Human Gene ATP1A2 (uc009wtg.1)
  Description: Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.
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].
Transcript (Including UTRs)
   Position: hg19 chr1:160,098,186-160,100,387 Size: 2,202 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg19 chr1:160,098,361-160,100,387 Size: 2,027 Coding Exon Count: 5 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureOther SpeciesmRNA Descriptions
PathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:160,098,186-160,100,387)mRNA (may differ from genome)Protein (297 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSEnsemblExonPrimerGeneCardsGeneNetworkH-INV
HGNCHuman Cortex Gene ExpressionLynxMalacardsMGIPubMed
Wikipedia

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ATP1A2
CDC HuGE Published Literature: ATP1A2
Positive Disease Associations: familial hemiplegic migraine and benign familial infantile convulsions
Related Studies:
  1. familial hemiplegic migraine and benign familial infantile convulsions
    Vanmolkot KR 2003, Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions., Annals of neurology. 2003 Sep;54(3):360-6. [PubMed 12953268]

-  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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  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 -32.10175-0.183 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.

-  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
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  AK124581 - Homo sapiens cDNA FLJ42590 fis, clone BRACE3009708, highly similar to Sodium/potassium-transporting ATPase alpha-2chain precursor (EC 3.6.3.9).
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.
KU177927 - Homo sapiens ATPase Na+/K+ transporting alpha 2 polypeptide isoform 1 (ATP1A2) mRNA, partial cds.
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).
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).

-  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

-  Other Names for This Gene
  Alternate Gene Symbols: AK308773
UCSC ID: uc009wtg.1
RefSeq Accession: NM_000702

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

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK308773.1
exon count: 5CDS single in 3' UTR: no RNA size: 1039
ORF size: 891CDS single in intron: no Alignment % ID: 99.90
txCdsPredict score: 1734.50frame shift in genome: no % Coverage: 99.71
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 256# strange splices: 0
Click here for a detailed description of the fields of the table above.

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