COL4A5 (collagen type IV alpha 5 chain)

2007-02-01  

Identity

HGNC
LOCATION
Xq22.3
LOCUSID
ALIAS
ASLN,ATS,ATS1,CA54
FUSION GENES

Other Information

Locus ID:

NCBI: 1287
MIM: 303630
HGNC: 2207
Ensembl: ENSG00000188153

Variants:

dbSNP: 1287
ClinVar: 1287
TCGA: ENSG00000188153
COSMIC: COL4A5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000188153ENST00000328300P29400
ENSG00000188153ENST00000361603P29400
ENSG00000188153ENST00000483338Q49AM6
ENSG00000188153ENST00000504541H0Y9R8
ENSG00000188153ENST00000505728H0Y9H0
ENSG00000188153ENST00000515658H0Y998
ENSG00000188153ENST00000642185A0A2R8Y5W0

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Focal adhesionKEGGko04510
ECM-receptor interactionKEGGko04512
Small cell lung cancerKEGGko05222
Focal adhesionKEGGhsa04510
ECM-receptor interactionKEGGhsa04512
Pathways in cancerKEGGhsa05200
Small cell lung cancerKEGGhsa05222
AmoebiasisKEGGko05146
AmoebiasisKEGGhsa05146
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
AGE-RAGE signaling pathway in diabetic complicationsKEGGko04933
AGE-RAGE signaling pathway in diabetic complicationsKEGGhsa04933
Collagen chain trimerizationREACTOMER-HSA-8948216

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
145147382003X-linked Alport syndrome: natural history and genotype-phenotype correlations in girls and women belonging to 195 families: a "European Community Alport Syndrome Concerted Action" study.83
263461982016Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis.51
121052442002Meta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.47
203788212010Genotype-phenotype correlation in X-linked Alport syndrome.44
203788212010Genotype-phenotype correlation in X-linked Alport syndrome.44
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
153659902004Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders.31
240332872014Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases.30
255755502015Evidence of digenic inheritance in Alport syndrome.29

Citation

Dessen P

COL4A5 (collagen type IV alpha 5 chain)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46231/col4a5