COL6A2 Gene
Collagen Type VI Alpha 2 Chain
Gene Information Card
| Symbol | COL6A2 |
|---|---|
| Full Name | Collagen Type VI Alpha 2 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 21q22.3 |
| NCBI Gene ID | 1292 ncbi.nlm.nih.gov/gene/1292 |
| Ensembl ID | ENSG00000142173 |
| UniProt ID | P12110 |
| OMIM ID | 120240 |
| HGNC ID | 2212 |
| Aliases | C6A2, collagen alpha-2(VI) chain, PP3610 |
Description
COL6A2 encodes the alpha-2 chain of type VI collagen, a major extracellular matrix protein that forms microfibrils and mediates cell-matrix interactions. Mutations in this gene cause autosomal dominant and recessive forms of Bethlem myopathy and Ullrich congenital muscular dystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bethlem myopathy 1 (BTHLM1) | Dominant-negative or loss-of-function mutations in COL6A2 disrupt collagen VI microfibril assembly, weakening the extracellular matrix in skeletal muscle. | ClinVar, OMIM #158810 |
| Ullrich congenital muscular dystrophy 1 (UCMD1) | Recessive loss-of-function mutations lead to severe deficiency of collagen VI in muscle and connective tissue, causing early-onset muscle weakness and joint contractures. | ClinVar, OMIM #254090 |
| Myosclerosis, autosomal recessive | Homozygous missense mutations in COL6A2 cause abnormal collagen VI deposition, leading to progressive muscle fibrosis and joint stiffness. | OMIM #255600 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Lung | 6.1 | Low |
| Placenta | 5.4 | Low |
| Skin | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblasts | 15.2 | High expression |
| Smooth muscle cells | 10.1 | Medium expression |
| Myoblasts | 8.7 | Medium expression |
| Endothelial cells | 4.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.877G>A (p.Gly293Arg) | Missense | <0.01% | Dominant-negative; disrupts triple helix formation |
| c.950delG (p.Gly317Valfs*3) | Frameshift deletion | <0.01% | Loss-of-function; associated with UCMD1 |
| c.1630G>A (p.Gly544Ser) | Missense | <0.01% | Dominant-negative; causes Bethlem myopathy |
Mutation functional classification
Loss of Function (LOF)
Recessive frameshift or nonsense mutations lead to complete loss of COL6A2 function, causing Ullrich congenital muscular dystrophy.
Gain of Function (GOF)
Not reported for COL6A2.
Dominant Negative (DN)
Dominant-negative missense mutations (e.g., glycine substitutions in the triple helix) impair collagen VI assembly, causing Bethlem myopathy.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Collagen VI biosynthesis and assembly (Reactome: R-HSA-1650814)
• ECM-receptor interaction (KEGG: hsa04512)
• Focal adhesion (KEGG: hsa04510)
Protein Summary
The COL6A2 protein (alpha-2 chain of type VI collagen) is a 1,019-amino-acid polypeptide that assembles with alpha-1 and alpha-3 chains to form triple-helical collagen VI monomers. These monomers polymerize into microfibrils that anchor cells to the extracellular matrix. The protein contains a central triple-helical domain flanked by N- and C-terminal globular domains rich in von Willebrand factor A domains.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL6A2 Knockout HEK293 Cell Line | EDJ-KQ2249 | Human | 1292 | Details Get a Quote |
| COL6A2 Knockout A-549 Cell Line | EDJ-KQ23927 | Human | 1292 | Details Get a Quote |
| COL6A2 Knockout HCT 116 Cell Line | EDJ-KQ23929 | Human | 1292 | Details Get a Quote |
| COL6A2 Knockout HeLa Cell Line | EDJ-KQ23930 | Human | 1292 | Details Get a Quote |
