Identity
HGNC
LOCATION
Xq22.3
LOCUSID
ALIAS
ASLN,ATS,ATS1,CA54
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1287
MIM: 303630
HGNC: 2207
Ensembl: ENSG00000188153
Variants:
dbSNP: 1287
ClinVar: 1287
TCGA: ENSG00000188153
COSMIC: COL4A5
RNA/Proteins
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38400605 | 2024 | Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. | 1 |
| 38433557 | 2024 | Genetic diagnosis of Alport syndrome in 16 Chinese families. | 1 |
| 38671472 | 2024 | A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family. | 0 |
| 38400605 | 2024 | Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay. | 1 |
| 38433557 | 2024 | Genetic diagnosis of Alport syndrome in 16 Chinese families. | 1 |
| 38671472 | 2024 | A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family. | 0 |
| 36130833 | 2023 | Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients. | 8 |
| 36371577 | 2023 | Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene. | 2 |
| 36484686 | 2023 | Type IV collagen α5 chain promotes luminal breast cancer progression through c-Myc-driven glycolysis. | 3 |
| 37402896 | 2023 | Collagen Type IV Alpha 5 Chain in Bronchiolitis Obliterans Syndrome After Lung Transplant: The First Evidence. | 0 |
| 37596645 | 2023 | Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome. | 0 |
| 37906141 | 2023 | [Genetic testing and prenatal diagnosis for two Chinese pedigrees affected with Alport syndrome due to variants of COL4A5 gene]. | 0 |
| 36130833 | 2023 | Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients. | 8 |
| 36371577 | 2023 | Aberrant splicing caused by exonic single nucleotide variants positioned 2nd or 3rd to the last nucleotide in the COL4A5 gene. | 2 |
| 36484686 | 2023 | Type 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/col4a5-(collagen-type-iv-alpha-5-chain)
