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Gene: COL2A1 (collagen type II alpha 1 chain) Homo sapiens
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Symbol: COL2A1
Name: collagen type II alpha 1 chain
Description: Exhibits MHC class II protein binding activity; platelet-derived growth factor binding activity; and proteoglycan binding activity. Involved in several processes, including collagen fibril organization; embryonic skeletal joint morphogenesis; and sensory perception of sound. Localizes to collagen type II trimer and extracellular space. Implicated in Stickler syndrome; bone disease (multiple); cleft palate; eye disease (multiple); and multiple epiphyseal dysplasia with myopia and deafness.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha-1 type II collagen; ANFH; AOM; arthroophthalmopathy, progressive (Stickler syndrome); cartilage collagen; chondrocalcin; COL11A3; collagen alpha-1(II) chain; collagen II, alpha-1 polypeptide; collagen type II alpha 1; collagen, type II, alpha 1; MGC131516; SEDC; STL1
Orthologs:
Mus musculus (house mouse) : Col2a1 (collagen, type II, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col2a1 (collagen type II alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col2a1 (collagen type II alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL2A1 (collagen type II alpha 1 chain)
Canis lupus familiaris (dog) : COL2A1 (collagen type II alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col2a1 (collagen type II alpha 1 chain)
Sus scrofa (pig) : COL2A1 (collagen type II alpha 1 chain)
Chlorocebus sabaeus (African green monkey) : COL2A1 (collagen type II alpha 1 chain)
Heterocephalus glaber (naked mole-rat) : Col2a1 (collagen type II alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38 Ensembl1247,972,967 - 48,004,554 (-)EnsemblGRCh38hg38GRCh38
GRCh381247,972,967 - 48,006,212 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371248,366,748 - 48,398,285 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361246,653,015 - 46,684,552 (-)NCBINCBI36hg18NCBI36
Build 341246,653,017 - 46,684,528NCBI
Celera1247,164,396 - 47,195,933 (-)NCBI
Cytogenetic Map12q13.11NCBI
HuRef1245,398,588 - 45,430,128 (-)NCBIHuRef
CHM1_11248,332,620 - 48,364,163 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
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