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)
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 entry 121 - 121 of 121 in total
DO ID Disease Name Source
DOID:9923 developmental coordination disorder
The Human Phenotype Ontology
Displaying entries 101 - 110 of 114 in total
HPO ID HPO Term
HP:0008947 Infantile muscular hypotonia
HP:0009004 Hypoplasia of the musculature
HP:0009125 Lipodystrophy
HP:0010719 Abnormality of hair texture
HP:0010838 High nonceruloplasmin-bound serum copper
HP:0010989 Abnormality of the intrinsic pathway
HP:0011003 High myopia
HP:0011623 Muscular ventricular septal defect
HP:0011800 Midface retrusion
HP:0011968 Feeding difficulties
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