ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)

2013-12-01  

Identity

HGNC
LOCATION
1q23.2
LOCUSID
ALIAS
FHM2,MHP2
FUSION GENES

Other Information

Locus ID:

NCBI: 477
MIM: 182340
HGNC: 800
Ensembl: ENSG00000018625

Variants:

dbSNP: 477
ClinVar: 477
TCGA: ENSG00000018625
COSMIC: ATP1A2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000018625ENST00000361216P50993
ENSG00000018625ENST00000361216A0A0S2Z3W6
ENSG00000018625ENST00000392233B1AKY9
ENSG00000018625ENST00000447527H0Y7C1

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Aldosterone-regulated sodium reabsorptionKEGGko04960
Aldosterone-regulated sodium reabsorptionKEGGhsa04960
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Gastric acid secretionKEGGko04971
Gastric acid secretionKEGGhsa04971
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Insulin secretionKEGGhsa04911
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Thyroid hormone signaling pathwayKEGGhsa04919
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA450688olanzapineChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
125390472003Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.147
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
129532682003Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.47
207205422010Neurological disease mutations compromise a C-terminal ion pathway in the Na(+)/K(+)-ATPase.37
187280152008Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.32
196383482009Isoform specificity of the Na/K-ATPase association and regulation by phospholemman.31
151594952004Variability of familial hemiplegic migraine with novel A1A2 Na+/K+-ATPase variants.29
189573712009The structure of the Na+,K+-ATPase and mapping of isoform differences and disease-related mutations.27
151740252004Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.24
190587852009Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders.24

Citation

Dessen P

ATP1A2 (ATPase Na+/K+ transporting subunit alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53630/atp1a2