Seroatlas · Human Serome Atlas

COL11A2

Collagen alpha-2(XI) chain

Also known as: COBA2_HUMAN, DFNA13, DFNB53, HKE5

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P13942
Gene
COL11A2
Ensembl
ENSG00000204248
Chromosome
6
Canonical length
1736 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 one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]

Canonical amino-acid sequenceUniProt

1736 residues, UniProt reviewed canonical sequence.

>P13942|COL11A2
     1  MERCSRCHRL LLLLPLVLGL SAAPGWAGAP PVDVLRALRF PSLPDGVRRA KGICPADVAY
    61  RVARPAQLSA PTRQLFPGGF PKDFSLLTVV RTRPGLQAPL LTLYSAQGVR QLGLELGRPV
   121  RFLYEDQTGR PQPPSQPVFR GLSLADGKWH RVAVAVKGQS VTLIVDCKKR VTRPLPRSAR
   181  PVLDTHGVII FGARILDEEV FEGDVQELAI VPGVQAAYES CEQKELECEG GQRERPQNQQ
   241  PHRAQRSPQQ QPSRLHRPQN QEPQSQPTES LYYDYEPPYY DVMTTGTTPD YQDPTPGEEE
   301  EILESSLLPP LEEEQTDLQV PPTADRFQAE EYGEGGTDPP EGPYDYTYGY GDDYREETEL
   361  GPALSAETAH SGAAAHGPRG LKGEKGEPAV LEPGMLVEGP PGPEGPAGLI GPPGIQGNPG
   421  PVGDPGERGP PGRAGLPGSD GAPGPPGTSL MLPFRFGSGG GDKGPVVAAQ EAQAQAILQQ
   481  ARLALRGPPG PMGYTGRPGP LGQPGSPGLK GESGDLGPQG PRGPQGLTGP PGKAGRRGRA
   541  GADGARGMPG DPGVKGDRGF DGLPGLPGEK GHRGDTGAQG LPGPPGEDGE RGDDGEIGPR
   601  GLPGESGPRG LLGPKGPPGI PGPPGVRGMD GPQGPKGSLG PQGEPGPPGQ QGTPGTQGLP
   661  GPQGAIGPHG EKGPQGKPGL PGMPGSDGPP GHPGKEGPPG TKGNQGPSGP QGPLGYPGPR
   721  GVKGVDGIRG LKGHKGEKGE DGFPGFKGDI GVKGDRGEVG VPGSRGEDGP EGPKGRTGPT
   781  GDPGPPGLMG EKGKLGVPGL PGYPGRQGPK GSLGFPGFPG ASGEKGARGL SGKSGPRGER
   841  GPTGPRGQRG PRGATGKSGA KGTSGGDGPH GPPGERGLPG PQGPNGFPGP KGPLGPPGKD
   901  GLPGHPGQRG EVGFQGKTGP PGPPGVVGPQ GAAGETGPMG ERGHPGPPGP PGEQGLPGTA
   961  GKEGTKGDPG PPGAPGKDGP AGLRGFPGER GLPGTAGGPG LKGNEGPSGP PGPAGSPGER
  1021  GAAGSGGPIG PPGRPGPQGP PGAAGEKGVP GEKGPIGPTG RDGVQGPVGL PGPAGPPGVA
  1081  GEDGDKGEVG DPGQKGTKGN KGEHGPPGPP GPIGPVGQPG AAGADGEPGA RGPQGHFGAK
  1141  GDEGTRGFNG PPGPIGLQGL PGPSGEKGET GDVGPMGPPG PPGPRGPAGP NGADGPQGPP
  1201  GGVGNLGPPG EKGEPGESGS PGIQGEPGVK GPRGERGEKG ESGQPGEPGP PGPKGPTGDD
  1261  GPKGNPGPVG FPGDPGPPGE GGPRGQDGAK GDRGEDGEPG QPGSPGPTGE NGPPGPLGKR
  1321  GPAGSPGSEG RQGGKGAKGD PGAIGAPGKT GPVGPAGPAG KPGPDGLRGL PGSVGQQGRP
  1381  GATGQAGPPG PVGPPGLPGL RGDAGAKGEK GHPGLIGLIG PPGEQGEKGD RGLPGPQGSP
  1441  GQKGEMGIPG ASGPIGPGGP PGLPGPAGPK GAKGATGPGG PKGEKGVQGP PGHPGPPGEV
  1501  IQPLPIQMPK KTRRSVDGSR LMQEDEAIPT GGAPGSPGGL EEIFGSLDSL REEIEQMRRP
  1561  TGTQDSPART CQDLKLCHPE LPDGEYWVDP NQGCARDAFR VFCNFTAGGE TCVTPRDDVT
  1621  QFSYVDSEGS PVGVVQLTFL RLLSVSAHQD VSYPCSGAAR DGPLRLRGAN EDELSPETSP
  1681  YVKEFRDGCQ TQQGRTVLEV RTPVLEQLPV LDASFSDLGA PPRRGGVLLG PVCFMG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL11A2 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)
0.63
Highest tissue expression
22 nTPM

Expression across tissuesHPA

Tissue

  • pituitary gland: 22 nTPM
  • cerebellum: 14 nTPM
  • spinal cord: 8.1 nTPM
  • testis: 7.6 nTPM
  • midbrain: 4.4 nTPM
  • basal ganglia: 4.2 nTPM

Single-cell type

  • pituitary stem cells: 9.7 nCPM
  • oligodendrocyte progenitor cells: 7.4 nCPM
  • oligodendrocytes: 7 nCPM
  • astrocytes: 6 nCPM
  • brain excitatory neurons: 5.5 nCPM
  • brain inhibitory neurons: 5.5 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • white matter: 1.4 nTPM
  • medulla oblongata: 1.1 nTPM
  • pons: 1.1 nTPM
  • basal ganglia: 1 nTPM
  • cerebral cortex: 1 nTPM
  • thalamus: 1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL11A2.

Disease | AllUniProt

Conditions COL11A2 is implicated in, by any mechanism.

  • Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA) MIM:184840
  • Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB) MIM:215150
  • Deafness, autosomal dominant, 13 (DFNA13) MIM:601868
  • Deafness, autosomal recessive, 53 (DFNB53) MIM:609706
  • Fibrochondrogenesis 2 (FBCG2) MIM:614524

Disease | GeneticClinVar

198 pathogenic / likely-pathogenic of 3,172 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Otospondylomegaepiphyseal dysplasia, autosomal recessive
  • Autosomal recessive nonsyndromic hearing loss 53
  • Otospondylomegaepiphyseal dysplasia, autosomal dominant
  • Autosomal dominant nonsyndromic hearing loss 13
  • Fibrochondrogenesis 2

Disease | ImmuneIEDB

Conditions an epitope on COL11A2 was assayed in.

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)
0.31
gnomAD pLI
0.7
gnomAD missense Z
2.37
DepMap mean gene effect
-0.08
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads COL11A2 as an antibody target. Whether an autoantibody or antibody against COL11A2 could matter depends on whether native COL11A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

COL11A2 is annotated as secreted, so native COL11A2 circulates and is directly accessible to antibodies. Secreted and cell-surface proteins are the autoantibody targets most likely to act like drugs, blocking or depleting the native protein.

Annotation status

The present source text does not explicitly label COL11A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/COL11A2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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