COL6A5 (collagen type VI alpha 5 chain)

2014-11-01  

Identity

HGNC
LOCATION
3q22.1
LOCUSID
ALIAS
COL29A1,VWA4

Other Information

Locus ID:

NCBI: 256076
MIM: 611916
HGNC: 26674
Ensembl: ENSG00000172752

Variants:

dbSNP: 256076
ClinVar: 256076
TCGA: ENSG00000172752
COSMIC: COL6A5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172752ENST00000265379E9PAL5
ENSG00000172752ENST00000312481A8TX70
ENSG00000172752ENST00000373157H0Y393
ENSG00000172752ENST00000512482H0Y9T2
ENSG00000172752ENST00000512836H0Y935

Expression (GTEx)

0
1
2
3
4
5
6

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
339746362021Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.7
339746362021Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.7
321934012020Collagen type VI α5 gene variations may predict the risk of lung cancer development in Chinese Han population.4
323265272020RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects.11
321934012020Collagen type VI α5 gene variations may predict the risk of lung cancer development in Chinese Han population.4
323265272020RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects.11
312759672019Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations.6
312759672019Atopic Eczema: Genetic Analysis of COL6A5, COL8A1, and COL10A1 in Mediterranean Populations.6
280737872017COL6A5 variants in familial neuropathic chronic itch.16
292178202017Longitudinal exome-wide association study to identify genetic susceptibility loci for hypertension in a Japanese population.7
280737872017COL6A5 variants in familial neuropathic chronic itch.16
292178202017Longitudinal exome-wide association study to identify genetic susceptibility loci for hypertension in a Japanese population.7
222267322012Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.43
222267322012Expression of collagen VI α5 and α6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis.43
208820402011Expression 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

COL6A5 (collagen type VI alpha 5 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61999/col6a5-(collagen-type-vi-alpha-5-chain)