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COL2A1 - collagen type II alpha 1 chain
- Synonym(s) : STL1
- Previous symbols and names : 'collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)', AOM, Collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital), SEDC, arthroophthalmopathy, progressive (Stickler syndrome), collagen type II alpha 1, collagen, type II, alpha 1
- Type : gene with protein product
- Chromosomal location : 12q13.11
- OMIM: 120140
- HGNC: 2200
- UniProtKB: P02458
- Genatlas: COL2A1
- GenCC: COL2A1
- Ensembl: ENSG00000139219
- IUPHAR-DB: -
- Reactome: P02458
- LOVD: COL2A1
Diseases list
- Disease-causing germline mutation(s) in Achondrogenesis type 2
ORPHA:93296 
- Disease-causing germline mutation(s) in Autosomal dominant rhegmatogenous retinal detachment
ORPHA:209867 - Disease-causing germline mutation(s) in Dysspondyloenchondromatosis
ORPHA:85198 - Disease-causing germline mutation(s) in Familial avascular necrosis of femoral head
ORPHA:86820 - Disease-causing germline mutation(s) in Hypochondrogenesis
ORPHA:93297 - Disease-causing germline mutation(s) in Kniest dysplasia
ORPHA:485 - Disease-causing germline mutation(s) in Legg-Calvé-Perthes disease
ORPHA:2380 - Disease-causing germline mutation(s) in Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
ORPHA:93279 - Disease-causing germline mutation(s) in Multiple epiphyseal dysplasia, Beighton type
ORPHA:166011 - Disease-causing germline mutation(s) in Platyspondylic dysplasia, Torrance type
ORPHA:85166 - Disease-causing germline mutation(s) in Spondyloepimetaphyseal dysplasia congenita, Strudwick type
ORPHA:93346 - Disease-causing germline mutation(s) in Spondyloepiphyseal dysplasia congenita
ORPHA:94068 - Disease-causing germline mutation(s) in Spondyloepiphyseal dysplasia, Stanescu type
ORPHA:459051 - Disease-causing germline mutation(s) in Spondyloepiphyseal dysplasia with metatarsal shortening
ORPHA:137678 - Disease-causing germline mutation(s) in Spondylometaphyseal dysplasia, Schmidt type
ORPHA:93316 - Disease-causing germline mutation(s) in Spondyloperipheral dysplasia-short ulna syndrome
ORPHA:1856 - Disease-causing germline mutation(s) in Stickler syndrome type 1
ORPHA:90653 - Candidate gene tested in Autosomal dominant otospondylomegaepiphyseal dysplasia
ORPHA:166100 - Candidate gene tested in Spondylometaphyseal dysplasia, 'corner fracture' type
ORPHA:93315
: AssessedAdditional information
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