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COL2A1 collagen type II alpha 1 chain

Gene ID: 1280, updated on 25-Jan-2022
Gene type: protein coding
Also known as: AOM; ANFH; SEDC; STL1; COL11A3

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

DescriptionTests
Achondrogenesis type IISee labs
Avascular necrosis of femoral head, primary, 1See labs
Czech dysplasia, metatarsal type
MedGen: C1836683OMIM: 609162GeneReviews: Not available
See labs
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
MedGen: C1851536OMIM: 132450GeneReviews: Not available
See labs
Kniest dysplasiaSee labs
Legg-Calve-Perthes disease
MedGen: C0023234OMIM: 150600GeneReviews: Not available
See labs
Namaqualand hip dysplasiaSee labs
Platyspondylic dysplasia, Torrance typeSee labs
Spondyloepimetaphyseal dysplasia, Strudwick typeSee labs
Spondyloepiphyseal dysplasia congenitaSee labs
Spondyloepiphyseal dysplasia, stanescu type
MedGen: C4225273OMIM: 616583GeneReviews: Not available
See labs
Spondylometaphyseal dysplasia - Sutcliffe typeSee labs
Spondyloperipheral dysplasia-short ulna syndromeSee labs
Stickler syndrome type 1See labs
Stickler syndrome, type I, nonsyndromic ocular
MedGen: C1836080OMIM: 609508GeneReviews: Not available
See labs
Vitreoretinopathy with phalangeal epiphyseal dysplasia
MedGen: C1852989OMIM: 619248GeneReviews: Not available
See labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2020-07-29)

ClinGen Genome Curation Page
Haploinsufficency

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

Links

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