COL8A2 collagen type VIII alpha 2 chain
Gene ID: 1296, updated on 2-Nov-2024Gene type: protein coding
Also known as: FECD; PPCD; FECD1; PPCD2
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- Go to complete Gene record for COL8A2
- Go to Variation Viewer for COL8A2 variants
Summary
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]
Associated conditions
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| Description | Tests |
|---|---|
| Corneal dystrophy, Fuchs endothelial, 1 | See labs |
| Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. GeneReviews: Not available | |
| Posterior polymorphous corneal dystrophy 2 | See labs |
Genomic context
- Location:
- 1p34.3
- Sequence:
- Chromosome: 1; NC_000001.11 (36095239..36125222, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL8A2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- COL8A2 database
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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