Details for: ATP1A2

Gene ID: 477

Symbol: ATP1A2

Ensembl ID: ENSG00000018625

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

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 4.07
    Marker Score: 2678
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 4.02
    Marker Score: 1951
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 3.52
    Marker Score: 4054
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 3.35
    Marker Score: 8397
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: 3.18
    Marker Score: 67786
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 2.98
    Marker Score: 871
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 2.73
    Marker Score: 61019
  • Cell Name: astrocyte (CL0000127)
    Fold Change: 2.51
    Marker Score: 2175
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 2.45
    Marker Score: 5382
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 2.02
    Marker Score: 7176
  • Cell Name: fat cell (CL0000136)
    Fold Change: 1.88
    Marker Score: 1052
  • Cell Name: neural progenitor cell (CL0011020)
    Fold Change: 1.79
    Marker Score: 6932
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.61
    Marker Score: 1169
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168788
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.46
    Marker Score: 1454
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 1.42
    Marker Score: 1520
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 1.34
    Marker Score: 1652
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 1.29
    Marker Score: 1607
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 1.29
    Marker Score: 406
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 1.26
    Marker Score: 855
  • Cell Name: Bergmann glial cell (CL0000644)
    Fold Change: 1.25
    Marker Score: 509
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 1.17
    Marker Score: 18341
  • Cell Name: subcutaneous fat cell (CL0002521)
    Fold Change: 1.15
    Marker Score: 422
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.15
    Marker Score: 4808
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.1
    Marker Score: 700
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 1.04
    Marker Score: 797
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.02
    Marker Score: 6754
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 1.01
    Marker Score: 419
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 1
    Marker Score: 544
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71814
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48038
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.99
    Marker Score: 509
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 0.98
    Marker Score: 937
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30408
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.98
    Marker Score: 463
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2412
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5349
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.94
    Marker Score: 375
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.93
    Marker Score: 426.5
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2741
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.91
    Marker Score: 327
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 0.9
    Marker Score: 254
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5286
  • Cell Name: neural cell (CL0002319)
    Fold Change: 0.85
    Marker Score: 411.5
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 0.79
    Marker Score: 602
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1261
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 708
  • Cell Name: bronchial smooth muscle cell (CL0002598)
    Fold Change: 0.77
    Marker Score: 218
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 398
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 0.76
    Marker Score: 539.5
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.75
    Marker Score: 804
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.75
    Marker Score: 1270
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.72
    Marker Score: 463
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.72
    Marker Score: 217
  • Cell Name: adipocyte of epicardial fat of left ventricle (CL1000311)
    Fold Change: 0.71
    Marker Score: 187.5
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.7
    Marker Score: 180
  • Cell Name: Unknown (CL0002371)
    Fold Change: 0.69
    Marker Score: 736
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.65
    Marker Score: 312
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.65
    Marker Score: 427
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.61
    Marker Score: 576
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.6
    Marker Score: 395
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 150
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.56
    Marker Score: 450
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 0.56
    Marker Score: 165
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.56
    Marker Score: 234
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.55
    Marker Score: 175
  • Cell Name: cerebellar granule cell precursor (CL0002362)
    Fold Change: 0.54
    Marker Score: 305
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.53
    Marker Score: 588
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.52
    Marker Score: 1060
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.49
    Marker Score: 4901
  • Cell Name: Schwann cell (CL0002573)
    Fold Change: 0.46
    Marker Score: 160
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 0.44
    Marker Score: 615
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.44
    Marker Score: 256
  • Cell Name: vascular associated smooth muscle cell (CL0000359)
    Fold Change: 0.41
    Marker Score: 190
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 0.41
    Marker Score: 117
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.41
    Marker Score: 25357
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.41
    Marker Score: 104
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.4
    Marker Score: 613
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.4
    Marker Score: 237
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.4
    Marker Score: 131
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.4
    Marker Score: 200
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.39
    Marker Score: 174
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.39
    Marker Score: 812
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.39
    Marker Score: 732.5
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 373
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.36
    Marker Score: 578
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.33
    Marker Score: 126
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 0.32
    Marker Score: 596
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.32
    Marker Score: 759
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 0.31
    Marker Score: 344
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.31
    Marker Score: 1849
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 0.31
    Marker Score: 1985
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.3
    Marker Score: 191
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 0.3
    Marker Score: 259
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 0.29
    Marker Score: 694
  • Cell Name: microglial cell (CL0000129)
    Fold Change: 0.29
    Marker Score: 536
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.29
    Marker Score: 675
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.27
    Marker Score: 111
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.27
    Marker Score: 2603
  • Cell Name: choroid plexus epithelial cell (CL0000706)
    Fold Change: 0.27
    Marker Score: 251

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Other Information

**Key characteristics:** - ATP1A2 is a multi-subunit protein that forms a pore in the plasma membrane, allowing the flow of sodium and potassium ions. - It is a calcium-independent, ligand-gated channel, meaning that its opening is dependent on changes in the concentration of calcium ions. - ATP1A2 is a key regulator of cardiac conduction, as it is expressed in the heart and is involved in the regulation of cardiac contractility. - It is also involved in disease processes such as sepsis and inflammation. **Pathways and functions:** - ATP1A2 is involved in the regulation of cardiac conduction by controlling the opening and closing of ion channels in the heart. - It is also involved in the regulation of blood pressure and fluid balance in the body. - It is involved in the regulation of inflammation and metabolism. - It is a potential therapeutic target for a variety of diseases, including sepsis and cardiac disease. **Clinical significance:** - Mutations in ATP1A2 have been linked to a number of human diseases, including sepsis, cardiac disease, and stroke. - Studies of ATP1A2 have shown that mutations in the gene can lead to the development of these diseases. - Development of drugs that target ATP1A2 has been investigated as a potential treatment for these diseases.

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:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 9 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 4 DrugCentral 1 EC 2 EMBL 11 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 71 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 11 KEGG 1 MANE-Select 1 MIM 9 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 NCBIfam 2 OMA 1 OpenTargets 1 Orphanet 3 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 5 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 1 SAM 1 SFLD 2 SMART 1 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniProtKB 4 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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

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. For the full schema, download it here.