COL6A6 (collagen type VI alpha 6 chain)

2014-11-01  

Identity

HGNC
LOCATION
3q22.1
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 131873
MIM: 616613
HGNC: 27023
Ensembl: ENSG00000206384

Variants:

dbSNP: 131873
ClinVar: 131873
TCGA: ENSG00000206384
COSMIC: COL6A6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000206384ENST00000358511A6NMZ7
ENSG00000206384ENST00000506143H0YA33
ENSG00000206384ENST00000511332H0Y940

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
PI3K-Akt signaling pathwayKEGGhsa04151
PI3K-Akt signaling pathwayKEGGko04151
Signal TransductionREACTOMER-HSA-162582
Signaling by PDGFREACTOMER-HSA-186797
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814
Assembly of collagen fibrils and other multimeric structuresREACTOMER-HSA-2022090
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
NCAM1 interactionsREACTOMER-HSA-419037
Collagen chain trimerizationREACTOMER-HSA-8948216

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184007492008Three novel collagen VI chains, alpha4(VI), alpha5(VI), and alpha6(VI).58
222267322012Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.28
214062272011Collagen VI is a basement membrane component that regulates epithelial cell-fibronectin interactions.27
208820402011Expression of the collagen VI α5 and α6 chains in normal human skin and in skin of patients with collagen VI-related myopathies.24
249075622014Defective collagen VI α6 chain expression in the skeletal muscle of patients with collagen VI-related myopathies.9
281259762017Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing.3
305778002018Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population.1
263218612015New 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.0

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/col6a6-(collagen-type-vi-alpha-6-chain)