COL6A2

Protein identityUniProt · HPA

UniProt accession

P12110

Gene

COL6A2

Ensembl

ENSG00000142173

Chromosome

21

Canonical length

1019 aa

Protein class

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

Subcellular location

Plasma membrane,Cytosol

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

1019 residues, UniProt reviewed canonical sequence.

>P12110|COL6A2
     1  MLQGTCSVLL LWGILGAIQA QQQEVISPDT TERNNNCPEK TDCPIHVYFV LDTSESVTMQ
    61  SPTDILLFHM KQFVPQFISQ LQNEFYLDQV ALSWRYGGLH FSDQVEVFSP PGSDRASFIK
   121  NLQGISSFRR GTFTDCALAN MTEQIRQDRS KGTVHFAVVI TDGHVTGSPC GGIKLQAERA
   181  REEGIRLFAV APNQNLKEQG LRDIASTPHE LYRNDYATML PDSTEIDQDT INRIIKVMKH
   241  EAYGECYKVS CLEIPGPSGP KGYRGQKGAK GNMGEPGEPG QKGRQGDPGI EGPIGFPGPK
   301  GVPGFKGEKG EFGADGRKGA PGLAGKNGTD GQKGKLGRIG PPGCKGDPGN RGPDGYPGEA
   361  GSPGERGDQG GKGDPGRPGR RGPPGEIGAK GSKGYQGNSG APGSPGVKGA KGGPGPRGPK
   421  GEPGRRGDPG TKGSPGSDGP KGEKGDPGPE GPRGLAGEVG NKGAKGDRGL PGPRGPQGAL
   481  GEPGKQGSRG DPGDAGPRGD SGQPGPKGDP GRPGFSYPGP RGAPGEKGEP GPRGPEGGRG
   541  DFGLKGEPGR KGEKGEPADP GPPGEPGPRG PRGVPGPEGE PGPPGDPGLT ECDVMTYVRE
   601  TCGCCDCEKR CGALDVVFVI DSSESIGYTN FTLEKNFVIN VVNRLGAIAK DPKSETGTRV
   661  GVVQYSHEGT FEAIQLDDER IDSLSSFKEA VKNLEWIAGG TWTPSALKFA YDRLIKESRR
   721  QKTRVFAVVI TDGRHDPRDD DLNLRALCDR DVTVTAIGIG DMFHEKHESE NLYSIACDKP
   781  QQVRNMTLFS DLVAEKFIDD MEDVLCPDPQ IVCPDLPCQT ELSVAQCTQR PVDIVFLLDG
   841  SERLGEQNFH KARRFVEQVA RRLTLARRDD DPLNARVALL QFGGPGEQQV AFPLSHNLTA
   901  IHEALETTQY LNSFSHVGAG VVHAINAIVR SPRGGARRHA ELSFVFLTDG VTGNDSLHES
   961  AHSMRKQNVV PTVLALGSDV DMDVLTTLSL GDRAAVFHEK DYDSLAQPGF FDRFIRWIC

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL6A2 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)

0.43

Highest tissue expression

1,244 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL6A2.

Disease | AllUniProt

Conditions COL6A2 is implicated in, by any mechanism.

• Bethlem myopathy 1B (BTHLM1B) MIM:620725
• Ullrich congenital muscular dystrophy 1B (UCMD1B) MIM:620727
• Myosclerosis autosomal recessive (MYOSAR) MIM:255600

Disease | GeneticClinVar

268 pathogenic / likely-pathogenic of 2,367 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Bethlem myopathy 1A
• Ullrich congenital muscular dystrophy 1B
• Ullrich congenital muscular dystrophy 1A
• Bethlem myopathy 1B
• COL6A2-related disorder

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)

0.58

gnomAD pLI

0

gnomAD missense Z

-1.15

DepMap mean gene effect

0.11

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

• cell adhesion
• neuron apoptotic process
• phosphatidylinositol 3-kinase/protein kinase B signal transduction
• response to glucose
• response to UV

Molecular functions

• collagen binding
• extracellular matrix structural constituent conferring tensile strength

Cellular components

• collagen type VI trimer
• endoplasmic reticulum lumen
• extracellular exosome
• extracellular matrix
• extracellular region
• extracellular space
• extracellular vesicle
• protein-containing complex
• sarcolemma

Protein domainsUniProt · Pfam · InterPro

• von Willebrand factor, type A
• Collagen triple helix repeat
• von Willebrand factor A-like domain superfamily
• von Willebrand factor type A domain
• Collagen triple helix repeat (20 copies)
• Collagen VI and Biomineralization Protein PIF

KeywordsUniProt

• Cell adhesion
• Collagen
• Congenital muscular dystrophy
• Extracellular matrix
• Glycoprotein
• Hydroxylation
• Membrane
• Phosphoprotein
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of COL6A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CSPG4