COL5A2 (collagen type V alpha 2 chain)

2018-07-01  

Identity

HGNC
LOCATION
2q32.2
LOCUSID
ALIAS
EDSC,EDSCL2
FUSION GENES

Other Information

Locus ID:

NCBI: 1290
MIM: 120190
HGNC: 2210
Ensembl: ENSG00000204262

Variants:

dbSNP: 1290
ClinVar: 1290
TCGA: ENSG00000204262
COSMIC: COL5A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000204262ENST00000374866P05997
ENSG00000204262ENST00000618828A0A087WYX9
ENSG00000204262ENST00000649966A0A3B3IRH9

Expression (GTEx)

0
50
100
150
200
250
300
350

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
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
Collagen chain trimerizationREACTOMER-HSA-8948216

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208476972010Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.42
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
188187482008Preterm birth in Caucasians is associated with coagulation and inflammation pathway gene variants.31
195275142009Racial disparity in pathophysiologic pathways of preterm birth based on genetic variants.31
226962722012Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.31
164319522006Structural abnormalities of the cornea and lid resulting from collagen V mutations.30
191805182009Associations of 25 structural, degradative, and inflammatory candidate genes with lumbar disc desiccation, bulging, and height narrowing.29
190193352009Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants.26

Citation

Dessen P

COL5A2 (collagen type V alpha 2 chain)

Atlas Genet Cytogenet Oncol Haematol. 2018-07-01

Online version: http://atlasgeneticsoncology.org/gene/57558/col5a2