COL5A3 (collagen type V alpha 3 chain)

2014-01-01  

Identity

HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 50509
MIM: 120216
HGNC: 14864
Ensembl: ENSG00000080573

Variants:

dbSNP: 50509
ClinVar: 50509
TCGA: ENSG00000080573
COSMIC: COL5A3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080573ENST00000264828P25940

Expression (GTEx)

0
50
100
150

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
291682912018The COL5A3 and MMP9 genes interact in eczema susceptibility.2
291682912018The COL5A3 and MMP9 genes interact in eczema susceptibility.2
190123422008Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome.1
190123422008Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome.1
151365782004Biosynthetic processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer.15
153160202004The transcription factor CCAAT-binding factor CBF/NF-Y and two repressors regulate the core promoter of the human pro-alpha3(V) collagen gene (COL5A3).2
151365782004Biosynthetic processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer.15
153160202004The transcription factor CCAAT-binding factor CBF/NF-Y and two repressors regulate the core promoter of the human pro-alpha3(V) collagen gene (COL5A3).2

Citation

Dessen P

COL5A3 (collagen type V alpha 3 chain)

Atlas Genet Cytogenet Oncol Haematol. 2014-01-01

Online version: http://atlasgeneticsoncology.org/gene/53918/teaching-explorer/gene-explorer/meetings/