Seroatlas · Human Serome Atlas

COL8A2

Collagen alpha-2(VIII) chain

Also known as: CO8A2_HUMAN, FECD, FECD1, PPCD, PPCD2

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

Protein identityUniProt · HPA

UniProt accession
P25067
Gene
COL8A2
Ensembl
ENSG00000171812
Chromosome
1
Canonical length
703 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted secreted proteins
Subcellular location
Golgi apparatus
Secretome location
Secreted to extracellular matrix
Quaternary structure
Homotrimer

OverviewNCBI Gene

This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Canonical amino-acid sequenceUniProt

703 residues, UniProt reviewed canonical sequence.

>P25067|COL8A2
     1  MLGTLTPLSS LLLLLLVLVL GCGPRASSGG GAGGAAGYAP VKYIQPMQKG PVGPPFREGK
    61  GQYLEMPLPL LPMDLKGEPG PPGKPGPRGP PGPPGFPGKP GMGKPGLHGQ PGPAGPPGFS
   121  RMGKAGPPGL PGKVGPPGQP GLRGEPGIRG DQGLRGPPGP PGLPGPSGIT IPGKPGAQGV
   181  PGPPGFQGEP GPQGEPGPPG DRGLKGDNGV GQPGLPGAPG QGGAPGPPGL PGPAGLGKPG
   241  LDGLPGAPGD KGESGPPGVP GPRGEPGAVG PKGPPGVDGV GVPGAAGLPG PQGPSGAKGE
   301  PGTRGPPGLI GPTGYGMPGL PGPKGDRGPA GVPGLLGDRG EPGEDGEPGE QGPQGLGGPP
   361  GLPGSAGLPG RRGPPGPKGE AGPGGPPGVP GIRGDQGPSG LAGKPGVPGE RGLPGAHGPP
   421  GPTGPKGEPG FTGRPGGPGV AGALGQKGDL GLPGQPGLRG PSGIPGLQGP AGPIGPQGLP
   481  GLKGEPGLPG PPGEGRAGEP GTAGPTGPPG VPGSPGITGP PGPPGPPGPP GAPGAFDETG
   541  IAGLHLPNGG VEGAVLGKGG KPQFGLGELS AHATPAFTAV LTSPFPASGM PVKFDRTLYN
   601  GHSGYNPATG IFTCPVGGVY YFAYHVHVKG TNVWVALYKN NVPATYTYDE YKKGYLDQAS
   661  GGAVLQLRPN DQVWVQMPSD QANGLYSTEY IHSSFSGFLL CPT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against COL8A2 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
37 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 37 nTPM
  • choroid plexus: 19 nTPM
  • placenta: 12 nTPM
  • urinary bladder: 12 nTPM
  • seminal vesicle: 11 nTPM
  • stomach: 8.6 nTPM

Single-cell type

  • retinal pigment epithelial cells: 73 nCPM
  • breast myoepithelial cells: 38 nCPM
  • microglia: 26 nCPM
  • choroid plexus epithelial cells: 21 nCPM
  • salivary myoepithelial cells: 21 nCPM
  • fibroblasts: 14 nCPM

Immune cell

  • myeloid DC: 0.7 nTPM
  • plasmacytoid DC: 0.6 nTPM
  • classical monocyte: 0.2 nTPM
  • intermediate monocyte: 0.2 nTPM
  • basophil: 0 nTPM
  • eosinophil: 0 nTPM

Brain region

  • choroid plexus: 37 nTPM
  • medulla oblongata: 18 nTPM
  • cerebellum: 11 nTPM
  • spinal cord: 11 nTPM
  • white matter: 10 nTPM
  • pons: 9.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about COL8A2.

Disease | AllUniProt

Conditions COL8A2 is implicated in, by any mechanism.

  • Corneal dystrophy, Fuchs endothelial, 1 (FECD1) MIM:136800
  • Corneal dystrophy, posterior polymorphous, 2 (PPCD2) MIM:609140

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 197 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Corneal dystrophy, Fuchs endothelial, 1
  • Posterior polymorphous corneal dystrophy 2

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)
0.66
gnomAD pLI
0.12
gnomAD missense Z
1.57
DepMap mean gene effect
0
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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 COL8A2 as an antibody target. Whether an autoantibody or antibody against COL8A2 could matter depends on whether native COL8A2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

COL8A2 is annotated as secreted, so native COL8A2 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 COL8A2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/COL8A2. 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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