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Gene: COL1A2 (collagen type I alpha 2 chain) Homo sapiens
Symbol: COL1A2
Name: collagen type I alpha 2 chain
RGD ID: 730984
Description: Exhibits several functions, including identical protein binding activity; platelet-derived growth factor binding activity; and protease binding activity. Involved in several processes, including Rho protein signal transduction; collagen fibril organization; and skin morphogenesis. Localizes to collagen type I trimer; endoplasmic reticulum; and extracellular space. Implicated in Ehlers-Danlos syndrome (multiple); heart valve disease; intracranial aneurysm; osteogenesis imperfecta (multiple); and osteoporosis.
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
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)
Chlorocebus sabaeus (African green monkey) : COL1A2 (collagen type I alpha 2 chain)
Heterocephalus glaber (naked mole-rat) : Col1a2 (collagen type I alpha 2 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl794,394,895 - 94,431,227 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl794,394,561 - 94,431,232 (+)EnsemblGRCh38hg38GRCh38
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)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers