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ATP1B2 Gene

protein-coding   GIFtS: 67
GCID: GC17P007574

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

  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)
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Aliases
ATPase, Na+/K+ Transporting, Beta 2 Polypeptide1 2     Sodium/Potassium-Dependent ATPase Subunit Beta-22 3
AMOG2 3 5     Adhesion Molecule On Glia2
Sodium Pump Subunit Beta-21 2     Na, K-ATPase Beta-2 Polypeptide2
Sodium-Potassium ATPase Subunit Beta 2 (Non-Catalytic)1 2     Sodium/Potassium-Dependent ATPase Beta-2 Subunit2
Sodium/Potassium-Transporting ATPase Subunit Beta-21 2     Sodium/Potassium-Transporting ATPase Beta-2 Chain2
Adhesion Molecule In Glia2 3     

External Ids:    HGNC: 8051   Entrez Gene: 4822   Ensembl: ENSG000001292447   OMIM: 1823315   UniProtKB: P144153   

Export aliases for ATP1B2 gene to outside databases

Previous GC identifers: GC17M008057 GC17P008294 GC17P007497 GC17P007755 GC17P007754 GC17P007494 GC17P007554 GC17P007448 GC17P007557 GC17P007567


(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 ATP1B2 Gene:
The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, 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 beta subunit regulates, through assembly of
alpha/beta heterodimers, the number of sodium pumps transported to the plasma membrane. The glycoprotein subunit
of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes a beta 2 subunit. (provided by RefSeq, Jul
2008)

GeneCards Summary for ATP1B2 Gene:
ATP1B2 (ATPase, Na+/K+ transporting, beta 2 polypeptide) is a protein-coding gene. Diseases associated with ATP1B2 include familial hemiplegic migraine type 2, and x-linked juvenile retinoschisis. GO annotations related to this gene include sodium:potassium-exchanging ATPase activity. An important paralog of this gene is ATP1B1.

UniProtKB/Swiss-Prot: AT1B2_HUMAN, P14415
Function: This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled
with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is
not known
Function: Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth (By similarity)

summary for ATP1B2 Gene:
Na+,K+-ATPase is an ion pump responsible for maintaining sodium and potassium electrochemical gradients
across the plasma membrane.




(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:
NC_000017.11  NC_018928.2  NT_010718.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP1B2 gene promoter:
         AREB6   PPAR-gamma1   NF-1   RREB-1   MyoD   PPAR-gamma2   POU3F2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP1B2 promoter sequence
   Search Chromatin IP Primers for ATP1B2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATP1B2


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

Entrez Gene cytogenetic band: 17p13.1   Ensembl cytogenetic band:  17p13.1   HGNC cytogenetic band: 17p13.1

ATP1B2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP1B2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P007574:  view genomic region     (about GC identifiers)

Start:
7,549,945 bp from pter      End:
7,561,089 bp from pter
Size:
11,145 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AT1B2_HUMAN, P14415 (See protein sequence)
Recommended Name: Sodium/potassium-transporting ATPase subunit beta-2  
Size: 290 amino acids; 33367 Da
Subunit: Composed of three subunits: alpha (catalytic), beta and gamma
Secondary accessions: A0AV17 A8K278 D3DTQ2 O60444

Explore the universe of human proteins at neXtProt for ATP1B2: NX_P14415

Explore proteomics data for ATP1B2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn96, Asn118, Asn153, Asn159, Asn193, Asn197, Asn238
  • Modification sites at PhosphoSitePlus

  • See ATP1B2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001669.3  
    ENSEMBL proteins: 
     ENSP00000459145   ENSP00000250111   ENSP00000460499  
    Reactome Protein details: P14415

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    (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: beta2
    Na+/K+-ATPase

    1 InterPro protein domain:
     IPR000402 Na/K_ATPase_sub_beta

    Graphical View of Domain Structure for InterPro Entry P14415

    ProtoNet protein and cluster: P14415

    1 Blocks protein domain: IPB000402 Na+/K+ ATPase

    UniProtKB/Swiss-Prot: AT1B2_HUMAN, P14415
    Domain: The C-terminal lobe folds into an immunoglobulin-like domain and mediates cell adhesion properties (By
    similarity)
    Similarity: Belongs to the X(+)/potassium ATPases subunit beta family


    ATP1B2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT1B2_HUMAN, P14415
    Function: This is the non-catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled
    with the exchange of Na(+) and K(+) ions across the plasma membrane. The exact function of the beta-2 subunit is
    not known
    Function: Mediates cell adhesion of neurons and astrocytes, and promotes neurite outgrowth (By similarity)

         Genatlas biochemistry entry for ATP1B2:
    ATPase,Na+K+ beta 2 polypeptide,putative adhesion molecule on glia,specific

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005391sodium:potassium-exchanging ATPase activity TAS2538450
    GO:0005515protein binding IPI11027149
         
    ATP1B2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ATP1B2:
     Increased G1 DNA content  Increased cell number in G1, a 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Atp1b2):
     behavior/neurological  cellular  mortality/aging  nervous system  vision/eye 

    ATP1B2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp1b2tm1Msch for ATP1B2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP1B2
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP1B2

    miRNA
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    miRTarBase miRNAs that target ATP1B2:
    hsa-mir-335-5p (MIRT019110)

    Block miRNA regulation of human, mouse, rat ATP1B2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP1B2 (see all 52):
    hsa-miR-3678-3p hsa-miR-1321 hsa-miR-1245 hsa-miR-877* hsa-miR-4314 hsa-miR-1184 hsa-miR-520g hsa-miR-3170
    SwitchGear 3'UTR luciferase reporter plasmidATP1B2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATP1B2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1B2


    (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
    AT1B2_HUMAN, P14415: Cell membrane; Single-pass type II membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1
    extracellular1
    golgi apparatus1
    mitochondrion1
    nucleus1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0005890sodium:potassium-exchanging ATPase complex IEA--

    ATP1B2 for ontologies           About GeneDecksing


    (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 ATP1B2 About   (see all 23)                                                                                              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
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5Neuropathic Pain-Signaling in Dorsal Horn Neurons
    Aldosterone Signaling in Epithelial Cells0.47

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ATP1B2
        Hepatic ABC Transporters
    Aldosterone Signaling in Epithelial Cells

    1 BioSystems Pathway for ATP1B2
        Calcium Regulation in the Cardiac Cell


    2 Reactome Pathways for ATP1B2
        Ion transport by P-type ATPases
    Basigin interactions


    Selected Kegg Pathways  (Kegg details for ATP1B2) (see all 15):
        Cardiac muscle contraction
    Adrenergic signaling in cardiomyocytes
    Insulin secretion
    Thyroid hormone synthesis
    Thyroid hormone signaling pathway


    ATP1B2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP1B2
    Interactions:

        GeneGlobe Interaction Network for ATP1B2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ATP1B2 (P144153 ENSP000002501114) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    NGBQ9NPG23, ENSP000002983524I2D: score=1 STRING: ENSP00000298352
    DLG4P783523I2D: score=1 
    RS1O155373I2D: score=1 
    ATP1B1ENSP000003567894STRING: ENSP00000356789
    ATP1B3ENSP000002863714STRING: ENSP00000286371
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS2538450
    GO:0006813potassium ion transport ----
    GO:0006814sodium ion transport ----
    GO:0007155cell adhesion IEA--
    GO:0007596blood coagulation TAS--

    ATP1B2 for ontologies           About GeneDecksing



    (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 ATP1B2 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 ATP1B2    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--



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ATP1B2 gene: 
    NM_001678.3  

    Unigene Cluster for ATP1B2:

    ATPase, Na+/K+ transporting, beta 2 polypeptide
    Hs.643540  [show with all ESTs]
    Unigene Representative Sequence: NM_001678
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000577026 ENST00000250111(uc002gif.1) ENST00000577113
    miRNA
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    hsa-miR-3678-3p hsa-miR-1321 hsa-miR-1245 hsa-miR-877* hsa-miR-4314 hsa-miR-1184 hsa-miR-520g hsa-miR-3170
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      QuantiFast Probe-based Assays in human, mouse, rat ATP1B2

    Additional mRNA sequence: 

    AK290143.1 AY946017.1 BC035801.1 BC126175.1 D87330.1 M81181.1 U45945.1 

    4 DOTS entries:

    DT.92447964  DT.100811679  DT.115586  DT.92447966 

    Selected AceView cDNA sequences (see all 160):

    BE550304 BM674199 BC035801 AW131864 BM715871 BM661475 BM689476 F01423 
    AI656367 H08829 NM_001678 AI085636 AA457434 AL120033 AI589796 AA457385 
    AA326400 BM925700 BM681927 AW055079 BE503510 BV184310 BQ718053 BG011091 

    GeneLoc Exon Structure


    (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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    ATP1B2 expression in normal human tissues (normalized intensities)      ATP1B2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTCTCTCTCT
    ATP1B2 Expression
    About this image


    ATP1B2 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 6 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Metencephalon
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Pre-Sertoli Cells Testis Cord
             Seminiferous Tubules
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
     
     Bone (Muscoskeletal System)
             Zeugopod Epiphyseal End
    ATP1B2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP1B2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643540
        Custom PCR Arrays for ATP1B2
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    QuantiFast Probe-based Assays in human, mouse, rat ATP1B2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATP1B2

    (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.

    Orthologs for ATP1B2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp1b21 , 5 ATPase, Na+/K+ transporting, beta 2 polypeptide1, 5 90.92(n)1
    97.24(a)1
      11 (42.86 cM)5
    119321  NM_013415.51  NP_038201.11 
     695997365 
    lizard
    (Anolis carolinensis)
    Reptilia ATP1B26
    ATPase, Na+/K+ transporting, beta 2 polypeptide
    61(a)
    1 ↔ 1
    GL343660.1(289295-302856)
    African clawed frog
    (Xenopus laevis)
    Amphibia atp1b2-prov2 ATPase, Na+/K+ transporting, beta 2 polypeptide 77.53(n)    BC046269.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp1b2b2 ATPase, Na+/K+ transporting, beta 2b polypeptide 72.72(n)   114457  AF373976.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta nrv11 nervana 1 47.99(n)
    35.02(a)
      33952  NM_057819.4  NP_477167.1 
    worm
    (Caenorhabditis elegans)
    Secernentea nkb-36
    nkb-16
    Protein NKB-1 (nkb-1) mRNA, complete cds
    25(a)
    24(a)
    many ↔ many
    many ↔ many
    X(13765353-13770558) WBGene00010117
    I(9431249-9433811) WBGene00007646


    ENSEMBL Gene Tree for ATP1B2 (if available)
    TreeFam Gene Tree for ATP1B2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATP1B2 gene
    ATP1B12  ATP1B32  ATP1B42  ATP4B2  
    4 SIMAP similar genes for ATP1B2 using alignment to 4 protein entries:     AT1B2_HUMAN (see all proteins):
    ATP1B4    ATP4B    ATP1B3    ATP1B1

    ATP1B2 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), 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 ATP1B2 (see all 231)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1493338151,2
    --7552259(+) CTGGGA/GTAGAC 1 -- us2k10--------
    rs1505888961,2
    C--7552352(+) ACTCC-/CATT  
            
    CATTC
    1 -- us2k10--------
    rs777008511,2
    C--7552562(-) GAAACC/TCCATC 1 -- us2k13Minor allele frequency- T:0.00NA CSA 7
    rs800775901,2
    C,F--7552570(-) AATGTA/GGTGAA 1 -- us2k13Minor allele frequency- G:0.40NA 10
    rs1135171391,2
    C,F--7552684(+) ACTGGG/CCCTGG 1 -- us2k12Minor allele frequency- C:0.05WA 120
    rs1821818531,2
    --7552728(+) TGAGAC/TGAAGT 1 -- us2k10--------
    rs1445914311,2
    --7552791(+) AGCTCC/TGCCTC 1 -- us2k10--------
    rs1393717971,2
    --7552799(+) CTCCCA/GGGTTC 1 -- us2k10--------
    rs1867099851,2
    --7552887(+) TTTTTA/TTTATT 1 -- us2k10--------
    rs16415141,2
    C,H--7552909(-) tgggcG/Aacaga 1 -- us2k17Minor allele frequency- A:0.08NA WA CSA 13

    HapMap Linkage Disequilibrium report for ATP1B2 (7549945 - 7561089 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ATP1B2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv907652CNV Loss21882294
    nsv457659CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP1B2
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP1B2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 182331    OMIM disorders: --

    18 diseases for ATP1B2:    About MalaCards
    familial hemiplegic migraine type 2    x-linked juvenile retinoschisis    familial hemiplegic migraine    thyrotoxic periodic paralysis
    hemiplegic migraine    retinoschisis    migraine    lung cancer susceptibility
    astrocytoma    lung cancer    retinitis    ovarian cancer
    pancreatitis    hepatitis    breast cancer    prostatitis
    thyroiditis    neuronitis


    ATP1B2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): ATP1B2
    Human Genome Epidemiology (HuGE) Navigator: ATP1B2 (7 documents)

    Export disorders for ATP1B2 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 ATP1B2 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with ATP1B2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Genetic susceptibility to distinct bladder cancer subphenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (Eur. Urol. 2010)
    3. PTEN identified as important risk factor of chronic obstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (Respir Med 2009)
    4. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (Environ. Mol. Mutagen. 2009)
    5. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (Carcinogenesis 2008)
    6. Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study. (PubMed id 17411440)1, 4 Garcia-Closas M....Chanock S.J. (BMC Cancer 2007)
    7. Common genetic variation in TP53 and its flanking genes, WDR79 and ATP1B2, and susceptibility to breast cancer. (PubMed id 17683073)1, 4 Garcia-Closas M....Chanock S. (Int. J. Cancer 2007)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Structure and expression of the human Na,K-ATPase beta 2-subunit gene. (PubMed id 9524271)1, 2 Avila J....Martin-Vasallo P. (Gene 1998)
    10. Expression and synthesis of the Na,K-ATPase beta 2 subunit in human retinal pigment epithelium. (PubMed id 8918259)1, 2 Ruiz A.C.... Bok D. (Gene 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 482 HGNC: 805 AceView: ATP1B2 Ensembl:ENSG00000129244 euGenes: HUgn482
    ECgene: ATP1B2 Kegg: 482 H-InvDB: ATP1B2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP1B2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATP1B2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ATP1B2 gene:
    Search GeneIP for patents involving ATP1B2

    Licensable Technologies for ATP1B2 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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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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