Identity
HGNC
LOCATION
2q36.3
LOCUSID
ALIAS
ATS2,BFH,CA44
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: 1286
MIM: 120131
HGNC: 2206
Ensembl: ENSG00000081052
Variants:
dbSNP: 1286
ClinVar: 1286
TCGA: ENSG00000081052
COSMIC: COL4A4
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000081052 | ENST00000396625 | P53420 |
| ENSG00000081052 | ENST00000643379 | A0A2R8Y548 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38214412 | 2024 | Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? | 1 |
| 38217972 | 2024 | The multifaceted roles of COL4A4 in lung adenocarcinoma: An integrated bioinformatics and experimental study. | 0 |
| 38433557 | 2024 | Genetic diagnosis of Alport syndrome in 16 Chinese families. | 1 |
| 38214412 | 2024 | Is there a dominant-negative effect in individuals with heterozygous disease-causing variants in COL4A3/COL4A4? | 1 |
| 38217972 | 2024 | The multifaceted roles of COL4A4 in lung adenocarcinoma: An integrated bioinformatics and experimental study. | 0 |
| 38433557 | 2024 | Genetic diagnosis of Alport syndrome in 16 Chinese families. | 1 |
| 36130833 | 2023 | Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients. | 8 |
| 37204491 | 2023 | COL4A gene variants are common in children with hematuria and a family history of kidney disease. | 0 |
| 37895203 | 2023 | Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome. | 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 |
| 37204491 | 2023 | COL4A gene variants are common in children with hematuria and a family history of kidney disease. | 0 |
| 37895203 | 2023 | Potential Founder Variants in COL4A4 Identified in Bukharian Jews Linked to Autosomal Dominant and Autosomal Recessive Alport Syndrome. | 0 |
| 33635378 | 2022 | Population-based studies reveal an additive role of type IV collagen variants in hematuria and albuminuria. | 10 |
| 35090027 | 2022 | Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg? | 3 |
| 35842573 | 2022 | COL4A4 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/col4a4-(collagen-type-iv-alpha-4-chain)
