Human Gene ATP1A2 (ENST00000361216.8)
  Description: Homo sapiens ATPase Na+/K+ transporting subunit alpha 2 (ATP1A2), mRNA. (from RefSeq NM_000702)
RefSeq Summary (NM_000702): 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 of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 2 subunit. Mutations in this gene result in familial basilar or hemiplegic migraines, and in a rare syndrome known as alternating hemiplegia of childhood. [provided by RefSeq, Oct 2008].
Gencode Transcript: ENST00000361216.8
Gencode Gene: ENSG00000018625.15
Transcript (Including UTRs)
   Position: hg38 chr1:160,115,759-160,143,591 Size: 27,833 Total Exon Count: 23 Strand: +
Coding Region
   Position: hg38 chr1:160,115,862-160,141,322 Size: 25,461 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:160,115,759-160,143,591)mRNA (may differ from genome)Protein (1020 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
HGNCHPRDLynxMGImyGene2neXtProt
OMIMPubMedReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: AT1A2_HUMAN
DESCRIPTION: RecName: Full=Sodium/potassium-transporting ATPase subunit alpha-2; Short=Na(+)/K(+) ATPase alpha-2 subunit; EC=3.6.3.9; AltName: Full=Sodium pump subunit alpha-2; Flags: Precursor;
FUNCTION: This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. This action creates the electrochemical gradient of sodium and potassium, providing the energy for active transport of various nutrients.
CATALYTIC ACTIVITY: ATP + H(2)O + Na(+)(In) + K(+)(Out) = ADP + phosphate + Na(+)(Out) + K(+)(In).
SUBUNIT: Composed of three subunits: alpha (catalytic), beta and gamma.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.
DISEASE: Defects in ATP1A2 are the cause of familial hemiplegic migraine type 2 (FHM2) [MIM:602481]. FHM2 is a rare, severe, autosomal dominant subtype of migraine characterized by aura and some hemiparesis.
DISEASE: Defects in ATP1A2 are a cause of alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]. AHC is typically distinguished from familial hemiplegic migraine by infantile onset of the symptoms and high prevalence of associated neurological deficits that become increasingly obvious with age.
SIMILARITY: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily.
SEQUENCE CAUTION: Sequence=BAA34498.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP1A2";

-  MalaCards Disease Associations
  MalaCards Gene Search: ATP1A2
Diseases sorted by gene-association score: alternating hemiplegia of childhood* (1608), migraine, familial hemiplegic, 2* (1330), atp1a2-related alternating hemiplegia of childhood* (500), familial or sporadic hemiplegic migraine* (175), hemiplegia (40), familial hemiplegic migraine (30), hemiplegic migraine (30), migraine with aura (27), migraine with or without aura 1 (20), migraine with brainstem aura (19), headache (16), sporadic hemiplegic migraine (13), thyrotoxic periodic paralysis (8), episodic ataxia (8), quadriplegia (5), benign familial infantile epilepsy (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D010042 Ouabain
  • D010269 Paraquat
  • D013749 Tetrachlorodibenzodioxin
  • C029790 2,2',3',4,4',5-hexachlorobiphenyl
  • C573693 2-(4-((4-(6-methoxy-3-pyridinyl)-5-(4-(trifluoromethoxy)phenyl)-2-thiazolyl)methoxy)-2-methylphenoxy)acetic acid
  • C016392 3,3'-diindolylmethane
  • C108123 4-amino-5-(4-methylphenyl)-7-(tert-butyl)pyrazolo(3,4-d)pyrimidine
  • D016604 Aflatoxin B1
  • D000638 Amiodarone
  • D000641 Ammonia
          more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 353.09 RPKM in Brain - Caudate (basal ganglia)
Total median expression: 3274.56 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -40.40103-0.392 Picture PostScript Text
3' UTR -737.902269-0.325 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR023306 - ATPase_cation_domN
IPR008250 - ATPase_P-typ_ATPase-assoc-dom
IPR005775 - ATPase_P-typ_cation-ex_asu_euk
IPR006069 - ATPase_P-typ_cation-exchng_asu
IPR006068 - ATPase_P-typ_cation-transptr_C
IPR004014 - ATPase_P-typ_cation-transptr_N
IPR023300 - ATPase_P-typ_cyto_domA
IPR023299 - ATPase_P-typ_cyto_domN
IPR001757 - ATPase_P-typ_ion-transptr
IPR018303 - ATPase_P-typ_P_site
IPR023298 - ATPase_P-typ_TM_dom
IPR005834 - Dehalogen-like_hydro
IPR023214 - HAD-like_dom

Pfam Domains:
PF00689 - Cation transporting ATPase, C-terminus
PF00690 - Cation transporter/ATPase, N-terminus
PF00122 - E1-E2 ATPase
PF00702 - haloacid dehalogenase-like hydrolase

ModBase Predicted Comparative 3D Structure on P50993
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologGenome BrowserNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl WormBase 
Protein SequenceProtein Sequence  Protein Sequence 
AlignmentAlignment  Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0005391 sodium:potassium-exchanging ATPase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0016787 hydrolase activity
GO:0019829 cation-transporting ATPase activity
GO:0046872 metal ion binding
GO:0051087 chaperone binding
GO:1990239 steroid hormone binding
GO:0008144 drug binding
GO:0016887 ATPase activity
GO:0030955 potassium ion binding
GO:0031402 sodium ion binding

Biological Process:
GO:0001504 neurotransmitter uptake
GO:0002026 regulation of the force of heart contraction
GO:0002087 regulation of respiratory gaseous exchange by neurological system process
GO:0006811 ion transport
GO:0006813 potassium ion transport
GO:0006814 sodium ion transport
GO:0006883 cellular sodium ion homeostasis
GO:0006937 regulation of muscle contraction
GO:0006940 regulation of smooth muscle contraction
GO:0006942 regulation of striated muscle contraction
GO:0008217 regulation of blood pressure
GO:0008344 adult locomotory behavior
GO:0008542 visual learning
GO:0010107 potassium ion import
GO:0010248 establishment or maintenance of transmembrane electrochemical gradient
GO:0010881 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
GO:0015991 ATP hydrolysis coupled proton transport
GO:0019229 regulation of vasoconstriction
GO:0030007 cellular potassium ion homeostasis
GO:0035094 response to nicotine
GO:0036376 sodium ion export from cell
GO:0040011 locomotion
GO:0045822 negative regulation of heart contraction
GO:0045988 negative regulation of striated muscle contraction
GO:0046034 ATP metabolic process
GO:0051481 negative regulation of cytosolic calcium ion concentration
GO:0051946 regulation of glutamate uptake involved in transmission of nerve impulse
GO:0051966 regulation of synaptic transmission, glutamatergic
GO:0055119 relaxation of cardiac muscle
GO:0060048 cardiac muscle contraction
GO:0071260 cellular response to mechanical stimulus
GO:0071383 cellular response to steroid hormone stimulus
GO:0086004 regulation of cardiac muscle cell contraction
GO:0086009 membrane repolarization
GO:0086012 membrane depolarization during cardiac muscle cell action potential
GO:0086064 cell communication by electrical coupling involved in cardiac conduction
GO:1903170 negative regulation of calcium ion transmembrane transport
GO:1903280 negative regulation of calcium:sodium antiporter activity
GO:1903416 response to glycoside
GO:1990573 potassium ion import across plasma membrane

Cellular Component:
GO:0005737 cytoplasm
GO:0005768 endosome
GO:0005886 plasma membrane
GO:0005890 sodium:potassium-exchanging ATPase complex
GO:0005901 caveola
GO:0014704 intercalated disc
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030315 T-tubule
GO:0042383 sarcolemma
GO:0043005 neuron projection
GO:0043197 dendritic spine
GO:0043209 myelin sheath
GO:0045202 synapse
GO:1903561 extracellular vesicle


-  Descriptions from all associated GenBank mRNAs
  Y07494 - H. sapiens alpha subunit and regulatory region of Na+, K+ -ATPase.
JD259743 - Sequence 240767 from Patent EP1572962.
AK124581 - Homo sapiens cDNA FLJ42590 fis, clone BRACE3009708, highly similar to Sodium/potassium-transporting ATPase alpha-2chain precursor (EC 3.6.3.9).
AK225127 - Homo sapiens mRNA for Na+/K+ -ATPase alpha 2 subunit proprotein variant, clone: CBL02777.
AK295048 - Homo sapiens cDNA FLJ53737 complete cds, highly similar to Sodium/potassium-transporting ATPase alpha-2 chain precursor (EC 3.6.3.9).
AK091617 - Homo sapiens cDNA FLJ34298 fis, clone FEBRA2006357, highly similar to Sodium/potassium-transporting ATPase alpha-2 chain precursor (EC 3.6.3.9).
AK314296 - Homo sapiens cDNA, FLJ95053, highly similar to Homo sapiens ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide(ATP1A2), mRNA.
BC047533 - Homo sapiens cDNA clone IMAGE:5259455, containing frame-shift errors.
AB018321 - Homo sapiens KIAA0778 mRNA for KIAA0778 protein.
BC052271 - Homo sapiens ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide, mRNA (cDNA clone MGC:59864 IMAGE:6672133), complete cds.
JD218531 - Sequence 199555 from Patent EP1572962.
JD519330 - Sequence 500354 from Patent EP1572962.
KU177927 - Homo sapiens ATPase Na+/K+ transporting alpha 2 polypeptide isoform 1 (ATP1A2) mRNA, partial cds.
KU177928 - Homo sapiens ATPase Na+/K+ transporting alpha 2 polypeptide isoform 2 (ATP1A2) mRNA, partial cds, alternatively spliced.
AB383987 - Synthetic construct DNA, clone: pF1KSDA0778, Homo sapiens ATP1A2 gene for sodium/potassium-transporting ATPase subunit alpha-2 precursor, complete cds, without stop codon, in Flexi system.
KJ896470 - Synthetic construct Homo sapiens clone ccsbBroadEn_05864 ATP1A2 gene, encodes complete protein.
AL831997 - Homo sapiens mRNA; cDNA DKFZp451J233 (from clone DKFZp451J233).
AL831991 - Homo sapiens mRNA; cDNA DKFZp451I213 (from clone DKFZp451I213).
AY946014 - Homo sapiens Na+/K+ transporting ATPase alpha 2 polypeptide (ATP1A2) mRNA, partial cds.
M16795 - Human Na,K-ATPase catalytic subunit alpha-B mRNA, partial cds.
AK126573 - Homo sapiens cDNA FLJ44610 fis, clone BRACE2012317, highly similar to Sodium/potassium-transporting ATPase alpha-2 chain precursor (EC 3.6.3.9).
AK308773 - Homo sapiens cDNA, FLJ98814.
AK295729 - Homo sapiens cDNA FLJ56089 complete cds, highly similar to Sodium/potassium-transporting ATPase alpha-2 chain precursor (EC 3.6.3.9).
AK299460 - Homo sapiens cDNA FLJ60028 complete cds, highly similar to Sodium/potassium-transporting ATPase alpha-2 chain precursor (EC 3.6.3.9).
JD052053 - Sequence 33077 from Patent EP1572962.
JD169034 - Sequence 150058 from Patent EP1572962.
JD488771 - Sequence 469795 from Patent EP1572962.
JD283090 - Sequence 264114 from Patent EP1572962.
JD094956 - Sequence 75980 from Patent EP1572962.
JD315332 - Sequence 296356 from Patent EP1572962.
JD121831 - Sequence 102855 from Patent EP1572962.
JD041519 - Sequence 22543 from Patent EP1572962.
JD389393 - Sequence 370417 from Patent EP1572962.
JD164126 - Sequence 145150 from Patent EP1572962.
JD303880 - Sequence 284904 from Patent EP1572962.
JD045995 - Sequence 27019 from Patent EP1572962.
JD288067 - Sequence 269091 from Patent EP1572962.
JD215668 - Sequence 196692 from Patent EP1572962.
JD483120 - Sequence 464144 from Patent EP1572962.
JD277135 - Sequence 258159 from Patent EP1572962.
JD468080 - Sequence 449104 from Patent EP1572962.
JD554009 - Sequence 535033 from Patent EP1572962.
JD237713 - Sequence 218737 from Patent EP1572962.
JD428154 - Sequence 409178 from Patent EP1572962.
JD355515 - Sequence 336539 from Patent EP1572962.
JD383815 - Sequence 364839 from Patent EP1572962.
JD251720 - Sequence 232744 from Patent EP1572962.
JD500315 - Sequence 481339 from Patent EP1572962.
JD256147 - Sequence 237171 from Patent EP1572962.
JD089952 - Sequence 70976 from Patent EP1572962.
JD249367 - Sequence 230391 from Patent EP1572962.
JD430543 - Sequence 411567 from Patent EP1572962.
JD529813 - Sequence 510837 from Patent EP1572962.
JD435078 - Sequence 416102 from Patent EP1572962.
JD435079 - Sequence 416103 from Patent EP1572962.
JD307247 - Sequence 288271 from Patent EP1572962.
JD323265 - Sequence 304289 from Patent EP1572962.
JD136668 - Sequence 117692 from Patent EP1572962.
JD136669 - Sequence 117693 from Patent EP1572962.
JD444400 - Sequence 425424 from Patent EP1572962.
JD175977 - Sequence 157001 from Patent EP1572962.
JD332467 - Sequence 313491 from Patent EP1572962.
JD448496 - Sequence 429520 from Patent EP1572962.
JD352077 - Sequence 333101 from Patent EP1572962.
JD257701 - Sequence 238725 from Patent EP1572962.
JD144046 - Sequence 125070 from Patent EP1572962.
JD091425 - Sequence 72449 from Patent EP1572962.
JD504731 - Sequence 485755 from Patent EP1572962.
JD366460 - Sequence 347484 from Patent EP1572962.
JD517618 - Sequence 498642 from Patent EP1572962.
JD217293 - Sequence 198317 from Patent EP1572962.
BC013680 - Homo sapiens, clone IMAGE:4158325, mRNA.
JD386746 - Sequence 367770 from Patent EP1572962.
JD061494 - Sequence 42518 from Patent EP1572962.
JD429198 - Sequence 410222 from Patent EP1572962.
JD410452 - Sequence 391476 from Patent EP1572962.
JD260717 - Sequence 241741 from Patent EP1572962.
JD109927 - Sequence 90951 from Patent EP1572962.
JD040803 - Sequence 21827 from Patent EP1572962.
JD166535 - Sequence 147559 from Patent EP1572962.
JD195571 - Sequence 176595 from Patent EP1572962.
JD217162 - Sequence 198186 from Patent EP1572962.
JD460924 - Sequence 441948 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04260 - Cardiac muscle contraction
hsa04960 - Aldosterone-regulated sodium reabsorption
hsa04964 - Proximal tubule bicarbonate reclamation

Reactome (by CSHL, EBI, and GO)

Protein P50993 (Reactome details) participates in the following event(s):

R-HSA-936897 ATP1A:ATP1B:FXYD exchanges Na+ for K+
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-5578775 Ion homeostasis
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: AT1A2_HUMAN, D3DVE4, ENST00000361216.1, ENST00000361216.2, ENST00000361216.3, ENST00000361216.4, ENST00000361216.5, ENST00000361216.6, ENST00000361216.7, KIAA0778, NM_000702, P50993, Q07059, Q5JW74, Q86UZ5, Q9UQ25, uc001fvc.1, uc001fvc.2, uc001fvc.3, uc001fvc.4, uc001fvc.5
UCSC ID: ENST00000361216.8
RefSeq Accession: NM_000702
Protein: P50993 (aka AT1A2_HUMAN or A1A2_HUMAN)
CCDS: CCDS1196.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene ATP1A2:
fhm (Familial Hemiplegic Migraine)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.