Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   
Gene: COL12A1 (collagen type XII alpha 1 chain) Homo sapiens
Symbol: COL12A1
Name: collagen type XII alpha 1 chain
Description: Predicted to have extracellular matrix structural constituent conferring tensile strength. Involved in endodermal cell differentiation. Localizes to collagen-containing extracellular matrix and extracellular exosome. Implicated in Ullrich congenital muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BA209D8.1; BTHLM2; COL12A1L; collagen alpha-1(XII) chain; collagen type XII alpha 1; collagen type XII proteoglycan; collagen, type XII, alpha 1; collagen, type XII, alpha 1-like; DJ234P15.1; EDSMYP; procollagen, type xii, alpha 1; UCMD2
Mus musculus (house mouse) : Col12a1 (collagen, type XII, alpha 1)  MGI  Alliance
Rattus norvegicus (Norway rat) : Col12a1 (collagen type XII alpha 1 chain)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Col12a1 (collagen type XII alpha 1 chain)
Pan paniscus (bonobo/pygmy chimpanzee) : COL12A1 (collagen type XII alpha 1 chain)
Canis lupus familiaris (dog) : COL12A1 (collagen type XII alpha 1 chain)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Col12a1 (collagen type XII alpha 1 chain)
Sus scrofa (pig) : COL12A1 (collagen type XII alpha 1 chain)
Chlorocebus sabaeus (African green monkey) : COL12A1 (collagen type XII alpha 1 chain)
Heterocephalus glaber (naked mole-rat) : Col12a1 (collagen type XII alpha 1 chain)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38.p13 Ensembl675,084,326 - 75,206,053 (-)EnsemblGRCh38hg38GRCh38
GRCh38675,084,326 - 75,206,262 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37675,794,042 - 75,915,623 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36675,850,762 - 75,972,343 (-)NCBINCBI36hg18NCBI36
Build 34675,850,762 - 75,972,290NCBI
Celera676,187,813 - 76,309,373 (-)NCBI
Cytogenetic Map6q13-q14.1NCBI
HuRef672,993,071 - 73,114,767 (-)NCBIHuRef
CHM1_1675,960,467 - 76,082,046 (-)NCBICHM1_1
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
miRNA Target Status


RNA-SEQ Expression


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links