COL4A5 (collagen type IV alpha 5 chain)

2007-02-01  

Identity

HGNC
COL4A5
LOCATION
Xq22.3
LOCUSID
1287
ALIAS
ASLN,ATS,ATS1,CA54
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
384006052024Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.1
384335572024Genetic diagnosis of Alport syndrome in 16 Chinese families.1
386714722024A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.0
384006052024Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay.1
384335572024Genetic diagnosis of Alport syndrome in 16 Chinese families.1
386714722024A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.0
361308332023Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.8
363715772023Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.2
364846862023Type IV collagen α5 chain promotes luminal breast cancer progression through c-Myc-driven glycolysis.3
374028962023Collagen Type IV Alpha 5 Chain in Bronchiolitis Obliterans Syndrome After Lung Transplant: The First Evidence.0
375966452023Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome.0
379061412023[Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene].0
361308332023Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.8
363715772023Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene.2
364846862023Type IV collagen α5 chain promotes luminal breast cancer progression through c-Myc-driven glycolysis.3

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/js/js/lib/zoomerang.js