ATPase H+ transporting V0 subunit a2

Summary
Gene Symbol
  • ATP6V0A2
Aliases
  • ATP6N1D
  • ATP6a2
  • J6B7
  • RTF
  • Stv1
  • TJ6
  • TJ6M
  • TJ6s
  • V-ATPase subunit a2
  • V-type proton ATPase 116 kDa subunit a2
  • Vph1
  • a2
  • a2V
  • infantile malignant osteopetrosis
  • regeneration and tolerance factor
Organism
Homo sapiens (human)
External Links
NCBI Gene
23545
HGNC
18481
KEGG Gene ID
hsa:23545
PubChem
23545
Alliance of Genome Resources
Annotation
Keyword
  • Cell membrane
  • Endosome
  • Glycoprotein
  • Hydrogen ion transport
  • Phosphoprotein
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9Y487
  • Lysosomal H(+)-transporting ATPase V0 subunit a 2
  • TJ6
  • Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2
Gene Ontology (GO)
Displaying entries 6 - 7 of 7 in total
GO Term Evidence Code PMID
proton transmembrane transport
cellular response to increased oxygen levels
GO Hierarchy
GO Hierarchy
GO Hierarchy
Human Protein Atlas
ENSG00000185344

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K02154
Name
V-type H+-transporting ATPase subunit a
References
Disease
Disease Ontology
Displaying entries 61 - 70 of 121 in total
DO ID Disease Name Source
DOID:10941 intracranial aneurysm
DOID:11383 cryptorchidism
DOID:11712 lipoatrophic diabetes mellitus
DOID:11830 myopia
DOID:11832 visual epilepsy
DOID:11836 clubfoot
DOID:12053 cryptococcosis
DOID:1222 cartilage disease
DOID:12336 male infertility
DOID:12347 osteogenesis imperfecta
The Human Phenotype Ontology
Displaying entries 31 - 40 of 114 in total
HPO ID HPO Term
HP:0000973 Cutis laxa
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001252 Hypotonia
HP:0001257 Spasticity
HP:0001263 Global developmental delay
HP:0001270 Motor delay
HP:0001290 Generalized hypotonia
HP:0001302 Pachygyria
HP:0001305 Dandy-Walker malformation
Displaying all 4 entries
Disease ID Disease Name
OMIM:219200
  • autosomal recessive cutis laxa type 2A
ORPHA:357074
  • autosomal recessive cutis laxa type 2, classic type
OMIM:278250
  • wrinkly skin syndrome
ORPHA:2834
  • wrinkly skin syndrome

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024