COL6A2 (collagen type VI alpha 2 chain)

2014-11-01  

Identity

HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
BTHLM1,PP3610,UCMD1
FUSION GENES

Other Information

Locus ID:

NCBI: 1292
MIM: 120240
HGNC: 2212
Ensembl: ENSG00000142173

Variants:

dbSNP: 1292
ClinVar: 1292
TCGA: ENSG00000142173
COSMIC: COL6A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142173ENST00000300527P12110
ENSG00000142173ENST00000300527A0A384MDP3
ENSG00000142173ENST00000310645P12110
ENSG00000142173ENST00000397763P12110
ENSG00000142173ENST00000409416P12110
ENSG00000142173ENST00000413758H7C0M5
ENSG00000142173ENST00000436769C9JH44

Expression (GTEx)

0
500
1000
1500
2000
2500

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
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
188524392008Autosomal recessive myosclerosis myopathy is a collagen VI disorder.48
155635062005Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.47
183660902008Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.30
123745852002Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy.24
122180632002Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.21
149811812004Ullrich disease due to deficiency of collagen VI in the sarcolemma.19
244430282014Collagen type VI myopathies.17
196987852009The alpha 2 chain of collagen type VI sequesters latent proforms of matrix-metalloproteinases and modulates their activation and activity.16
193096922009Identification and characterization of novel collagen VI non-canonical splicing mutations causing Ullrich congenital muscular dystrophy.15

Citation

Dessen P

COL6A2 (collagen type VI alpha 2 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61996/col6a2