COL6A3
Collagen Type VI Alpha 3 Chain
Gene Information Card
| Symbol | COL6A3 |
|---|---|
| Full Name | Collagen Type VI Alpha 3 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 2q37.3 |
| NCBI Gene ID | 1293 ncbi.nlm.nih.gov/gene/1293 |
| Ensembl ID | ENSG00000163359 |
| UniProt ID | P12111 |
| OMIM ID | 120250 |
| HGNC ID | 2213 |
| Aliases | COL6A3, DKFZp686I03110, FLJ35734, MGC10500 |
Description
COL6A3 encodes the alpha-3 chain of collagen type VI, a major extracellular matrix protein that forms microfibrils and provides structural support in connective tissues. Mutations in this gene are associated with Bethlem myopathy and Ullrich congenital muscular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bethlem myopathy | Missense or splice-site mutations disrupt collagen VI microfibril assembly, weakening muscle extracellular matrix | ClinVar, OMIM |
| Ullrich congenital muscular dystrophy | Loss-of-function mutations (nonsense, frameshift) lead to severe collagen VI deficiency and muscle degeneration | ClinVar, OMIM |
| Myosclerosis | Dominant negative mutations in COL6A3 cause abnormal collagen VI deposition and muscle fibrosis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Adipose tissue | 4.7 | Low |
| Skin | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 15.2 | High expression |
| Fibroblasts | 10.8 | Medium expression |
| Cardiomyocytes | 7.4 | Low expression |
| A549 (lung cancer) | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.877G>A (p.Gly293Arg) | Missense | Rare | Disrupts triple helix formation, dominant negative effect |
| c.1630C>T (p.Arg544Ter) | Nonsense | Rare | Premature stop, loss of function |
| c.6210+1G>A | Splice site | Rare | Exon skipping, frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and collagen VI deficiency
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Missense mutations in the triple helix domain that interfere with microfibril assembly
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen binding |
| • integrin binding | • extracellular matrix organization |
| • cell adhesion |
Pathways
• Collagen biosynthesis and modifying enzymes
• ECM-receptor interaction
• Integrin signaling pathway
Protein Summary
The COL6A3 protein is a 3,177-amino acid chain that forms homotrimers and heterotrimers with alpha-1 and alpha-2 chains to assemble collagen VI microfibrils. It contains von Willebrand factor type A domains and a triple-helical region, essential for matrix integrity in muscle and connective tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL6A3 Knockout HEK293 Cell Line | EDJ-KQ776 | Human | 1293 | Details Get a Quote |
| COL6A3 Knockout HeLa Cell Line | EDJ-KQ19487 | Human | 1293 | Details Get a Quote |
| COL6A3 Knockout A-549 Cell Line | EDJ-KQ61416 | Human | 1293 | Details Get a Quote |
| COL6A3 Knockout HCT 116 Cell Line | EDJ-KQ69915 | Human | 1293 | Details Get a Quote |
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