Gene: COL1A2 (collagen, type I, alpha 2)  Homo sapiens
Symbol: COL1A2
Name: collagen, type I, alpha 2
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(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; OI4; OTTHUMP00000192906; type I procollagen
Orthologs: Mus musculus : Col1a2 (collagen, type I, alpha 2)  MGI
Rattus norvegicus : Col1a2 (collagen, type I, alpha 2)
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Alternate Assembly CHM1_1797,330,429 - 97,367,100+NCBI
Human Alternate Assembly CRA_TCAGchr7v2793,353,052 - 93,389,700+NCBI
Human Genome Assembly HuRef788,631,579 - 88,668,235+NCBI
Human Genome Assembly GRCh37794,023,873 - 94,060,544+NCBI
Human Genome Assembly Build 36793,861,809 - 93,898,480+NCBI
Human Cytogenetic Map7q22.1 NCBI
Human Genome Assembly793,668,523 - 93,705,195 NCBI
Model

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Sequence

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Nomenclature History
  
More on COL1A2
Entrez Gene
Ensembl Gene
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Vista + UCSC

RGD Object Information
RGD ID: 730984
Created: 2003-12-10
Species: Homo sapiens
Last Modified: 2013-05-14
Status: ACTIVE



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