Identity
HGNC
LOCATION
Xq22.3
LOCUSID
ALIAS
CXDELq22.3,DELXq22.3,DFNX6
FUSION GENES
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: 1288
MIM: 303631
HGNC: 2208
Ensembl: ENSG00000197565
Variants:
dbSNP: 1288
ClinVar: 1288
TCGA: ENSG00000197565
COSMIC: COL4A6
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33840813 | 2022 | Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications. | 3 |
| 33840813 | 2022 | Confirmation of COL4A6 variants in X-linked nonsyndromic hearing loss and its clinical implications. | 3 |
| 29422532 | 2018 | Type IV collagen α6 chain is a regulator of keratin 10 in keratinization of oral mucosal epithelium. | 16 |
| 29422532 | 2018 | Type IV collagen α6 chain is a regulator of keratin 10 in keratinization of oral mucosal epithelium. | 16 |
| 28275241 | 2017 | Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. | 11 |
| 28275241 | 2017 | Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. | 11 |
| 26811494 | 2016 | Genetic alterations and their clinical implications in gastric cancer peritoneal carcinomatosis revealed by whole-exome sequencing of malignant ascites. | 22 |
| 27377778 | 2016 | COL4A6 is dispensable for autosomal recessive Alport syndrome. | 12 |
| 26811494 | 2016 | Genetic alterations and their clinical implications in gastric cancer peritoneal carcinomatosis revealed by whole-exome sequencing of malignant ascites. | 22 |
| 27377778 | 2016 | COL4A6 is dispensable for autosomal recessive Alport syndrome. | 12 |
| 26179878 | 2015 | Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism. | 5 |
| 26179878 | 2015 | Chinese family with diffuse oesophageal leiomyomatosis: a new COL4A5/COL4A6 deletion and a case of gonosomal mosaicism. | 5 |
| 23551189 | 2014 | Angiogenesis and collagen type IV expression in different endothelial cell culture systems. | 15 |
| 23714752 | 2014 | Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. | 25 |
| 23551189 | 2014 | Angiogenesis and collagen type IV expression in different endothelial cell culture systems. | 15 |
Citation
Dessen P
COL4A6 (collagen type IV alpha 6 chain)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/40127/col4a6
