COL12A1 Gene Summary [Human]

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. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
COL12A1
Official Name
collagen type XII alpha 1 chain [Source:HGNC Symbol;Acc:HGNC:2188]
Ensembl ID
ENSG00000111799
Bio databases IDs NCBI: 1303 Ensembl: ENSG00000111799
Aliases collagen type XII alpha 1 chain, collagen type XII proteoglycan
Synonyms AW743884, BA209D8.1, BTHLM2, COCA1, COL12A1L, COLLAGEN12, collagen, type XII, alpha 1, collagen type XII alpha 1 chain, collagen, type XII, α 1, collagen type XII α 1 chain, Col xii, DJ234P15.1, EDSMYP, UCMD2
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human COL12A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • von Willebrand factor (vWF) type A domain
  • LamG
  • FN3
  • vWFA
  • Purple acid Phosphatase, N-terminal domain
  • extracellular matrix structural constituent
  • Collagen triple helix repeat (20 copies)
  • von Willebrand factor type A domain
  • Fibronectin type 3 domain

Pathways

Biological processes and signaling networks where the COL12A1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • endometriosis
  • diabetic foot ulcer disorder
  • Dupuytren contracture
  • kyphoscoliosis
  • Bethlem myopathy type 2
  • hereditary disorder
  • organismal death
  • preeclampsia
  • aortic valve calcification
  • early onset hypertension
regulated by
regulates
role in cell
  • expression in
  • migration
  • proliferation
  • function
  • abnormal morphology

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Extracellular Space
  • pH resistant lipid raft fraction
  • endoplasmic reticulum lumen

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human COL12A1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • endodermal cell differentiation
  • cell adhesion
  • collagen fibril organization

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum lumen
  • extracellular space
  • extracellular vesicular exosome
  • collagen type XII
  • extracellular region

Molecular Function

What the gene product does at the molecular level
  • extracellular matrix structural constituent conferring tensile strength

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.