COL6A6
Collagen Type VI Alpha 6 Chain
Gene Information Card
| Symbol | COL6A6 |
|---|---|
| Full Name | Collagen Type VI Alpha 6 Chain |
| Gene Type | Protein coding |
| Chromosomal Location | 3q22.1 |
| NCBI Gene ID | 131873 ncbi.nlm.nih.gov/gene/131873 |
| Ensembl ID | ENSG00000163644 |
| UniProt ID | A6NMZ7 |
| OMIM ID | 616613 |
| HGNC ID | 20291 |
| Aliases | COL29A1, DKFZp686K03109 |
Description
COL6A6 (Collagen Type VI Alpha 6 Chain) is a protein-coding gene that encodes the alpha 6 chain of type VI collagen, a major component of the extracellular matrix. This collagen type is involved in tissue integrity, cell adhesion, and matrix organization. COL6A6 is expressed in various tissues, including skeletal muscle, skin, and lung, and has been implicated in connective tissue disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bethlem Myopathy | Mutations in COL6A6 may disrupt collagen VI assembly, leading to muscle weakness and contractures. | Limited evidence; case reports in ClinVar. |
| Ulcerative Colitis | COL6A6 variants have been associated with altered extracellular matrix in intestinal mucosa. | Genome-wide association studies (GWAS) in NCBI. |
| Lung Adenocarcinoma | Altered COL6A6 expression may influence tumor microenvironment and metastasis. | Expression data from COSMIC and TCGA. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal Muscle | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Skin | 6.7 | Low |
| Heart | 4.2 | Low |
| Colon | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 5.8 | Lung cancer cell line |
| HepG2 (Liver) | 2.1 | Hepatocellular carcinoma |
| MCF7 (Breast) | 1.5 | Breast cancer cell line |
| K562 (Leukemia) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234G>A (p.Gly412Arg) | Missense | 0.001% | Likely affects collagen triple helix stability |
| c.567delC (p.Leu189fs) | Frameshift | 0.0005% | Loss of function; premature stop codon |
| c.890T>C (p.Leu297Pro) | Missense | 0.002% | Unknown; possibly damaging |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations in COL6A6 are predicted to cause loss of function, leading to reduced collagen VI assembly.
Gain of Function (GOF)
No evidence of gain-of-function mutations in COL6A6.
Dominant Negative (DN)
Missense mutations in the triple helix domain may exert dominant-negative effects by disrupting collagen VI microfibril formation.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix structural constituent | • collagen binding |
| • integrin binding | • extracellular region |
| • collagen trimer | • extracellular matrix |
Pathways
• Collagen biosynthesis and modifying enzymes
• ECM-receptor interaction
• Integrin signaling pathway
Protein Summary
The COL6A6 protein is a 1,010-amino acid alpha chain of type VI collagen. It contains a triple-helical domain flanked by N- and C-terminal globular domains. The protein assembles into heterotrimers with other collagen VI alpha chains (COL6A1, COL6A2, COL6A3) to form microfibrils in the extracellular matrix. These microfibrils provide structural support and mediate cell-matrix interactions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COL6A6 Knockout HEK293 Cell Line | EDJ-KQ778 | Human | 131873 | Details Get a Quote |
| COL6A6 Knockout HeLa Cell Line | EDJ-KQ58303 | Human | 131873 | Details Get a Quote |
| COL6A6 Knockout A-549 Cell Line | EDJ-KQ66791 | Human | 131873 | Details Get a Quote |
| COL6A6 Knockout HCT 116 Cell Line | EDJ-KQ75194 | Human | 131873 | Details Get a Quote |
