Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 131873
MIM: 616613
HGNC: 27023
Ensembl: ENSG00000206384
Variants:
dbSNP: 131873
ClinVar: 131873
TCGA: ENSG00000206384
COSMIC: COL6A6
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000206384 | ENST00000358511 | A6NMZ7 |
| ENSG00000206384 | ENST00000506143 | H0YA33 |
| ENSG00000206384 | ENST00000511332 | H0Y940 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35333290 | 2022 | New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family. | 2 |
| 35333290 | 2022 | New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family. | 2 |
| 30577800 | 2018 | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population. | 7 |
| 30577800 | 2018 | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population. | 7 |
| 28125976 | 2017 | Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing. | 11 |
| 28125976 | 2017 | Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing. | 11 |
| 26321861 | 2015 | New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP. | 2 |
| 26321861 | 2015 | New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP. | 2 |
| 24907562 | 2014 | Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. | 19 |
| 24907562 | 2014 | Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies. | 19 |
| 22226732 | 2012 | Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. | 43 |
| 22226732 | 2012 | Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. | 43 |
| 20882040 | 2011 | Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. | 40 |
| 21406227 | 2011 | Collagen VI is a basement membrane component that regulates epithelial cell-fibronectin interactions. | 58 |
| 20882040 | 2011 | Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. | 40 |
Citation
Dessen P
COL6A6 (collagen type VI alpha 6 chain)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62000/tumors-explorer/
