COL1A2

Protein identityUniProt · HPA

UniProt accession

P08123

Gene

COL1A2

Ensembl

ENSG00000164692

Chromosome

7

Canonical length

1366 aa

Protein class

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

Subcellular location

Endoplasmic reticulum

Secretome location

Secreted to extracellular matrix

OverviewNCBI Gene

This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]

Canonical amino-acid sequenceUniProt

1366 residues, UniProt reviewed canonical sequence.

>P08123|COL1A2
     1  MLSFVDTRTL LLLAVTLCLA TCQSLQEETV RKGPAGDRGP RGERGPPGPP GRDGEDGPTG
    61  PPGPPGPPGP PGLGGNFAAQ YDGKGVGLGP GPMGLMGPRG PPGAAGAPGP QGFQGPAGEP
   121  GEPGQTGPAG ARGPAGPPGK AGEDGHPGKP GRPGERGVVG PQGARGFPGT PGLPGFKGIR
   181  GHNGLDGLKG QPGAPGVKGE PGAPGENGTP GQTGARGLPG ERGRVGAPGP AGARGSDGSV
   241  GPVGPAGPIG SAGPPGFPGA PGPKGEIGAV GNAGPAGPAG PRGEVGLPGL SGPVGPPGNP
   301  GANGLTGAKG AAGLPGVAGA PGLPGPRGIP GPVGAAGATG ARGLVGEPGP AGSKGESGNK
   361  GEPGSAGPQG PPGPSGEEGK RGPNGEAGSA GPPGPPGLRG SPGSRGLPGA DGRAGVMGPP
   421  GSRGASGPAG VRGPNGDAGR PGEPGLMGPR GLPGSPGNIG PAGKEGPVGL PGIDGRPGPI
   481  GPAGARGEPG NIGFPGPKGP TGDPGKNGDK GHAGLAGARG APGPDGNNGA QGPPGPQGVQ
   541  GGKGEQGPPG PPGFQGLPGP SGPAGEVGKP GERGLHGEFG LPGPAGPRGE RGPPGESGAA
   601  GPTGPIGSRG PSGPPGPDGN KGEPGVVGAV GTAGPSGPSG LPGERGAAGI PGGKGEKGEP
   661  GLRGEIGNPG RDGARGAPGA VGAPGPAGAT GDRGEAGAAG PAGPAGPRGS PGERGEVGPA
   721  GPNGFAGPAG AAGQPGAKGE RGAKGPKGEN GVVGPTGPVG AAGPAGPNGP PGPAGSRGDG
   781  GPPGMTGFPG AAGRTGPPGP SGISGPPGPP GPAGKEGLRG PRGDQGPVGR TGEVGAVGPP
   841  GFAGEKGPSG EAGTAGPPGT PGPQGLLGAP GILGLPGSRG ERGLPGVAGA VGEPGPLGIA
   901  GPPGARGPPG AVGSPGVNGA PGEAGRDGNP GNDGPPGRDG QPGHKGERGY PGNIGPVGAA
   961  GAPGPHGPVG PAGKHGNRGE TGPSGPVGPA GAVGPRGPSG PQGIRGDKGE PGEKGPRGLP
  1021  GLKGHNGLQG LPGIAGHHGD QGAPGSVGPA GPRGPAGPSG PAGKDGRTGH PGTVGPAGIR
  1081  GPQGHQGPAG PPGPPGPPGP PGVSGGGYDF GYDGDFYRAD QPRSAPSLRP KDYEVDATLK
  1141  SLNNQIETLL TPEGSRKNPA RTCRDLRLSH PEWSSGYYWI DPNQGCTMDA IKVYCDFSTG
  1201  ETCIRAQPEN IPAKNWYRSS KDKKHVWLGE TINAGSQFEY NVEGVTSKEM ATQLAFMRLL
  1261  ANYASQNITY HCKNSIAYMD EETGNLKKAV ILQGSNDVEL VAEGNSRFTY TVLVDGCSKK
  1321  TNEWGKTIIE YKTNKPSRLP FLDIAPLDIG GADQEFFVDI GPVCFK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL1A2 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

1,633 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL1A2.

Disease | AllUniProt

Conditions COL1A2 is implicated in, by any mechanism.

• Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2) MIM:617821
• Osteogenesis imperfecta 1 (OI1) MIM:166200
• Osteogenesis imperfecta 2 (OI2) MIM:166210
• Ehlers-Danlos syndrome, cardiac valvular type (EDSCV) MIM:225320
• Osteogenesis imperfecta 3 (OI3) MIM:259420
• Osteogenesis imperfecta 4 (OI4) MIM:166220
• Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OIEDS2) MIM:619120

Disease | GeneticClinVar

739 pathogenic / likely-pathogenic of 2,779 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Osteogenesis imperfecta type I
• Ehlers-Danlos syndrome, classic type, 1
• Osteogenesis imperfecta with normal sclerae, dominant form
• Osteogenesis imperfecta, perinatal lethal
• Osteogenesis imperfecta

Disease | ImmuneIEDB

Conditions an epitope on COL1A2 was assayed in.

• 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)

0.2

gnomAD pLI

1

gnomAD missense Z

2.15

DepMap mean gene effect

0.02

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

• blood vessel development
• bone mineralization
• cellular response to amino acid stimulus
• collagen fibril organization
• collagen metabolic process
• extracellular matrix assembly
• odontogenesis
• regulation of blood pressure
• Rho protein signal transduction
• skeletal system development
• skin morphogenesis
• transforming growth factor beta receptor signaling pathway
• protein heterotrimerization

Molecular functions

• extracellular matrix structural constituent
• extracellular matrix structural constituent conferring tensile strength
• identical protein binding
• metal ion binding
• platelet-derived growth factor binding
• protease binding
• protein-macromolecule adaptor activity
• SMAD binding

Cellular components

• collagen type I trimer
• endoplasmic reticulum lumen
• extracellular exosome
• extracellular matrix
• extracellular region
• extracellular space

Protein domainsUniProt · Pfam · InterPro

• Fibrillar collagen, C-terminal
• Collagen triple helix repeat
• Collagen superfamily
• Collagen triple helix repeat (20 copies)
• Fibrillar collagen C-terminal domain

KeywordsUniProt

• Calcium
• Chromosomal rearrangement
• Collagen
• Disulfide bond
• Dwarfism
• Ehlers-Danlos syndrome
• Extracellular matrix
• Glycoprotein
• Hydroxylation
• Metal-binding
• Osteogenesis imperfecta
• Pyrrolidone carboxylic acid
• Repeat
• Secreted
• Signal

InteractionsUniProt · HPA

Protein binding partners of COL1A2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• COL1A1
• KCNIP4
• UBQLN2