ATP1A2 | ENSG00000018625 | NCBI 477

Details for: ATP1A2

Gene ID: 477

Symbol: ATP1A2

Ensembl ID: ENSG00000018625

Description: ATPase Na+/K+ transporting subunit alpha 2

Associated with

Cardiac conduction
(R-HSA-5576891)
Disease
(R-HSA-1643685)
Infectious disease
(R-HSA-5663205)
Ion channel transport
(R-HSA-983712)
Ion homeostasis
(R-HSA-5578775)
Ion transport by p-type atpases
(R-HSA-936837)
Muscle contraction
(R-HSA-397014)
Potential therapeutics for sars
(R-HSA-9679191)
Sars-cov infections
(R-HSA-9679506)
Transport of small molecules
(R-HSA-382551)
Viral infection pathways
(R-HSA-9824446)
Adult locomotory behavior
(GO:0008344)
Amygdala development
(GO:0021764)
Atpase-coupled monoatomic cation transmembrane transporter activity
(GO:0019829)
Atp binding
(GO:0005524)
Atp hydrolysis activity
(GO:0016887)
Atp metabolic process
(GO:0046034)
Behavioral fear response
(GO:0001662)
Cardiac muscle contraction
(GO:0060048)
Caveola
(GO:0005901)
Cell communication by electrical coupling involved in cardiac conduction
(GO:0086064)
Cell projection
(GO:0042995)
Cellular response to mechanical stimulus
(GO:0071260)
Cellular response to steroid hormone stimulus
(GO:0071383)
Cytoplasm
(GO:0005737)
Endosome
(GO:0005768)
Establishment or maintenance of transmembrane electrochemical gradient
(GO:0010248)
Intercalated disc
(GO:0014704)
Intracellular potassium ion homeostasis
(GO:0030007)
Intracellular sodium ion homeostasis
(GO:0006883)
Locomotion
(GO:0040011)
Locomotory exploration behavior
(GO:0035641)
Membrane
(GO:0016020)
Membrane depolarization during cardiac muscle cell action potential
(GO:0086012)
Membrane repolarization
(GO:0086009)
Monoatomic cation transmembrane transport
(GO:0098655)
Negative regulation of calcium:sodium antiporter activity
(GO:1903280)
Negative regulation of calcium ion transmembrane transport
(GO:1903170)
Negative regulation of cytosolic calcium ion concentration
(GO:0051481)
Negative regulation of heart contraction
(GO:0045822)
Negative regulation of striated muscle contraction
(GO:0045988)
Neuronal cell body
(GO:0043025)
Neurotransmitter uptake
(GO:0001504)
Olfactory cortex development
(GO:0021989)
Organelle membrane
(GO:0031090)
P-type sodium:potassium-exchanging transporter activity
(GO:0005391)
Phosphatase activity
(GO:0016791)
Plasma membrane
(GO:0005886)
Positive regulation of heart contraction
(GO:0045823)
Potassium ion binding
(GO:0030955)
Potassium ion import across plasma membrane
(GO:1990573)
Potassium ion transmembrane transport
(GO:0071805)
Potassium ion transport
(GO:0006813)
Protein-folding chaperone binding
(GO:0051087)
Protein binding
(GO:0005515)
Protein heterodimerization activity
(GO:0046982)
Proton transmembrane transport
(GO:1902600)
Regulation of blood pressure
(GO:0008217)
Regulation of cardiac muscle cell contraction
(GO:0086004)
Regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
(GO:0010881)
Regulation of glutamate uptake involved in transmission of nerve impulse
(GO:0051946)
Regulation of muscle contraction
(GO:0006937)
Regulation of respiratory gaseous exchange by nervous system process
(GO:0002087)
Regulation of smooth muscle contraction
(GO:0006940)
Regulation of striated muscle contraction
(GO:0006942)
Regulation of synaptic transmission, glutamatergic
(GO:0051966)
Regulation of the force of heart contraction
(GO:0002026)
Regulation of vasoconstriction
(GO:0019229)
Relaxation of cardiac muscle
(GO:0055119)
Response to auditory stimulus
(GO:0010996)
Response to glycoside
(GO:1903416)
Response to nicotine
(GO:0035094)
Sodium:potassium-exchanging atpase complex
(GO:0005890)
Sodium ion binding
(GO:0031402)
Sodium ion export across plasma membrane
(GO:0036376)
Sodium ion transmembrane transport
(GO:0035725)
Sodium ion transport
(GO:0006814)
Steroid binding
(GO:0005496)
Steroid hormone binding
(GO:1990239)
T-tubule
(GO:0030315)
Transport across blood-brain barrier
(GO:0150104)
Visual learning
(GO:0008542)

Other Information

Proteins

Sodium/potassium-transporting ATPase subunit alpha-2

Genular Protein ID: 1273068790

Symbol: AT1A2_HUMAN

Name: Sodium/potassium-transporting ATPase subunit alpha-2

UniProtKB Accession Codes:

P50993 D3DVE4 Q07059 Q5JW74 Q86UZ5 Q9UQ25

Database IDs:

Citations:

PubMed ID: 2477373

Title: Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms.

PubMed ID: 2477373

DOI: 10.1016/s0021-9258(18)71525-1

PubMed ID: 9872452

Title: Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 9872452

DOI: 10.1093/dnares/5.5.277

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3035563

Title: Multiple genes encode the human Na+,K+-ATPase catalytic subunit.

PubMed ID: 3035563

DOI: 10.1073/pnas.84.12.4039

PubMed ID: 3036582

Title: The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit.

PubMed ID: 3036582

DOI: 10.1016/0014-5793(87)80677-4

PubMed ID: 2537767

Title: Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene.

PubMed ID: 2537767

DOI: 10.1016/0014-5793(89)80588-5

PubMed ID: 7711835

Title: Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle.

PubMed ID: 7711835

DOI: 10.3109/09687689409160435

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 12953268

Title: Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions.

PubMed ID: 12953268

DOI: 10.1002/ana.10674

PubMed ID: 12539047

Title: Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2.

PubMed ID: 12539047

DOI: 10.1038/ng1081

PubMed ID: 15174025

Title: Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation.

PubMed ID: 15174025

DOI: 10.1002/ana.20134

PubMed ID: 21352219

Title: Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation.

PubMed ID: 21352219

DOI: 10.1111/j.1526-4610.2010.01793.x

PubMed ID: 23838748

Title: Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

PubMed ID: 23838748

DOI: 10.1177/0333102413495116

PubMed ID: 23918834

Title: A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy.

PubMed ID: 23918834

DOI: 10.1177/0333102413498941

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 31608932

Title: A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.

PubMed ID: 31608932

DOI: 10.1093/brain/awz272

PubMed ID: 30690204

Title: Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

PubMed ID: 30690204

DOI: 10.1016/j.ejmg.2019.01.014

PubMed ID: 33880529

Title: ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

PubMed ID: 33880529

DOI: 10.1093/brain/awab052

Sequence Information:

Length: 1020
Mass: 112265
Checksum: AFBD8EA94FFB4FC3
Sequence:

MGRGAGREYS PAATTAENGG GKKKQKEKEL DELKKEVAMD DHKLSLDELG RKYQVDLSKG 
LTNQRAQDVL ARDGPNALTP PPTTPEWVKF CRQLFGGFSI LLWIGAILCF LAYGIQAAME 
DEPSNDNLYL GVVLAAVVIV TGCFSYYQEA KSSKIMDSFK NMVPQQALVI REGEKMQINA 
EEVVVGDLVE VKGGDRVPAD LRIISSHGCK VDNSSLTGES EPQTRSPEFT HENPLETRNI 
CFFSTNCVEG TARGIVIATG DRTVMGRIAT LASGLEVGRT PIAMEIEHFI QLITGVAVFL 
GVSFFVLSLI LGYSWLEAVI FLIGIIVANV PEGLLATVTV CLTLTAKRMA RKNCLVKNLE 
AVETLGSTST ICSDKTGTLT QNRMTVAHMW FDNQIHEADT TEDQSGATFD KRSPTWTALS 
RIAGLCNRAV FKAGQENISV SKRDTAGDAS ESALLKCIEL SCGSVRKMRD RNPKVAEIPF 
NSTNKYQLSI HEREDSPQSH VLVMKGAPER ILDRCSTILV QGKEIPLDKE MQDAFQNAYM 
ELGGLGERVL GFCQLNLPSG KFPRGFKFDT DELNFPTEKL CFVGLMSMID PPRAAVPDAV 
GKCRSAGIKV IMVTGDHPIT AKAIAKGVGI ISEGNETVED IAARLNIPMS QVNPREAKAC 
VVHGSDLKDM TSEQLDEILK NHTEIVFART SPQQKLIIVE GCQRQGAIVA VTGDGVNDSP 
ALKKADIGIA MGISGSDVSK QAADMILLDD NFASIVTGVE EGRLIFDNLK KSIAYTLTSN 
IPEITPFLLF IIANIPLPLG TVTILCIDLG TDMVPAISLA YEAAESDIMK RQPRNSQTDK 
LVNERLISMA YGQIGMIQAL GGFFTYFVIL AENGFLPSRL LGIRLDWDDR TMNDLEDSYG 
QEWTYEQRKV VEFTCHTAFF ASIVVVQWAD LIICKTRRNS VFQQGMKNKI LIFGLLEETA 
LAAFLSYCPG MGVALRMYPL KVTWWFCAFP YSLLIFIYDE VRKLILRRYP GGWVEKETYY

The gene details are incomplete or unavailable at the moment.

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.

Details for: ATP1A2

Associated with

Other Information

Characterization of the human Na,K-ATPase alpha 2 gene and identification of intragenic restriction fragment length polymorphisms. PubMed ID: 2477373

Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. PubMed ID: 9872452

The DNA sequence and biological annotation of human chromosome 1. PubMed ID: 16710414

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). PubMed ID: 15489334

Multiple genes encode the human Na+,K+-ATPase catalytic subunit. PubMed ID: 3035563

The family of human Na+,K+-ATPase genes. No less than five genes and/or pseudogenes related to the alpha-subunit. PubMed ID: 3036582

Family of human Na+,K+-ATPase genes. Structure of the putative regulatory region of the alpha+-gene. PubMed ID: 2537767

Subcellular distribution and immunocytochemical localization of Na,K-ATPase subunit isoforms in human skeletal muscle. PubMed ID: 7711835

A quantitative atlas of mitotic phosphorylation. PubMed ID: 18669648

Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. PubMed ID: 12953268

Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. PubMed ID: 12539047

Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. PubMed ID: 15174025

Prolonged sporadic hemiplegic migraine associated with a novel de novo missense ATP1A2 gene mutation. PubMed ID: 21352219

Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy. PubMed ID: 23838748

A novel ATP1A2 gene mutation in familial hemiplegic migraine and epilepsy. PubMed ID: 23918834

Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes. PubMed ID: 27864847

A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants. PubMed ID: 31608932

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. PubMed ID: 30690204

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria. PubMed ID: 33880529