Collagen, type XII, alpha 1

Collagen alpha-1(XII) chain is a protein that in humans is encoded by the COL12A1 gene.^[5][6]

COL12A1
Identifiers
Aliases	COL12A1, BA209D8.1, COL12A1L, DJ234P15.1, BTHLM2, UCMD2, collagen type XII alpha 1, collagen type XII alpha 1 chain, EDSMYP
External IDs	OMIM: 120320; MGI: 88448; HomoloGene: 3217; GeneCards: COL12A1; OMA:COL12A1 - orthologs
Gene location (Human) Chr. Chromosome 6 (human)[1] Band 6q13-q14.1 Start 75,084,326 bp[1] End 75,206,267 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 E1|9 43.82 cM Start 79,506,273 bp[2] End 79,626,113 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibia Achilles tendon cartilage tissue stromal cell of endometrium skin of arm pericardium synovial joint vulva tail of epididymis synovial membrane Top expressed in body of femur calvaria umbilical cord dermis stroma of bone marrow molar vas deferens human fetus efferent ductule external carotid artery More reference expression data BioGPS n/a
Gene ontology Molecular function extracellular matrix structural constituent conferring tensile strength Cellular component extracellular vesicle collagen type XII trimer collagen endoplasmic reticulum lumen extracellular exosome extracellular space extracellular matrix extracellular region collagen-containing extracellular matrix Biological process collagen catabolic process skeletal system development cell adhesion endodermal cell differentiation collagen fibril organization growth plate cartilage chondrocyte morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 1303 12816 Ensembl ENSG00000111799 ENSMUSG00000032332 UniProt Q99715 Q60847 RefSeq (mRNA) NM_004370 NM_080645 NM_001290308 NM_007730 RefSeq (protein) NP_004361 NP_542376 NP_001277237 Location (UCSC) Chr 6: 75.08 – 75.21 Mb Chr 9: 79.51 – 79.63 Mb PubMed search [3] [4]
Wikidata
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This gene encodes the alpha chain of type XII collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XII collagen is a homotrimer found in association with type I collagen, an association that is thought to modify the interactions between collagen I fibrils and the surrounding matrix.

Alternatively spliced transcript variants encoding different isoforms have been identified.^[6]

Clinical significance

Mutations in COL12A1 are known to cause the following conditions:

• Bethlem myopathy 2 (also known as Ehlers-Danlos syndrome myopathic type);^[7]
• Ullrich congenital muscular dystrophy 2.^[7]