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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATP1A2 Gene

protein-coding   GIFtS: 73
GCID: GC01P160085

ATPase, Na+/K+ Transporting, Alpha 2 Polypeptide

(Previous names: migraine, hemiplegic 2, ATPase, Na+/K+ transporting, alpha...)
(Previous symbol: MHP2)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
ATPase, Na+/K+ Transporting, Alpha 2 Polypeptide1 2     ATPase, Na+/K+ Transporting, Alpha 2 (+) Polypeptide1
Sodium Pump Subunit Alpha-21 2 3     Migraine, Hemiplegic 21
MHP21 2 5     Na+/K+ ATPase, Alpha-A(+) Catalytic Polypeptide2
Sodium-Potassium ATPase Catalytic Subunit Alpha-21 2     Na+/K+ ATPase, Alpha-B Polypeptide2
Sodium/Potassium-Transporting ATPase Subunit Alpha-21 2     Sodium/Potassium-Transporting ATPase Alpha-2 Chain2
Na(+)/K(+) ATPase Alpha-2 Subunit2 3     KIAA07783
EC 3.6.3.93 8     EC 3.6.38
FHM22 5     

External Ids:    HGNC: 8001   Entrez Gene: 4772   Ensembl: ENSG000000186257   OMIM: 1823405   UniProtKB: P509933   

Export aliases for ATP1A2 gene to outside databases

Previous GC identifers: GC01P157877 GC01P155817 GC01P156863 GC01P157302 GC01P156883 GC01P158353 GC01P131442


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATP1A2 Gene:
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)

GeneCards Summary for ATP1A2 Gene: 
ATP1A2 (ATPase, Na+/K+ transporting, alpha 2 polypeptide) is a protein-coding gene. Diseases associated with ATP1A2 include migraine, and familial hemiplegic migraine type 2, and among its related super-pathways are Thyroid hormone synthesis and Salivary secretion. GO annotations related to this gene include sodium:potassium-exchanging ATPase activity and metal ion binding. An important paralog of this gene is ATP1A4.

UniProtKB/Swiss-Prot: AT1A2_HUMAN, P50993
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

summary for ATP1A2 Gene:
Na+,K+-ATPase is an ion pump responsible for maintaining sodium and potassium electrochemical gradients
across the plasma membrane.

Gene Wiki entry for ATP1A2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004487.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP1A2 gene promoter:
         GR   E2F-3a   E2F-4   E2F-5   HTF   E2F-2   E2F   E2F-1   Chx10   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP1A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP1A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP1A2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23.2   Ensembl cytogenetic band:  1q23.2   HGNC cytogenetic band: 1q23.2

ATP1A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP1A2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P160085:  view genomic region     (about GC identifiers)

Start:
160,085,520 bp from pter      End:
160,113,381 bp from pter
Size:
27,862 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT1A2_HUMAN, P50993 (See protein sequence)
Recommended Name: Sodium/potassium-transporting ATPase subunit alpha-2 precursor  
Size: 1020 amino acids; 112265 Da
Subunit: Composed of three subunits: alpha (catalytic), beta and gamma
Subcellular location: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein
Sequence caution: Sequence=BAA34498.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: D3DVE4 Q07059 Q5JW74 Q86UZ5 Q9UQ25

Explore the universe of human proteins at neXtProt for ATP1A2: NX_P50993

Explore proteomics data for ATP1A2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50993

  • 4/101 DME Specific Peptides for ATP1A2 (P50993) (see all 101)
     AVETLGS  SSLTGES  DDHKLSL  PADLRII 

    ATP1A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP1A2 Protein Expression
    REFSEQ proteins: NP_000693.1  
    ENSEMBL proteins: 
     ENSP00000354490   ENSP00000376066   ENSP00000411705  
    Reactome Protein details: P50993
    Human Recombinant Protein Products for ATP1A2: 
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    Novus Biologicals ATP1A2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/11 cellular component terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA12539047
    GO:0005768endosome IEA--
    GO:0005886plasma membrane TAS--
    GO:0005890sodium:potassium-exchanging ATPase complex IC12539047
    GO:0005901caveola IEA--

    ATP1A2 for ontologies           About GeneDecksing



    ATP1A2 Antibody Products: 
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    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: α2 
    Na+/K+-ATPase

    5/9 InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR005775 ATPase_P-typ_Na/K_IIC
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom

    Graphical View of Domain Structure for InterPro Entry P50993

    ProtoNet protein and cluster: P50993

    4 Blocks protein domains:
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB006069 Sodium/potassium-transporting ATPase signature
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT1A2_HUMAN, P50993
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIC subfamily


    ATP1A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT1A2_HUMAN, P50993
    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)

         Genatlas biochemistry entry for ATP1A2:
    ATPase,Na+K+,alpha 2 polypeptide

         Enzyme Numbers (IUBMB): EC 3.6.3.91 2 EC 3.6.32

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005391sodium:potassium-exchanging ATPase activity IMP12539047
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0015077monovalent inorganic cation transmembrane transporter activity ----
         
    ATP1A2 for ontologies           About GeneDecksing


    Phenotypes:
         7 GenomeRNAi human phenotypes for ATP1A2:
     Decreased influenza A H1N1 (A/  Decreased influenza A/WSN/33 r  G0/1 arrest  Increased G1 DNA content 
     Increased cell size  Increased gamma-H2AX phosphory  Synthetic lethal with Ras 

         10 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Atp1a2):
     behavior/neurological  cardiovascular system  embryogenesis  homeostasis/metabolism  integument 
     mortality/aging  muscle  nervous system  normal  respiratory system 

    ATP1A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ATP1A2: Atp1a2tm2Kwk Atp1a2tm1Kwk Atp1a2tm2Ling

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ATP1A2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP1A2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP1A2 

    miRNA
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    miRTarBase miRNAs that target ATP1A2:
    hsa-mir-122 (MIRT003095)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATP1A2
    8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP1A2 (see all 55):
    hsa-miR-596 hsa-miR-106a hsa-miR-301a hsa-miR-371-5p hsa-miR-449a hsa-miR-550a* hsa-miR-4267 hsa-miR-93
    SwitchGear 3'UTR luciferase reporter plasmidATP1A2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1A2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP1A2 About   (see all 17)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Insulin secretion
    Insulin secretion0.36
    Thyroid hormone synthesis0.36
    2Gastric acid secretion
    Gastric acid secretion0.34
    Salivary secretion0.34
    3Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    4SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    5Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ATP1A2
        Sodium-coupled transporters and pumps

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP1A2
        Hepatic ABC Transporters
    Aldosterone Signaling in Epithelial Cells

    1 BioSystems Pathway for ATP1A2
        Synaptic Vesicle Pathway

    3        Reactome Pathways for ATP1A2
        Transmembrane transport of small molecules
    Ion channel transport
    Ion transport by P-type ATPases


    5/13         Kegg Pathways  (Kegg details for ATP1A2) (see all 13):
        Cardiac muscle contraction
    Insulin secretion
    Thyroid hormone synthesis
    Aldosterone-regulated sodium reabsorption
    Endocrine and other factor-regulated calcium reabsorption


    ATP1A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP1A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/34 Interacting proteins for ATP1A2 (P509933 ENSP000003544904) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPT1P136933, ENSP000003683504I2D: score=1 STRING: ENSP00000368350
    GABARAPO951663I2D: score=2 
    ATG10Q9H0Y03I2D: score=1 
    ATG12O948173I2D: score=1 
    ATG16L1Q676U53I2D: score=1 
    About this table

    Gene Ontology (GO): 5/25 biological process terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001504neurotransmitter uptake IEA--
    GO:0002026regulation of the force of heart contraction IEA--
    GO:0002087regulation of respiratory gaseous exchange by neurological system process IEA--
    GO:0006754ATP biosynthetic process IEA--
    GO:0006812cation transport ----

    ATP1A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATP1A2 for compounds           About GeneDecksing

    EMD Millipore small molecules for ATP1A2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ATP1A2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    Lithium carbonateMood stabilizer; inhibits Na+/K+ ATPase pump activity[554-13-2]
    Digoxin Na+, K+-ATPase inhibitor [20830-75-5]

    7 HMDB Compounds for ATP1A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    PotassiumK+ (see all 16)7440-09-7--
    SodiumSodium (see all 2)7440-23-5--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    8 Novoseek inferred chemical compound relationships for ATP1A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ouabain 51.5 2 19406178 (1), 10555956 (1)
    sodium 47.2 14 1702984 (1), 1665097 (1), 8320840 (1), 11247557 (1) (see all 10)
    potassium 29.7 4 9333591 (2), 15549578 (1), 11224699 (1)
    calcium 28.5 12 14624354 (1), 15549578 (1), 15346975 (1), 16571116 (1) (see all 9)
    magnesium 3.97 2 9333591 (2)
    glucose 0 1 9233427 (1)
    fatty acid 0 1 9519564 (1)
    glutamate 0 1 16116111 (1)

    Search CenterWatch for drugs/clinical trials and news about ATP1A2 / AT1A2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATP1A2 gene: 
    NM_000702.3  

    Unigene Cluster for ATP1A2:

    ATPase, Na+/K+ transporting, alpha 2 polypeptide
    Hs.34114  [show with all ESTs]
    Unigene Representative Sequence: NM_000702
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000472488(uc010piz.1 uc009wtg.1 uc001fvb.2) ENST00000478587
    ENST00000361216(uc001fvc.3 uc001fvd.3) ENST00000392233 ENST00000468587
    ENST00000447527 ENST00000463989 ENST00000459972
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATP1A2
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    Additional mRNA sequence: 

    AB018321.2 AK091617.1 AK126573.1 AK295048.1 AK295729.1 AK299460.1 AK308773.1 AK314296.1 
    AL831991.1 AL831997.1 AY946014.1 BC013680.1 BC047533.1 BC052271.1 M16795.1 

    21 DOTS entries:

    DT.100819279  DT.100031180  DT.455727  DT.121366670  DT.95167097  DT.121366722  DT.121366736  DT.121366726 
    DT.121366663  DT.75190013  DT.40123776  DT.100819280  DT.100819281  DT.121366669  DT.121366721  DT.40277262 
    DT.91662921  DT.91899854  DT.121366660  DT.75121601  DT.95145184 

    24/219 AceView cDNA sequences (see all 219):

    F07411 CA396394 BU553035 H87972 CA395837 CA391645 AA348067 F03554 
    CD515327 BQ638487 N21985 AI367523 AA233559 C20831 F08479 AA084483 
    AI937102 CB155545 BC013680 AI291381 AI493690 BI496229 AI990678 AA350596 

    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for ATP1A2 (see all 11)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c ^ 14a · 14b ^ 15a ·
    SP1:                                -                 -                                   -     -     -                       -                                 
    SP2:                                -                 -                                   -     -     -                       -                                 
    SP3:                                                                                                                                                            
    SP4:                                                                                                                          -                                 
    SP5:                    -     -     -     -           -                                                                                                         

    ExUns: 15b ^ 16 ^ 17 ^ 18a · 18b · 18c ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b · 22c ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27a · 27b · 27c
    SP1:                                      -                                               -                       -                     
    SP2:                                      -                                                                                             
    SP3:                                      -                       -                       -                                             
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for ATP1A2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATP1A2 expression in normal human tissues (normalized intensities)      ATP1A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCTAATTAT
    ATP1A2 Expression
    About this image


    ATP1A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/25 selected tissues (see all 25) fully expand
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Thalamus
             Human Brain Vascular Pericyte (HBVP)   
             Globus Pallidus   
     
     Heart (Cardiovascular System)    fully expand to see all 6 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
             heart/atrium   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Retina
             Human Non-Pigment Ciliary Epithelial Cells (HNPCEpiC)   
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Body Subcutaneous White Adipose
             HyStem+BMP4-induced 7SMOO32 cells
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Trachea
             Human Bronchial Smooth Muscle Cells (HBSM)   

    See ATP1A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP1A2

    SOURCE GeneReport for Unigene cluster: Hs.34114
        SABiosciences Custom PCR Arrays for ATP1A2
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ATP1A2 gene from 7/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp1a21 , 5 ATPase, Na+/K+ transporting, alpha 2 polypeptide1, 5 90.36(n)1
    99.12(a)1
      1 (79.60 cM)5
    986601  NM_178405.31  NP_848492.11 
     1722717095 
    chicken
    (Gallus gallus)
    Aves ATP1A21 ATPase, Na+/K+ transporting, alpha 2 polypeptide 83.48(n)
    93.99(a)
      396468  NM_205476.1  NP_990807.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP1A26
    ATP1A46
    Uncharacterized protein
    91(a)
    89(a)
    1 ↔ 1
    possible ortholog
    GL344724.1(1098-20783)
    GL344515.1(24178-29852)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC684602 hypothetical protein MGC68460 80.32(n)    BC060332.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp1a2a1 ATPase, Na+/K+ transporting, alpha 2a polypeptide 76.6(n)
    86.43(a)
      64609  NM_131683.1  NP_571758.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atpalpha3 cation transport
    sodium/potassium-exchanging ATPase
    76(a)
    (best of 3)
      93B2   --
    worm
    (Caenorhabditis elegans)
    Secernentea eat-63 Na(+)/K(+) ATPase alpha subunit 72(a)
    (best of 3)
      V(13129245-13132586)   --


    ENSEMBL Gene Tree for ATP1A2 (if available)
    TreeFam Gene Tree for ATP1A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP1A2 gene
    ATP1A42  ATP12A2  ATP1A12  ATP4A2  ATP1A32  
    9 SIMAP similar genes for ATP1A2 using alignment to 4 protein entries:     AT1A2_HUMAN (see all proteins):
    ATP1A3    ATP1A1    ATP1A4    ATP12A    DKFZp666G172    ATP4A
    ATP2A2    ATP2C1    ATP2C2

    ATP1A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/849 SNPs in ATP1A2 are shown (see all 849)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0656854
    Familial hemiplegic migraine 2 (FHM2)4--see VAR_0656852 G R mis40--------
    rs289340021,2,4
    CAlternating hemiplegia of childhood 1 (AHC1)4 pathogenic1166594423(+) GGGCAA/CCCTCA 2 N T mis10--------
    rs289334011,2,4
    CFamilial hemiplegic migraine 2 (FHM2)4 pathogenic1166600906(+) TGCTCA/GAACGT 2 Q R mis1 ese30--------
    rs289334001,2,4
    CFamilial hemiplegic migraine 2 (FHM2)4 pathogenic1166601170(+) TGCCAC/TGGGCA 2 T M mis10--------
    rs289333981,2,4
    CFamilial hemiplegic migraine 2 (FHM2)4 pathogenic1166601505(+) CCGCCC/TGATCT 2 P L mis1 ese30--------
    rs289333991,2,4
    CFamilial hemiplegic migraine 2 (FHM2)4 pathogenic1166602325(+) TCGACC/TGGGAT 2 R W mis1 ese30--------
    rs1219186191,2
    C,Fpathogenic1166588884(+) ACCAGC/TGGGCT 2 R W mis11Minor allele frequency- T:0.00NA 4550
    rs751240671,2
    --131446204(+) AAAAAA/GCAAAC 1 -- int10--------
    rs784456451,2
    --131446205(+) AAAAGA/CAAACA 1 -- int10--------
    rs2008707731,2
    C--131446761(+) AAAAAA/GAAAGA 1 -- int10--------

    HapMap Linkage Disequilibrium report for ATP1A2 (160085520 - 160113381 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ATP1A2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv872490CNV Loss21882294
    nsv520189CNV Loss19592680


    Human Gene Mutation Database (HGMD): ATP1A2

    Locus Specific Mutation Databases (LSDB): ATP1A2
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 182340   
    OMIM disorders: 602481  104290  
    UniProtKB/Swiss-Prot: AT1A2_HUMAN, P50993
  • Familial hemiplegic migraine 2 (FHM2) [MIM:602481]: A subtype of migraine with aura associated with
    hemiparesis in some families. Migraine is a disabling symptom complex of periodic headaches, usually temporal and
    unilateral. Headaches are often accompanied by irritability, nausea, vomiting and photophobia, preceded by
    constriction of the cranial arteries. Migraine with aura is characterized by recurrent attacks of reversible
    neurological symptoms (aura) that precede or accompany the headache. Aura may include a combination of sensory
    disturbances, such as blurred vision, hallucinations, vertigo, numbness and difficulty in concentrating and
    speaking. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Alternating hemiplegia of childhood 1 (AHC1) [MIM:104290]: A rare syndrome of episodic hemi- or
    quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements,
    nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. It is
    typically distinguished from familial hemiplegic migraine by infantile onset and high prevalence of associated
    neurological deficits that become increasingly obvious with age. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/45 diseases for ATP1A2 (see all 45):    About MalaCards
    migraine    familial hemiplegic migraine type 2    hemiplegia    alternating hemiplegia of childhood
    skull base meningioma    basilar migraine    atp1a2-related alternating hemiplegia of childhood    migraine, familial basilar
    hemiplegic migraine    familial hemiplegic migraine    benign familial infantile epilepsy    migraine with aura
    thyrotoxic periodic paralysis    intracranial hypertension    paralysis    episodic ataxia
    hypokalemia    diabetic neuropathy    acquired immunodeficiency syndrome    idiopathic generalized epilepsy

    3 diseases from the University of Copenhagen DISEASES database for ATP1A2:
    Migraine     Hemiplegia     Benign familial infantile epilepsy

    ATP1A2 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for ATP1A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hemiplegic migraine familial 97.4 30 12539047 (2), 18498390 (2), 15133718 (2), 14624354 (1) (see all 23)
    migraine hemiplegic 94.1 16 14624354 (2), 18513263 (2), 16116111 (2), 18644608 (2) (see all 10)
    migraine 81.6 16 18028407 (3), 15210532 (2), 14624354 (1), 18483709 (1) (see all 8)
    common migraine 77.6 1 16157018 (1)
    basilar migraine 71.9 1 16344534 (1)
    periodic paralysis 58.3 1 9793040 (1)
    epilepsy 43.6 10 18028407 (4), 18644608 (2), 18498390 (1), 15907261 (1)
    mental retardation 39.3 1 16437583 (1)
    hypokalemia 21.3 1 16608889 (1)
    ischemia 0 1 19822191 (1)

    GeneTests: ATP1A2
    GeneReviews: ATP1A2
    Genetic Association Database (GAD): ATP1A2
    Human Genome Epidemiology (HuGE) Navigator: ATP1A2 (12 documents)

    Export disorders for ATP1A2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ATP1A2 gene, integrated from 9 sources (see all 192):
    (articles sorted by number of sources associating them with ATP1A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Novel mutations in the Na+, K+-ATPase pump gene ATP1A2 associated with familial hemiplegic migraine and benign familial infantile convulsions. (PubMed id 12953268)1, 2, 4 Vanmolkot K.R.J.... van den Maagdenberg A.M.J.M. (2003)
    2. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. (PubMed id 18513263)1, 4, 9 Thomsen L....Olesen J. (2008)
    3. Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. (PubMed id 12539047)1, 2, 9 De Fusco M.... Casari G. (2003)
    4. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PubMed id 16430714)1, 4, 9 Kung A.W....Chan V. (2006)
    5. Relation of alleles of the sodium-potassium adenosine triphosphatase alpha 2 gene with blood pressure and lead exposure. (PubMed id 11257061)1, 4, 9 Glenn B.S....Bressler J. (2001)
    6. Association analysis of chromosome 1 migraine candidate genes. (PubMed id 17727731)1, 4, 9 Fernandez F....Griffiths L.R. (2007)
    7. Mapping of a second locus for familial hemiplegic migraine to 1q21-q23 and evidence of further heterogeneity. (PubMed id 9403481)1, 3, 9 Ducros A....Tournier-Lasserve E. (1997)
    8. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    9. [Association of the polymorphisms of sodium transport related genes with essential hypertension] (PubMed id 19199261)1, 4 Gong P.Y....Zhao X. (2009)
    10. Association Between Sodium- and Potassium-Activated Adenosine Triphosphatase alpha Isoforms and Bipolar Disorders. (PubMed id 19058785)1, 4 Goldstein I....Lichtstein D. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 477 HGNC: 800 AceView: ATP1A2 Ensembl:ENSG00000018625 euGenes: HUgn477
    ECgene: ATP1A2 Kegg: 477 H-InvDB: ATP1A2

    (According to HUGE)
    About This Section
    HUGE: KIAA0778

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATP1A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATP1A2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP1A2 gene:
    Search GeneIP for patents involving ATP1A2

    Licensable Technologies for ATP1A2 gene:
    Weizmann Institute:"Na, K-ATPase Isoforms and Selective Inhibitors Thereof"
    GeneCards and IP:
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    About This Section

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