COL4A6 (collagen type IV alpha 6 chain)

2003-12-01  

Identity

HGNC
LOCATION
Xq22.3
LOCUSID
ALIAS
CXDELq22.3,DELXq22.3,DFNX6
FUSION GENES

Other Information

Locus ID:

NCBI: 1288
MIM: 303631
HGNC: 2208
Ensembl: ENSG00000197565

Variants:

dbSNP: 1288
ClinVar: 1288
TCGA: ENSG00000197565
COSMIC: COL4A6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197565ENST00000334504Q14031
ENSG00000197565ENST00000372216Q14031
ENSG00000197565ENST00000394872A8MXH5
ENSG00000197565ENST00000538570F5H3Q5
ENSG00000197565ENST00000545689F5H851
ENSG00000197565ENST00000621266A0A087WZY5

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
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
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
206738682010A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).36
204524822010Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes.26
165079012006Loss of expression of type IV collagen alpha5 and alpha6 chains in colorectal cancer associated with the hypermethylation of their promoter region.19
180743492008Type IV collagen alpha6 chain-derived noncollagenous domain 1 (alpha6(IV)NC1) inhibits angiogenesis and tumor growth.19
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
236215802013Identification of new genes downregulated in prostate cancer and investigation of their effects on prognosis.9
268114942016Genetic alterations and their clinical implications in gastric cancer peritoneal carcinomatosis revealed by whole-exome sequencing of malignant ascites.9
194226822009Collagen mRNA levels changes during colorectal cancer carcinogenesis.8
179553022008The expression of type IV collagen alpha6 chain is related to the prognosis in patients with esophageal squamous cell carcinoma.6

Citation

Dessen P

COL4A6 (collagen type IV alpha 6 chain)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40127/col4a6