COL6A3 (collagen type VI alpha 3 chain)

2007-02-01  

Identity

HGNC
LOCATION
2q37.3
LOCUSID
ALIAS
BTHLM1,DYT27,UCMD1
FUSION GENES

Other Information

Locus ID:

NCBI: 1293
MIM: 120250
HGNC: 2213
Ensembl: ENSG00000163359

Variants:

dbSNP: 1293
ClinVar: 1293
TCGA: ENSG00000163359
COSMIC: COL6A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163359ENST00000295550P12111
ENSG00000163359ENST00000295550D9ZGF2
ENSG00000163359ENST00000347401E7ENL6
ENSG00000163359ENST00000353578P12111
ENSG00000163359ENST00000392003P12111
ENSG00000163359ENST00000392004P12111
ENSG00000163359ENST00000409809P12111
ENSG00000163359ENST00000433762C9JNG9
ENSG00000163359ENST00000472056P12111
ENSG00000163359ENST00000491233I3L392

Expression (GTEx)

0
500
1000
1500

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
198379272009Adipose tissue collagen VI in obesity.87
246472242014Endotrophin triggers adipose tissue fibrosis and metabolic dysfunction.68
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
155635062005Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.47
119922522002Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.35
183660902008Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.30
238189512013Genome-wide DNA methylation analysis reveals a potential mechanism for the pathogenesis and development of uterine leiomyomas.30
198345352009Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.27
256351282015Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.27
263389662015Stroma derived COL6A3 is a potential prognosis marker of colorectal carcinoma revealed by quantitative proteomics.23

Citation

Dessen P

COL6A3 (collagen type VI alpha 3 chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/50019/col6a3