Identity
HGNC
LOCATION
7q34
LOCUSID
ALIAS
A4,ATP6N1B,ATP6N2,DRTA3,RDRTA2,RTA1C,RTADR,STV1,VPH1,VPP2
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: 50617
MIM: 605239
HGNC: 866
Ensembl: ENSG00000105929
Variants:
dbSNP: 50617
ClinVar: 50617
TCGA: ENSG00000105929
COSMIC: ATP6V0A4
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34157794 | 2021 | Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. | 8 |
| 34157794 | 2021 | Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. | 8 |
| 29024829 | 2018 | Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. | 7 |
| 30230413 | 2018 | Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. | 2 |
| 30256676 | 2018 | Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis. | 0 |
| 29024829 | 2018 | Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance. | 7 |
| 30230413 | 2018 | Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. | 2 |
| 30256676 | 2018 | Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis. | 0 |
| 28233610 | 2017 | The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. | 32 |
| 28233610 | 2017 | The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. | 32 |
| 25910425 | 2015 | Subcellular quantitative proteomic analysis reveals host proteins involved in human cytomegalovirus infection. | 5 |
| 25951193 | 2015 | The integral membrane protein ITM2A, a transcriptional target of PKA-CREB, regulates autophagic flux via interaction with the vacuolar ATPase. | 22 |
| 25910425 | 2015 | Subcellular quantitative proteomic analysis reveals host proteins involved in human cytomegalovirus infection. | 5 |
| 25951193 | 2015 | The integral membrane protein ITM2A, a transcriptional target of PKA-CREB, regulates autophagic flux via interaction with the vacuolar ATPase. | 22 |
| 22854161 | 2014 | Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis. | 1 |
Citation
Dessen P
ATP6V0A4 (ATPase H+ transporting V0 subunit a4)
Atlas Genet Cytogenet Oncol Haematol. 2009-09-01
Online version: http://atlasgeneticsoncology.org/gene/51128/atp6v0a4
