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
382144122024Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?1
382179722024The multifaceted roles of COL4A4 in lung adenocarcinoma: An integrated bioinformatics and experimental study.0
384335572024Genetic diagnosis of Alport syndrome in 16 Chinese families.1
382144122024Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4?1
382179722024The multifaceted roles of COL4A4 in lung adenocarcinoma: An integrated bioinformatics and experimental study.0
384335572024Genetic diagnosis of Alport syndrome in 16 Chinese families.1
361308332023Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.8
372044912023COL4A gene variants are common in children with hematuria and a family history of kidney disease.0
378952032023Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome.0
361308332023Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.8
372044912023COL4A gene variants are common in children with hematuria and a family history of kidney disease.0
378952032023Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome.0
336353782022Population-based studies reveal an additive role of type IV collagen variants in hematuria and albuminuria.10
350900272022Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?3
358425732022COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.0

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/favicon/gene-explorer/gene-fusions-explorer/