COL2A1 collagen type II alpha 1 chain
Gene ID: 1280, updated on 3-Nov-2024Gene type: protein coding
Also known as: AOM; ANFH; SEDC; STL1; COL11A3
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- Go to complete Gene record for COL2A1
- Go to Variation Viewer for COL2A1 variants
Summary
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Achondrogenesis type II | not available |
| Avascular necrosis of femoral head, primary, 1 | not available |
| Kniest dysplasia | not available |
| Legg-Calve-Perthes disease | not available |
| Multiple epiphyseal dysplasia, Beighton type | not available |
| Namaqualand hip dysplasia | not available |
| Platyspondylic dysplasia, Torrance type | not available |
| Spondyloepimetaphyseal dysplasia, Strudwick type | not available |
| Spondyloepiphyseal dysplasia congenita | not available |
| Spondyloepiphyseal dysplasia with metatarsal shortening | not available |
| Spondyloepiphyseal dysplasia, Stanescu type | not available |
| Spondylometaphyseal dysplasia - Sutcliffe type | not available |
| Spondyloperipheral dysplasia | not available |
| Stickler syndrome type 1 | not available |
| Stickler syndrome, type I, nonsyndromic ocular | not available |
| Vitreoretinopathy with phalangeal epiphyseal dysplasia | not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2020-07-29) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-29) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 12q13.11
- Sequence:
- Chromosome: 12; NC_000012.12 (47972967..48006212, complement)
- Total number of exons:
- 57
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for COL2A1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- COL2A1 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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