Identity
HGNC
LOCATION
12q24.31
LOCUSID
ALIAS
A2,ARCL,ARCL2A,ATP6A2,ATP6N1D,J6B7,RTF,STV1,TJ6,TJ6M,TJ6S,VPH1,WSS,a2V
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: 23545
MIM: 611716
HGNC: 18481
Ensembl: ENSG00000185344
Variants:
dbSNP: 23545
ClinVar: 23545
TCGA: ENSG00000185344
COSMIC: ATP6V0A2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38396846 | 2024 | The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa. | 0 |
| 38598037 | 2024 | Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa. | 0 |
| 38396846 | 2024 | The Human Mutation K237_V238del in a Putative Lipid Binding Motif within the V-ATPase a2 Isoform Suggests a Molecular Mechanism Underlying Cutis Laxa. | 0 |
| 38598037 | 2024 | Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa. | 0 |
| 37119015 | 2023 | Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families. | 0 |
| 37119015 | 2023 | Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families. | 0 |
| 31925882 | 2020 | Cancer-associated V-ATPase induces delayed apoptosis of protumorigenic neutrophils. | 9 |
| 31925882 | 2020 | Cancer-associated V-ATPase induces delayed apoptosis of protumorigenic neutrophils. | 9 |
| 29952037 | 2019 | ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. | 3 |
| 30474613 | 2019 | A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing. | 4 |
| 30550884 | 2019 | Proteomic analyses reveal lower expression of TEX40 and ATP6V0A2 proteins related to calcium ion entry and acrosomal acidification in asthenozoospermic males. | 9 |
| 29952037 | 2019 | ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype. | 3 |
| 30474613 | 2019 | A Novel ATP6V0A2 Mutation Causing Recessive Cutis Laxa with Unusual Manifestations of Bleeding Diathesis and Defective Wound Healing. | 4 |
| 30550884 | 2019 | Proteomic analyses reveal lower expression of TEX40 and ATP6V0A2 proteins related to calcium ion entry and acrosomal acidification in asthenozoospermic males. | 9 |
| 29311258 | 2018 | Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4. | 17 |
Citation
Dessen P
ATP6V0A2 (ATPase H+ transporting V0 subunit a2)
Atlas Genet Cytogenet Oncol Haematol. 2011-03-01
Online version: http://atlasgeneticsoncology.org/gene/52132/atp6v0a2
