Col6a3 Gene Summary [Mouse]

Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be an extracellular matrix structural constituent conferring tensile strength. Acts upstream of or within neuron apoptotic process; phosphatidylinositol 3-kinase/protein kinase B signal transduction; and response to UV. Located in extracellular matrix; extracellular space; and sarcolemma. Part of collagen trimer. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; heart and pericardium; and musculoskeletal system. Used to study Ullrich congenital muscular dystrophy and congenital muscular dystrophy. Human ortholog(s) of this gene implicated in several diseases, including artery disease (multiple); chronic kidney disease; dystonia 27; muscular dystrophy (multiple); and primary open angle glaucoma. Orthologous to human COL6A3 (collagen type VI alpha 3 chain). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Col6a3
Official Name
collagen, type VI, alpha 3 [Source:MGI Symbol;Acc:MGI:88461]
Ensembl ID
ENSMUSG00000048126
Bio databases IDs NCBI: 12835 Ensembl: ENSMUSG00000048126
Aliases collagen, type VI, alpha 3
Synonyms alpha3 (VI) COLLAGEN, BTHLM1, BTHLM1C, Collagen type VI alpha 3, collagen, type VI, alpha 3, collagen type VI alpha 3 chain, Collagen type VI α 3, collagen, type VI, α 3, collagen type VI α 3 chain, DYT27, UCMD1, UCMD1C
Species
Mouse, Mus musculus
OrthologiesHumanRat

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 mouse Col6a3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular matrix structural constituent conferring tensile strength
  • NC1 domain
  • Kunitz/Bovine pancreatic trypsin inhibitor (BPTI) domain
  • von Willebrand factor (vWF) type A domain
  • globular domain
  • C5 domain
  • von Willebrand factor type A domain
  • n-terminal subdomain
  • triple helical domain
  • noncollagenous domain
  • FN3
  • vWFA
  • Collagen triple helix repeat (20 copies)
  • c-terminal subdomain
  • Histone H1-like nucleoprotein HC2

Pathways

Biological processes and signaling networks where the Col6a3 gene in mouse 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
  • hepatocellular carcinoma
  • breast carcinoma
  • lung squamous cell carcinoma
  • renal clear cell adenocarcinoma
  • thyroid carcinoma
  • hypertension
  • urothelial bladder carcinoma
  • cutaneous melanoma
  • bladder cancer
  • head and neck squamous cell carcinoma
regulated by
regulates
role in cell
  • expression in
  • growth
  • apoptosis
  • formation
  • quantity
  • proliferation
  • contact growth inhibition
  • communication

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
  • cell-associated matrix
  • myofilaments
  • lipid droplets
  • endoplasmic reticulum lumen
  • nuclear scaffolds
  • sarcolemma
  • extracellular matrix
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Col6a3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • muscle organ development
  • response to glucose stimulus
  • protein kinase B signaling cascade
  • response to UV
  • cell adhesion
  • neuron apoptotic process

Cellular Component

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

Molecular Function

What the gene product does at the molecular level
  • serine-type endopeptidase inhibitor activity
  • 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.