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

2013-12-01  

Identity

HGNC
ATP1A2
LOCATION
1q23.2
LOCUSID
477
ALIAS
FHM2,MHP2
FUSION GENES
Show Gene Fusions

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
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
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
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
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447216SchizophreniaDiseaseClinicalAnnotationassociatedPD
PA450688olanzapineChemicalClinicalAnnotationassociatedPD

References

Pubmed IDYearTitleCitations
371425132023The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.0
371425132023The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients.0
352578352022Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases.0
352578352022Hemiplegic migraine type 2 with new mutation of the ATP1A2 gene in Japanese cases.0
334938072021Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.6
335782532021A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.3
337119272021Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.4
338805292021ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.21
340924022021Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant.0
343843582021Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.5
334938072021Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.6
335782532021A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients.3
337119272021Familial hemiplegic migraine type 2 due to a novel missense mutation in ATP1A2.4
338805292021ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.21
340924022021Hemiplegic migraine type 2 caused by a novel variant within the P-type ATPase motif in ATP1A2 concomitant with a CACNA1A variant.0

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/js/teaching-explorer/tumors-explorer/