• Gene id: 477

Gene Summary

• Gene Symbol: ATP1A2   Gene   UCSC   Ensembl
• Aliases: FHM2, MHP2
• Gene name: ATPase Na+/K+ transporting subunit alpha 2
• Alternate names: sodium/potassium-transporting ATPase subunit alpha-2, ATPase Na+/K+ transporting alpha 2 polypeptide, Na(+)/K(+) ATPase alpha-2 subunit, Na+/K+ ATPase, alpha-A(+) catalytic polypeptide, Na+/K+ ATPase, alpha-B polypeptide, sodium pump subunit alpha-2, sodium-pot,
• Gene location: 1q23.2 (160115758: 160143590)     Exons: 11     NC_000001.11
• Gene summary(Entrez): The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients o
• OMIM: 182340

SNPs

rs13181

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000019.10   g.45351661T>A
NC_000019.10   g.45351661T>G
NC_000019.9   g.45854919T>A
NC_000019.9   g.45854919T>G
NG_007067.2   g.23927A>T
NG_007067.2   g.23927A>C
NM_000400.4   c.2251A>T
NM_000400.4   c.2251A>C
NM_000400.3   c.2251A>T
NM_000400.3   c.2251A>C
XM_0115266  

Protein Summary

• Protein general information: P50993  
  • Name: Sodium/potassium transporting ATPase subunit alpha 2 (Na(+)/K(+) ATPase alpha 2 subunit) (EC 7.2.2.13) (Sodium pump subunit alpha 2)
  • Length: 1020  
  • Mass: 112265
• Sequence:

  MGRGAGREYSPAATTAENGGGKKKQKEKELDELKKEVAMDDHKLSLDELGRKYQVDLSKGLTNQRAQDVLARDGP
  NALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAYGIQAAMEDEPSNDNLYLGVVLAAVVIVTGCFSYYQEA
  KSSKIMDSFKNMVPQQALVIREGEKMQINAEEVVVGDLVEVKGGDRVPADLRIISSHGCKVDNSSLTGESEPQTR
  SPEFTHENPLETRNICFFSTNCVEGTARGIVIATGDRTVMGRIATLASGLEVGRTPIAMEIEHFIQLITGVAVFL
  GVSFFVLSLILGYSWLEAVIFLIGIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDK
  TGTLTQNRMTVAHMWFDNQIHEADTTEDQSGATFDKRSPTWTALSRIAGLCNRAVFKAGQENISVSKRDTAGDAS
  ESALLKCIELSCGSVRKMRDRNPKVAEIPFNSTNKYQLSIHEREDSPQSHVLVMKGAPERILDRCSTILVQGKEI
  PLDKEMQDAFQNAYMELGGLGERVLGFCQLNLPSGKFPRGFKFDTDELNFPTEKLCFVGLMSMIDPPRAAVPDAV
  GKCRSAGIKVIMVTGDHPITAKAIAKGVGIISEGNETVEDIAARLNIPMSQVNPREAKACVVHGSDLKDMTSEQL
  DEILKNHTEIVFARTSPQQKLIIVEGCQRQGAIVAVTGDGVNDSPALKKADIGIAMGISGSDVSKQAADMILLDD
  NFASIVTGVEEGRLIFDNLKKSIAYTLTSNIPEITPFLLFIIANIPLPLGTVTILCIDLGTDMVPAISLAYEAAE
  SDIMKRQPRNSQTDKLVNERLISMAYGQIGMIQALGGFFTYFVILAENGFLPSRLLGIRLDWDDRTMNDLEDSYG
  QEWTYEQRKVVEFTCHTAFFASIVVVQWADLIICKTRRNSVFQQGMKNKILIFGLLEETALAAFLSYCPGMGVAL
  RMYPLKVTWWFCAFPYSLLIFIYDEVRKLILRRYPGGWVEKETYY

• Structural information:
  • Interpro: IPR006068  IPR004014  IPR023299  IPR018303  IPR023298   IPR008250  IPR036412  IPR023214  IPR005775  IPR001757  
  • Prosite: PS00154
  • CDD: cd02608
  • STRING: ENSP00000354490
• Other Databases: GeneCards:  ATP1A2  Malacards:  ATP1A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0098655	cation transmembrane transport	IDA	biological process
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IDA	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IGI	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IGI	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IGI	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	ISS	molecular function
GO:0016791	phosphatase activity	ISS	molecular function
GO:0006937	regulation of muscle contraction	ISS	biological process
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IGI	molecular function
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IGI	molecular function
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0098655	cation transmembrane transport	IGI	biological process
GO:0035641	locomotory exploration behavior	ISS	biological process
GO:0035725	sodium ion transmembrane transport	IGI	biological process
GO:0030315	T-tubule	IGI	cellular component
GO:0042995	cell projection	ISS	cellular component
GO:0042995	cell projection	ISS	cellular component
GO:0150104	transport across blood-brain barrier	NAS	biological process
GO:0010996	response to auditory stimulus	ISS	biological process
GO:0002087	regulation of respiratory gaseous exchange by nervous system process	ISS	biological process
GO:0045822	negative regulation of heart contraction	ISS	biological process
GO:0001662	behavioral fear response	ISS	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	IGI	cellular component
GO:0005886	plasma membrane	IGI	cellular component
GO:0005886	plasma membrane	IGI	cellular component
GO:0016020	membrane	ISS	cellular component
GO:0031090	organelle membrane	IGI	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0043025	neuronal cell body	ISS	cellular component
GO:0040011	locomotion	ISS	biological process
GO:0002026	regulation of the force of heart contraction	ISS	biological process
GO:0002026	regulation of the force of heart contraction	ISS	biological process
GO:0001504	neurotransmitter uptake	ISS	biological process
GO:0045823	positive regulation of heart contraction	ISS	biological process
GO:0051481	negative regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0021989	olfactory cortex development	ISS	biological process
GO:0071805	potassium ion transmembrane transport	IGI	biological process
GO:0021764	amygdala development	ISS	biological process
GO:1902600	proton transmembrane transport	IBA	biological process
GO:0036376	sodium ion export across plasma membrane	IBA	biological process
GO:0006883	cellular sodium ion homeostasis	IBA	biological process
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0030007	cellular potassium ion homeostasis	IBA	biological process
GO:0005391	sodium:potassium-exchanging ATPase activity	IBA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0008556	potassium transmembrane transporter activity, phosphorylative mechanism	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0006813	potassium ion transport	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0001662	behavioral fear response	IEA	biological process
GO:0002087	regulation of respiratory gaseous exchange by nervous system process	IEA	biological process
GO:0006937	regulation of muscle contraction	IEA	biological process
GO:0006940	regulation of smooth muscle contraction	IEA	biological process
GO:0008217	regulation of blood pressure	IEA	biological process
GO:0008344	adult locomotory behavior	IEA	biological process
GO:0010996	response to auditory stimulus	IEA	biological process
GO:0030315	T-tubule	IEA	cellular component
GO:0035641	locomotory exploration behavior	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0045822	negative regulation of heart contraction	IEA	biological process
GO:1903416	response to glycoside	IEA	biological process
GO:0005768	endosome	IEA	cellular component
GO:0005901	caveola	IEA	cellular component
GO:0006814	sodium ion transport	IEA	biological process
GO:0014704	intercalated disc	IEA	cellular component
GO:0030315	T-tubule	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:1902600	proton transmembrane transport	IEA	biological process
GO:1903416	response to glycoside	IEA	biological process
GO:0001504	neurotransmitter uptake	IEA	biological process
GO:0002026	regulation of the force of heart contraction	IEA	biological process
GO:0006942	regulation of striated muscle contraction	IEA	biological process
GO:0008542	visual learning	IEA	biological process
GO:0019229	regulation of vasoconstriction	IEA	biological process
GO:0021764	amygdala development	IEA	biological process
GO:0021989	olfactory cortex development	IEA	biological process
GO:0040011	locomotion	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0045988	negative regulation of striated muscle contraction	IEA	biological process
GO:0051481	negative regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0071383	cellular response to steroid hormone stimulus	IEA	biological process
GO:0005391	sodium:potassium-exchanging ATPase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005890	sodium:potassium-exchanging ATPase complex	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0019829	ATPase-coupled cation transmembrane transporter activity	IEA	molecular function
GO:0035094	response to nicotine	IEA	biological process
GO:0042383	sarcolemma	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0071260	cellular response to mechanical stimulus	IEA	biological process
GO:0071383	cellular response to steroid hormone stimulus	IEA	biological process
GO:0086004	regulation of cardiac muscle cell contraction	IEA	biological process
GO:1903170	negative regulation of calcium ion transmembrane transport	IEA	biological process
GO:1903280	negative regulation of calcium:sodium antiporter activity	IEA	biological process
GO:1990239	steroid hormone binding	IEA	molecular function
GO:0005391	sodium:potassium-exchanging ATPase activity	IDA	molecular function
GO:0031402	sodium ion binding	IMP	contributes to
GO:0030955	potassium ion binding	IMP	contributes to
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0051087	chaperone binding	IPI	molecular function
GO:0008144	drug binding	IPI	contributes to
GO:0016887	ATPase activity	IMP	contributes to
GO:0005524	ATP binding	IMP	contributes to
GO:0005391	sodium:potassium-exchanging ATPase activity	IMP	contributes to
GO:0005515	protein binding	IPI	molecular function
GO:0006883	cellular sodium ion homeostasis	IDA	biological process
GO:0036376	sodium ion export across plasma membrane	IDA	biological process
GO:1990573	potassium ion import across plasma membrane	IDA	biological process
GO:0030007	cellular potassium ion homeostasis	IDA	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	IDA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	IDA	cellular component
GO:1990573	potassium ion import across plasma membrane	IC	biological process
GO:0030007	cellular potassium ion homeostasis	IC	biological process
GO:0046034	ATP metabolic process	IMP	biological process
GO:0051946	regulation of glutamate uptake involved in transmission of nerve impulse	NAS	biological process
GO:1990239	steroid hormone binding	IDA	molecular function
GO:0086064	cell communication by electrical coupling involved in cardiac conduction	TAS	biological process
GO:0051966	regulation of synaptic transmission, glutamatergic	NAS	biological process
GO:0086009	membrane repolarization	TAS	biological process
GO:1903416	response to glycoside	IC	biological process
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	TAS	biological process
GO:0086012	membrane depolarization during cardiac muscle cell action potential	TAS	biological process
GO:0071383	cellular response to steroid hormone stimulus	IDA	biological process
GO:0060048	cardiac muscle contraction	TAS	biological process
GO:0055119	relaxation of cardiac muscle	TAS	biological process
GO:1903416	response to glycoside	ISS	biological process
GO:1903170	negative regulation of calcium ion transmembrane transport	ISS	biological process
GO:1903280	negative regulation of calcium:sodium antiporter activity	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0016311	dephosphorylation	IEA	biological process
GO:0005886	plasma membrane	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005890	sodium:potassium-exchanging ATPase complex	IC	cellular component
GO:1903561	extracellular vesicle	HDA	cellular component
GO:0006942	regulation of striated muscle contraction	NAS	biological process
GO:0006814	sodium ion transport	NAS	biological process
GO:0006813	potassium ion transport	NAS	biological process
GO:0005391	sodium:potassium-exchanging ATPase activity	IMP	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04919	Thyroid hormone signaling pathway
hsa04974	Protein digestion and absorption
hsa04260	Cardiac muscle contraction
hsa04925	Aldosterone synthesis and secretion
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04911	Insulin secretion
hsa04971	Gastric acid secretion
hsa04918	Thyroid hormone synthesis
hsa04978	Mineral absorption
hsa04976	Bile secretion
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04973	Carbohydrate digestion and absorption
hsa04960	Aldosterone-regulated sodium reabsorption
hsa04964	Proximal tubule bicarbonate reclamation

Diseases

Associated diseases	References
Hemiplegic migraine	KEGG:H00775
Alternating hemiplegia of childhood	KEGG:H00998
Hemiplegic migraine	KEGG:H00775
Alternating hemiplegia of childhood	KEGG:H00998
migraine with aura	PMID:12953268
Hypertension	PMID:11257061
Benign neonatal seizures	PMID:12953268
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq