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Gene: COL1A2 (collagen type I alpha 2 chain) Homo sapiens
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Symbol: COL1A2
Name: collagen type I alpha 2 chain
Description: This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: alpha 2 type I procollagen; alpha 2(I) procollagen; alpha 2(I)-collagen; alpha-2 type I collagen; collagen alpha-2(I) chain; collagen I, alpha-2 polypeptide; collagen of skin, tendon and bone, alpha-2 chain; collagen type I alpha 2; collagen, type I, alpha 2; EDSARTH2; EDSCV; OI4; type I procollagen
Orthologs:
Mus musculus (house mouse) : Col1a2 (collagen, type I, alpha 2)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col1a2 (collagen type I alpha 2 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col1a2 (collagen type I alpha 2 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL1A2 (collagen type I alpha 2 chain)
Canis lupus familiaris (dog) : COL1A2 (collagen type I alpha 2 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col1a2 (collagen type I alpha 2 chain)
Sus scrofa (pig) : COL1A2 (collagen type I alpha 2 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38794,394,895 - 94,431,227 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37794,023,873 - 94,060,544 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36793,861,809 - 93,898,480 (+)NCBINCBI36hg18NCBI36
Build 34793,668,523 - 93,705,195NCBI
Celera788,722,142 - 88,758,790 (+)NCBI
Cytogenetic Map7q21.3NCBI
HuRef788,631,579 - 88,668,235 (+)NCBIHuRef
CHM1_1793,953,972 - 93,990,650 (+)NCBICHM1_1
CRA_TCAGchr7v2793,353,052 - 93,389,700 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
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