COL4A4 (collagen type IV alpha 4 chain)

2016-03-01  

Identity

HGNC
COL4A4
LOCATION
2q36.3
LOCUSID
1286
ALIAS
ATS2,BFH,CA44
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1286
MIM: 120131
HGNC: 2206
Ensembl: ENSG00000081052

Variants:

dbSNP: 1286
ClinVar: 1286
TCGA: ENSG00000081052
COSMIC: COL4A4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000081052ENST00000396625P53420
ENSG00000081052ENST00000643379A0A2R8Y548

Expression (GTEx)

0
5
10
15
20
25
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
Integrin cell surface interactionsREACTOMER-HSA-216083
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
179429532007COL4A3/COL4A4 mutations producing focal segmental glomerulosclerosis and renal failure in thin basement membrane nephropathy.61
193571122009Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosis.46
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
120284352002COL4A3/COL4A4 mutations: from familial hematuria to autosomal-dominant or recessive Alport syndrome.34
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
200296562009Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.28
200296562009Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus.28
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.27

Citation

Dessen P

COL4A4 (collagen type IV alpha 4 chain)

Atlas Genet Cytogenet Oncol Haematol. 2016-03-01

Online version: http://atlasgeneticsoncology.org/gene/55668/col4a4-(collagen-type-iv-alpha-4-chain)