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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)
  See ATP1A2-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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 basilar migraine, and skull base meningioma. GO annotations related to this gene include sodium:potassium-exchanging ATPase activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   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 Chromatin IP Primers for ATP1A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys357, Lys375, Lys602, Lys609, Lys622, Lys626, Lys695, Lys840
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP1A2 (P50993) (see all 101)
     AVETLGS  SSLTGES  DDHKLSL  PADLRII 


    See ATP1A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000693.1  
    ENSEMBL proteins: 
     ENSP00000354490   ENSP00000376066   ENSP00000411705  
    Reactome Protein details: P50993

    ATP1A2 Human Recombinant Protein Products:

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    Novus Biologicals ATP1A2 Lysate
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online peptides for ATP1A2

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    antibodies-online kits for ATP1A2 (14 products) 


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: alpha2
    Na+/K+-ATPase

    Selected InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR005775 ATPase_P-typ_Na/K_IIC
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N

    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


    Find genes that share domains with ATP1A2           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): Selected molecular function terms (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 ----
         
    Find genes that share ontologies with ATP1A2           About GenesLikeMe


    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 

    Find genes that share phenotypes with ATP1A2           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP1A2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP1A2

    miRNA
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    miRTarBase miRNAs that target ATP1A2:
    hsa-mir-100-5p (MIRT048595), hsa-mir-10a-5p (MIRT047687), hsa-mir-122-5p (MIRT003095)

    Block miRNA regulation of human, mouse, rat ATP1A2 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat ATP1A2

    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1A2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AT1A2_HUMAN, P50993: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endosome2

    Gene Ontology (GO): Selected cellular component terms (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--

    Find genes that share ontologies with ATP1A2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP1A2 About   (see all 20)  
    See pathways by source

    SuperPathContained pathways About
    1Insulin secretion
    Insulin secretion0.36
    Thyroid hormone synthesis0.36
    2Salivary secretion
    Salivary secretion0.34
    Gastric acid secretion0.34
    3Ion channel transport
    Ion channel transport0.58
    4Synaptic vesicle cycle
    Synaptic Vesicle Pathway0.50
    5Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with ATP1A2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

    1 BioSystems Pathway for ATP1A2
        Synaptic Vesicle Pathway

    1 Reactome Pathway for ATP1A2
        Ion transport by P-type ATPases


    Selected Kegg Pathways  (Kegg details for ATP1A2) (see all 15):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Insulin secretion
    Thyroid hormone synthesis
    Thyroid hormone signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP1A2
    Interactions:

        Search GeneGlobe Interaction Network for ATP1A2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ATP1A2 (P509933 ENSP000003544904) via UniProtKB, MINT, STRING, and/or I2D (see all 51)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TPT1P136933, ENSP000003683504I2D: score=1 STRING: ENSP00000368350
    GABARAPO951663I2D: score=2 
    ATG10Q9H0Y03I2D: score=1 
    ATG101Q9BSB43I2D: score=1 
    ATG12O948173I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 26):    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 ----

    Find genes that share ontologies with ATP1A2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with ATP1A2           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
    miRNA
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    Selected qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat ATP1A2
      QuantiFast Probe-based Assays in human, mouse, rat ATP1A2

    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 

    Selected AceView cDNA sequences (see all 219):

    BP346893 AI963882 F07411 CD515327 NM_000702 AA425484 AA425300 BG059603 
    N71189 BQ718301 AI937102 BQ638487 BU553035 AI990678 AI341416 H87972 
    C20831 F08479 BC013680 AI359044 BQ876809 CA396394 BI496229 N21985 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ATP1A2 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Thalamus
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             Body Subcutaneous White Adipose
             HyStem+BMP4-induced 7SMOO32 cells
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             CyT49
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
    ATP1A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP1A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.34114
        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)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for ATP1A2 gene from Selected species (see all 16)    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 --
    Uncharacterized protein
    91(a)
    1 → many
    GL344724.1(1098-20783)
    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 76.3(n)
    86.04(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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ENA16
    ENA56
    (see all 3)
    P-type ATPase sodium pump, involved in Na+ and Li+...
    Protein with similarity to P-type ATPase sodium pu...
    (see all 3)
    27(a)
    27(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    IV(535192-538467) YDR040C
    IV(527422-530697) YDR038C


    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)
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    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    ATP4A    ATP12A    DKFZp666G172
    ATP2C1    ATP2C2    ATP2A2

    Find genes that share paralogs with ATP1A2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ATP1A2 (see all 851)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs289340021,2,,4
    CAlternating hemiplegia of childhood 1 (AHC1)4 pathogenic1166594423(+) GGGCAA/CCCTCA 2 N T mis10--------
    rs289334011,2,,4
    CMigraine, familial hemiplegic, 2 (FHM2)4 pathogenic1166600906(+) TGCTCA/GAACGT 2 Q R mis1 ese30--------
    rs289334001,2,,4
    CMigraine, familial hemiplegic, 2 (FHM2)4 pathogenic1166601170(+) TGCCAC/TGGGCA 2 T M mis10--------
    rs289333981,2,,4
    CMigraine, familial hemiplegic, 2 (FHM2)4 pathogenic1166601505(+) CCGCCC/TGATCT 2 P L mis1 ese30--------
    rs289333991,2,,4
    CMigraine, familial hemiplegic, 2 (FHM2)4 pathogenic1166602325(+) TCGACC/TGGGAT 2 R W mis1 ese30--------
    VAR_0699924
    Migraine, familial hemiplegic, 2 (FHM2)4--see VAR_0699922 R W mis40--------
    VAR_0699914
    Migraine, familial hemiplegic, 2 (FHM2)4--see VAR_0699912 G S mis40--------
    VAR_0656854
    Migraine, familial hemiplegic, 2 (FHM2)4--see VAR_0656852 G R mis40--------
    rs1219186191,2
    C,Fpathogenic1166588884(+) ACCAGC/TGGGCT 2 R W mis11Minor allele frequency- T:0.00NA 4550
    rs751240671,2
    --131446204(+) AAAAAA/GCAAAC 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

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP1A2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP1A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 182340   
    OMIM disorders: 602481  104290  
    UniProtKB/Swiss-Prot: AT1A2_HUMAN, P50993
  • Migraine, familial hemiplegic, 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

  • 15 diseases for ATP1A2:    
    About MalaCards
    basilar migraine    skull base meningioma    familial hemiplegic migraine type 2    migraine, familial basilar
    sporadic hemiplegic migraine    atp1a2-related alternating hemiplegia of childhood    alternating hemiplegia of childhood    hemiplegia
    hemiplegic migraine    benign familial infantile epilepsy    migraine with aura    familial hemiplegic migraine type 1
    familial hemiplegic migraine    migraine    thyrotoxic periodic paralysis

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

    Find genes that share disorders with ATP1A2           About GenesLikeMe

    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)
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    PubMed articles for ATP1A2 gene, integrated from 10 sources (see all 197):
    (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. (Ann. Neurol. 2003)
    2. Screen for CACNA1A and ATP1A2 mutations in sporadic hemiplegic migraine patients. (PubMed id 18513263)1, 4, 9 Thomsen L.L....Olesen J. (Cephalalgia 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. (Nat. Genet. 2003)
    4. Thyrotoxic periodic paralysis and polymorphisms of sodium-potassium ATPase genes. (PubMed id 16430714)1, 4, 9 Kung A.W....Chan V. (Clin. Endocrinol. (Oxf) 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. (Am. J. Epidemiol. 2001)
    6. Association analysis of chromosome 1 migraine candidate genes. (PubMed id 17727731)1, 4, 9 Fernandez F....Griffiths L.R. (BMC Med. Genet. 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. (Ann. Neurol. 1997)
    8. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    9. Association between sodium- and potassium-activated adenosine triphosphatase alpha isoforms and bipolar disorders. (PubMed id 19058785)1, 4 Goldstein I....Lichtstein D. (Biol. Psychiatry 2009)
    10. [Association of the polymorphisms of sodium transport related genes with essential hypertension]. (PubMed id 19199261)1, 4 Gong P.Y....Zhao X. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 477 HGNC: 800 AceView: ATP1A2 Ensembl:ENSG00000018625 euGenes: HUgn477
    ECgene: ATP1A2 Kegg: 477 H-InvDB: ATP1A2

    (According to HUGE)
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    HUGE: KIAA0778

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ATP1A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ATP1A2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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