ATP6V0A4 (ATPase H+ transporting V0 subunit a4)

2009-09-01 Affiliation

Identity

HGNC

ATP6V0A4

LOCATION

7q34

LOCUSID

50617

ALIAS

A4,ATP6N1B,ATP6N2,DRTA3,RDRTA2,RTA1C,RTADR,STV1,VPH1,VPP2

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000105929	ENST00000310018	Q9HBG4
ENSG00000105929	ENST00000310018	A0A024R791
ENSG00000105929	ENST00000353492	Q9HBG4
ENSG00000105929	ENST00000353492	A0A024R791
ENSG00000105929	ENST00000393054	Q9HBG4
ENSG00000105929	ENST00000393054	A0A024R791
ENSG00000105929	ENST00000478480	A0A2R8YE46
ENSG00000105929	ENST00000483139	A0A2R8YGN5
ENSG00000105929	ENST00000644341	A0A2R8Y6X9
ENSG00000105929	ENST00000645515	Q9HBG4
ENSG00000105929	ENST00000645515	A0A024R791
ENSG00000105929	ENST00000647427	A0A2R8Y7G6

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Vibrio cholerae infection	KEGG	ko05110
Epithelial cell signaling in Helicobacter pylori infection	KEGG	ko05120
Oxidative phosphorylation	KEGG	hsa00190
Vibrio cholerae infection	KEGG	hsa05110
Epithelial cell signaling in Helicobacter pylori infection	KEGG	hsa05120
Lysosome	KEGG	ko04142
Lysosome	KEGG	hsa04142
Metabolic pathways	KEGG	hsa01100
Collecting duct acid secretion	KEGG	ko04966
Collecting duct acid secretion	KEGG	hsa04966
Phagosome	KEGG	ko04145
Phagosome	KEGG	hsa04145
Rheumatoid arthritis	KEGG	ko05323
Rheumatoid arthritis	KEGG	hsa05323
Tuberculosis	KEGG	ko05152
Tuberculosis	KEGG	hsa05152
Synaptic vesicle cycle	KEGG	ko04721
Synaptic vesicle cycle	KEGG	hsa04721
V-type ATPase, eukaryotes	KEGG	hsa_M00160
V-type ATPase, eukaryotes	KEGG	M00160
ROS, RNS production in phagocytes	REACTOME	R-HSA-1222556
Immune System	REACTOME	R-HSA-168256
Innate Immune System	REACTOME	R-HSA-168249
Signal Transduction	REACTOME	R-HSA-162582
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor recycling	REACTOME	R-HSA-77387
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Iron uptake and transport	REACTOME	R-HSA-917937
Transferrin endocytosis and recycling	REACTOME	R-HSA-917977
Ion channel transport	REACTOME	R-HSA-983712

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/deep-insight-explorer/