COL6A5
Collagen Type VI Alpha 5 Chain
Gene Information Card
| Symbol | COL6A5 |
|---|---|
| Full Name | Collagen Type VI Alpha 5 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 256076 ncbi.nlm.nih.gov/gene/256076 |
| Ensembl ID | ENSG00000184937 |
| UniProt ID | A6NMZ7 |
| OMIM ID | 611496 |
| HGNC ID | 15987 |
| Aliases | COL6A5, collagen alpha-5(VI) chain, von Willebrand factor A domain-containing protein 1 |
Description
COL6A5 (Collagen Type VI Alpha 5 Chain) is a protein-coding gene located on chromosome 3q22.1. It encodes the alpha-5 chain of collagen type VI, a beaded filament-forming collagen that is a major component of the extracellular matrix. Collagen VI microfibrils are involved in tissue integrity, cell adhesion, and signaling. COL6A5 is expressed in various tissues, including skeletal muscle, skin, and lung. Mutations in COL6A5 have been associated with Bethlem myopathy and Ullrich congenital muscular dystrophy, though evidence is limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bethlem myopathy | Missense mutations in COL6A5 disrupt collagen VI assembly and extracellular matrix stability, leading to muscle weakness. | ClinVar, OMIM |
| Ullrich congenital muscular dystrophy | Loss-of-function mutations impair collagen VI microfibril formation, causing severe congenital muscle dystrophy. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.3 | Medium |
| Skin | 8.7 | Low |
| Lung | 6.5 | Low |
| Heart | 4.2 | Low |
| Adipose tissue | 3.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.8 | Low expression |
| HeLa (cervical carcinoma) | 2.3 | Not detected |
| HUVEC (umbilical vein endothelial) | 1.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Disrupts collagen triple helix formation |
| c.789delC (p.Pro263fs) | Frameshift | Very rare | Loss of function, premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein and loss of collagen VI assembly.
Gain of Function (GOF)
Not reported for COL6A5.
Dominant Negative (DN)
Missense mutations in the triple helix domain can interfere with normal collagen VI chain incorporation.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen binding |
| • extracellular matrix organization | • cell adhesion |
| • integrin binding |
Pathways
• Collagen biosynthesis and modifying enzymes
• ECM-receptor interaction
• Integrin signaling pathway
Protein Summary
The COL6A5 protein is a 2,615-amino acid alpha-5 chain of collagen type VI. It contains a central triple-helical domain flanked by N- and C-terminal globular domains with von Willebrand factor A domains. It assembles into heterotrimeric collagen VI microfibrils that provide structural support in the extracellular matrix. The protein is secreted and localizes to the extracellular space.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL6A5 Knockout HEK293 Cell Line | EDJ-KQ777 | Human | 256076 | Details Get a Quote |
| COL6A5 Knockout HeLa Cell Line | EDJ-KQ59293 | Human | 256076 | Details Get a Quote |
| COL6A5 Knockout A-549 Cell Line | EDJ-KQ67759 | Human | 256076 | Details Get a Quote |
| COL6A5 Knockout HCT 116 Cell Line | EDJ-KQ76144 | Human | 256076 | Details Get a Quote |
