ATP12A (ATPase H+/K+ transporting non-gastric alpha2 subunit)

2007-02-01  

Identity

HGNC
ATP12A
LOCATION
13q12.12
LOCUSID
479
ALIAS
ATP1AL1,H-K-ATPase,HK
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 479
MIM: 182360
HGNC: 13816
Ensembl: ENSG00000075673

Variants:

dbSNP: 479
ClinVar: 479
TCGA: ENSG00000075673
COSMIC: ATP12A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000075673ENST00000218548P54707
ENSG00000075673ENST00000381946P54707

Expression (GTEx)

0
1
2
3
4
5
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

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Oxidative phosphorylationKEGGhsa00190
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
293914512018ATP12A promotes mucus dysfunction during Type 2 airway inflammation.26
303333102018Increased expression of ATP12A proton pump in cystic fibrosis airways.35
293914512018ATP12A promotes mucus dysfunction during Type 2 airway inflammation.26
303333102018Increased expression of ATP12A proton pump in cystic fibrosis airways.35
268234282016Airway acidification initiates host defense abnormalities in cystic fibrosis mice.174
268234282016Airway acidification initiates host defense abnormalities in cystic fibrosis mice.174
253662622014Left ventricular diastolic function associated with common genetic variation in ATP12A in a general population.1
253662622014Left ventricular diastolic function associated with common genetic variation in ATP12A in a general population.1
221790162011Expression of the non-gastric H+/K+ ATPase ATP12A in normal and pathological human prostate tissue.9
221790162011Expression of the non-gastric H+/K+ ATPase ATP12A in normal and pathological human prostate tissue.9
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
194879572009Inhibition of the alpha1beta1 isoform of the Na, K-ATPase by 8-methoxycoumestrol without positive inotropic effect in human myocardium--novel aspects of cardiac glycoside pharmacology.0
196944092009A C-terminal lobe of the beta subunit of Na,K-ATPase and H,K-ATPase resembles cell adhesion molecules.14
194879572009Inhibition of the alpha1beta1 isoform of the Na, K-ATPase by 8-methoxycoumestrol without positive inotropic effect in human myocardium--novel aspects of cardiac glycoside pharmacology.0

Citation

Dessen P

ATP12A (ATPase H+/K+ transporting non-gastric alpha2 subunit)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46088/gene-explorer/case-report-explorer/favicon/favicon-16x16.png