTTIP
  1681  EQSFQGSPSA DTLKAGLIRT HISRCQVCMK NL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL4A2 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)

0.67

Highest tissue expression

446 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL4A2.

Disease | AllUniProt

Conditions COL4A2 is implicated in, by any mechanism.

• Brain small vessel disease 2 (BSVD2) MIM:614483
• Intracerebral hemorrhage (ICH) MIM:614519

Disease | GeneticClinVar

86 pathogenic / likely-pathogenic of 1,843 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Brain small vessel disease 2A, autosomal dominant
• Cerebral palsy
• COL4A2-related disorder
• Intellectual disability
• Intraventricular hemorrhage

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)

0.59

gnomAD pLI

0

gnomAD missense Z

2.19

DepMap mean gene effect

0.03

DepMap dependency class

none

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

• angiogenesis
• cellular response to transforming growth factor beta stimulus
• collagen fibril organization
• collagen-activated tyrosine kinase receptor signaling pathway
• DNA-templated transcription
• endodermal cell differentiation
• extracellular matrix organization
• negative regulation of angiogenesis
• response to activity

Molecular functions

• extracellular matrix structural constituent
• extracellular matrix structural constituent conferring tensile strength
• molecular adaptor activity

Cellular components

• collagen type IV trimer
• endoplasmic reticulum lumen
• extracellular exosome
• extracellular matrix
• extracellular region

Protein domainsUniProt · Pfam · InterPro

• Collagen IV, non-collagenous
• Collagen triple helix repeat
• C-type lectin fold
• Collagen IV, non-collagenous domain superfamily
• Collagen superfamily
• Collagen triple helix repeat (20 copies)
• C-terminal tandem repeated domain in type 4 procollagen

KeywordsUniProt

• Angiogenesis
• Basement membrane
• Collagen
• Disulfide bond
• Extracellular matrix
• Glycoprotein
• Hydroxylation
• Repeat
• Secreted
• Signal
• Bromination

InteractionsUniProt · HPA

Protein binding partners of COL4A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• EFEMP2