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: 1285
MIM: 120070
HGNC: 2204
Ensembl: ENSG00000169031
Variants:
dbSNP: 1285
ClinVar: 1285
TCGA: ENSG00000169031
COSMIC: COL4A3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000169031 | ENST00000304990 | H7BXM4 |
| ENSG00000169031 | ENST00000396578 | Q01955 |
| ENSG00000169031 | ENST00000469504 | A0A2R8Y2F0 |
| ENSG00000169031 | ENST00000643388 | A0A2R8Y6E5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
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 |
| 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 |
| 38433557 | 2024 | Genetic diagnosis of Alport syndrome in 16 Chinese families. | 1 |
| 35759000 | 2023 | Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood. | 1 |
| 35880347 | 2023 | Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population. | 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 |
| 37986374 | 2023 | Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports. | 0 |
| 35759000 | 2023 | Variants in genes coding for collagen type IV α-chains are frequent causes of persistent, isolated hematuria during childhood. | 1 |
| 35880347 | 2023 | Clinical and histopathological characteristics of COL4A3 c.2881+1G>A variant causing Alport spectrum disorders in Croatian population. | 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 |
| 37986374 | 2023 | Pregnancy in women with autosomal recessive Alport syndrome caused by novel compound heterozygous mutations of COL4A3 gene: Two cases reports. | 0 |
| 34888854 | 2022 | Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants. | 0 |
| 34930753 | 2022 | Guidelines for Genetic Testing and Management of Alport Syndrome. | 41 |
| 35090027 | 2022 | Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg? | 3 |
Citation
Dessen P
COL4A3 (collagen type IV alpha 3 chain)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/40126/col4a3-(collagen-type-iv-alpha-3-chain)
