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

ATP2B1 Gene

protein-coding   GIFtS: 67
GCID: GC12M089981

ATPase, Ca++ Transporting, Plasma Membrane 1

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(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, Ca++ Transporting, Plasma Membrane 11 2     Plasma Membrane Calcium Pump2
PMCA12 3 5     Plasma Membrane Calcium ATPase Isoform 13
Plasma Membrane Calcium-Transporting ATPase 11 2     Plasma Membrane Calcium Pump Isoform 13
EC 3.6.3.83 8     EC 3.6.38
PMCA1kb2     

External Ids:    HGNC: 8141   Entrez Gene: 4902   Ensembl: ENSG000000709617   OMIM: 1087315   UniProtKB: P200203   

Export aliases for ATP2B1 gene to outside databases

Previous GC identifers: GC12M089402 GC12M090431 GC12M089916 GC12M088486 GC12M088484 GC12M087047


(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 ATP2B1 Gene:
The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by
the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent
calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in
intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least
four separate genes and the diversity of these enzymes is further increased by alternative splicing of
transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue-
and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of
particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively
spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP2B1 Gene: 
ATP2B1 (ATPase, Ca++ transporting, plasma membrane 1) is a protein-coding gene. Diseases associated with ATP2B1 include essential hypertension, and oral cancer, and among its related super-pathways are Platelet calcium homeostasis and Ion channel transport. GO annotations related to this gene include calcium-transporting ATPase activity and calmodulin binding. An important paralog of this gene is ATP2B2.

UniProtKB/Swiss-Prot: AT2B1_HUMAN, P20020
Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium
out of the cell

Gene Wiki entry for ATP2B1 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_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP2B1 gene promoter:
         ATF-2   AP-4   CUTL1   POU6F1 (c2)   Tal-1beta   Evi-1   FOXL1   AREB6   Chx10   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATP2B1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP2B1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP2B1


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

Entrez Gene cytogenetic band: 12q21.3   Ensembl cytogenetic band:  12q21.33   HGNC cytogenetic band: 12q21.33

ATP2B1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2B1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M089981:  view genomic region     (about GC identifiers)

Start:
89,981,826 bp from pter      End:
90,103,077 bp from pter
Size:
121,252 bases      Orientation:
minus 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: AT2B1_HUMAN, P20020 (See protein sequence)
Recommended Name: Plasma membrane calcium-transporting ATPase 1  
Size: 1258 amino acids; 138755 Da
Subunit: Interacts with PDZD11
Subcellular location: Cell membrane; Multi-pass membrane protein
Secondary accessions: Q12992 Q12993 Q13819 Q13820 Q13821 Q16504 Q93082
Alternative splicing: 6 isoforms:  P20020-1   P20020-2   P20020-3   P20020-4   P20020-5   P20020-6   

Explore the universe of human proteins at neXtProt for ATP2B1: NX_P20020

Explore proteomics data for ATP2B1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20020

  • 4/61 DME Specific Peptides for ATP2B1 (P20020) (see all 61)
     QFQLTVN  SSLTGES  PGSPLHS  IRNEKGE 

    ATP2B1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP2B1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001001323.1  NP_001673.2  

    ENSEMBL proteins: 
     ENSP00000352054   ENSP00000392043   ENSP00000376869   ENSP00000447096   ENSP00000447041  
     ENSP00000261173   ENSP00000343599  
    Reactome Protein details: P20020
    Human Recombinant Protein Products for ATP2B1: 
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    Cloud-Clone Corp. Proteins for ATP2B1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS8396145
    GO:0016020membrane ----
    GO:0016021integral to membrane ----

    ATP2B1 for ontologies           About GeneDecksing



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    (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: PMCA1 
    Ca2+-ATPases

    5/10 InterPro protein domains (see all 10):
     IPR023298 ATPase_P-typ_TM_dom
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR006408 ATPase_P-typ_Ca-transp_plasma
     IPR023214 HAD-like_dom

    Graphical View of Domain Structure for InterPro Entry P20020

    ProtoNet protein and cluster: P20020

    3 Blocks protein domains:
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT2B1_HUMAN, P20020
    Domain: The calmodulin-binding subdomain B is different in the different splice variants and shows pH dependent
    calmodulin binding properties in isoforms A, C, D and E
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily


    ATP2B1 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: AT2B1_HUMAN, P20020
    Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium
    out of the cell
    Catalytic activity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2)

         Genatlas biochemistry entry for ATP2B1:
    ATPase,Ca++ transporting,B1plasma membrane,mediating the extrusion of CA2+ from the cell

         Enzyme Numbers (IUBMB): EC 3.6.3.81 2 EC 3.6.32

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005388calcium-transporting ATPase activity IEA--
    GO:0005515protein binding IPI12763866
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
         
    ATP2B1 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp2b1):
     cardiovascular system  mortality/aging  muscle 

    ATP2B1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp2b1tm1Ges for ATP2B1

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    SwitchGear 3'UTR luciferase reporter plasmidATP2B1 3' UTR sequence
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    (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 ATP2B1 About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Platelet calcium homeostasis
    Platelet calcium homeostasis0.53
    Reduction of cytosolic Ca++ levels0.53
    2Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50
    5Platelet activation, signaling and aggregation
    Hemostasis0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for ATP2B1
        Intracellular Calcium Signaling

    2 BioSystems Pathways for ATP2B1
        Calcium Regulation in the Cardiac Cell
    C-MYB transcription factor network

    5/7        Reactome Pathways for ATP2B1 (see all 7)
        Hemostasis
    Transmembrane transport of small molecules
    Ion channel transport
    Platelet homeostasis
    Ion transport by P-type ATPases


    5         Kegg Pathways  (Kegg details for ATP2B1):
        Calcium signaling pathway
    Endocrine and other factor-regulated calcium reabsorption
    Salivary secretion
    Pancreatic secretion
    Mineral absorption


    ATP2B1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATP2B1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/16 Interacting proteins for ATP2B1 (P200202, 3 ENSP000002611734) via UniProtKB, MINT, STRING, and/or I2D (see all 16)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAEP622582, 3, ENSP000002643354MINT-8008070 I2D: score=1 STRING: ENSP00000264335
    CALM1P621583, ENSP000003494674I2D: score=2 STRING: ENSP00000349467
    CALM2P621583I2D: score=2 
    CALM3P621583I2D: score=2 
    BCRP112742, 3, ENSP000003035074MINT-69534 I2D: score=1 STRING: ENSP00000303507
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8396145
    GO:0006812cation transport ----
    GO:0007596blood coagulation TAS--
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    ATP2B1 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

    ATP2B1 for compounds           About GeneDecksing

    EMD Millipore small molecules for ATP2B1:
    Small Molecule - inhibitor
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    6 HMDB Compounds for ATP2B1    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--
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--
    PhosphateNFB Orthophosphate (see all 13)14265-44-2--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    3 Novoseek inferred chemical compound relationships for ATP2B1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p-mca 92.9 4 8700162 (1), 16452157 (1), 16328033 (1), 12359307 (1)
    calcium 58.6 19 17669706 (2), 19779013 (2), 7554945 (1), 7501994 (1) (see all 13)
    1,25 dihydroxy vitamin d3 41 1 11277270 (1)

    Search CenterWatch for drugs/clinical trials and news about ATP2B1 / AT2B1

    (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 ATP2B1 gene (2 alternative transcripts): 
    NM_001001323.1  NM_001682.2  

    Unigene Cluster for ATP2B1:

    ATPase, Ca++ transporting, plasma membrane 1
    Hs.506276  [show with all ESTs]
    Unigene Representative Sequence: NM_001001323
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359142(uc009zsr.3 uc001tbg.3) ENST00000428670 ENST00000393164
    ENST00000550716 ENST00000552275 ENST00000551009 ENST00000549727 ENST00000549585
    ENST00000551310 ENST00000261173(uc001tbh.3) ENST00000348959(uc001tbf.3)


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    Additional mRNA sequence: 

    AB208896.1 AF070606.1 AK024895.1 AK027053.1 AK308723.1 AY740526.1 BC015346.1 DQ201776.1 
    J04027.1 M95541.1 S49852.1 U15686.1 U15687.1 

    9 DOTS entries:

    DT.316081  DT.100773335  DT.91761431  DT.100773334  DT.91818069  DT.92059953  DT.100810094  DT.95230337 
    DT.91891941 

    24/295 AceView cDNA sequences (see all 295):

    BI964829 AL134557 BQ002401 AW769967 CK725072 BF432072 AI056839 BM455624 
    BQ948286 AI765979 AW273091 BM833243 AI865462 CB069114 BE326691 AU131231 
    CA417188 BQ776298 CA446744 BG255337 AW576457 AI570253 BQ014231 AI470448 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B1 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                  -         
    SP3:                                                                                                                                      -           -         
    SP4:                    -                                                                                                                                       
    SP5:                                                                          -                                                                                 


    ECgene alternative splicing isoforms for ATP2B1

    (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

    ATP2B1 expression in normal human tissues (normalized intensities)      ATP2B1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATGGAAGG
    ATP2B1 Expression
    About this image


    ATP2B1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
             Caudate nucleus   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
             Retina
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             Ureter
             visceral organ   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract

    See ATP2B1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP2B1

    SOURCE GeneReport for Unigene cluster: Hs.506276

    UniProtKB/Swiss-Prot: AT2B1_HUMAN, P20020
    Tissue specificity: Isoform B is ubiquitously expressed. Isoform C is found in brain cortex, skeletal muscle and
    heart muscle. Isoform D has only been found in fetal skeletal muscle. Isoform K has been found in small intestine
    and liver

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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 eukaryotes.

    Orthologs for ATP2B1 gene from 8/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2b11 , 5 ATPase, Ca++ transporting, plasma membrane 11, 5 90.79(n)1
    99.51(a)1
      10 (50.97 cM)5
    679721  NM_026482.21  NP_080758.11 
     989151525 
    chicken
    (Gallus gallus)
    Aves ATP2B11 ATPase, Ca++ transporting, plasma membrane 1 85.06(n)
    95.19(a)
      374244  NM_001168002.1  NP_001161474.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP2B16
    Uncharacterized protein
    91(a)
    1 ↔ 1
    5(32806277-32851649)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.255382 Xenopus laevis transcribed sequence with moderate similarity more 79.74(n)    CA982377.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp2b1a1 ATPase, Ca++ transporting, plasma membrane 1a 74.09(n)
    86.31(a)
      378746  NM_001044757.1  NP_001038222.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMC16
    Vacuolar Ca2+ ATPase involved in depleting cytosol...
    35(a)
    1 → many
    VII(485921-489442)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACA81 calcium-transporting ATPase 8 52.67(n)
    45.13(a)
      835815  NM_180869.3  NP_851200.1 
    rice
    (Oryza sativa)
    Liliopsida Os04g06055001 hypothetical protein 50.84(n)
    44.71(a)
      4336912  NM_001060330.1  NP_001053795.1 


    ENSEMBL Gene Tree for ATP2B1 (if available)
    TreeFam Gene Tree for ATP2B1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP2B1 gene
    ATP2B22  ATP2B32  ATP2B42  
    6 SIMAP similar genes for ATP2B1 using alignment to 7 protein entries:     AT2B1_HUMAN (see all proteins):
    PMCA2    ATP2B2    ATP2B2 variant protein    ATP2B3    DKFZp686M088    ATP2B4

    ATP2B1 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ATP2B1
    PGOHUM00000260429


    (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

    10/1256 SNPs in ATP2B1 are shown (see all 1256)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0006984
    ----see VAR_0006982 M R mis40--------
    rs26814771,2
    H--89829164(-) TTATCT/AGAACT 2 -- ds50014Minor allele frequency- A:0.00NS EA 418
    rs1507328881,2
    --89829279(+) GAAATG/TATCTA 2 -- ds50010--------
    rs1837558671,2
    C--89829296(+) TATAAC/GGGTTG 2 -- ds50010--------
    rs1878265781,2
    --89829618(+) CATCAC/TTGAAA 2 -- ut310--------
    rs1909896541,2
    --89829729(+) CAAATA/CACCAA 2 -- ut310--------
    rs1821880931,2
    --89829993(+) TAATGA/GGATCC 2 -- ut310--------
    rs1450693151,2
    --89829999(+) GATCCA/GAGATC 2 -- ut310--------
    rs792249351,2
    C,F--89830096(+) CACACT/AAAGCA 2 -- ut311Minor allele frequency- A:0.09WA 118
    rs1867895681,2
    --89830368(+) GAAAGA/GGTTCT 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ATP2B1 (89981826 - 90103077 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ATP2B1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832479CNV Gain17160897

    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: 108731    OMIM disorders: --

    8 diseases for ATP2B1:    About MalaCards
    essential hypertension    oral cancer    hypertension    tuberculosis
    alzheimer's disease    breast cancer    pancreatitis    endotheliitis

    1 disease from the University of Copenhagen DISEASES database for ATP2B1:
    Hypertension

    ATP2B1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    2 Novoseek inferred disease relationships for ATP2B1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 0 1 12359307 (1)
    cancer 0 1 16328033 (1)

    Genetic Association Database (GAD): ATP2B1
    Human Genome Epidemiology (HuGE) Navigator: ATP2B1 (14 documents)

    Export disorders for ATP2B1 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 ATP2B1 gene, integrated from 9 sources (see all 106):
    (articles sorted by number of sources associating them with ATP2B1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure of the gene encoding the human plasma membrane calcium pump isoform 1. (PubMed id 8396145)1, 2, 9 Hilfiker H....Strehler E.E. (1993)
    2. Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23. (PubMed id 1674727)1, 3, 9 Olson S....McBride O.W. (1991)
    3. Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. (PubMed id 21909110)1, 4 Wain L.V....van Duijn C.M. (2011)
    4. Meta-analysis of genome-wide association studies iden tifies common variants associated with blood pressure variation in east Asians. (PubMed id 21572416)1, 4 Kato N....He J. (2011)
    5. Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. (PubMed id 20414254)1, 4 Hong K.W....Oh B. (2010)
    6. Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loc i are related to blood pressure and/or hypertension in two Korean cohorts. (PubMed id 19960030)1, 4 Hong K.W....Oh B. (2010)
    7. Blood pressure and hypertension are associated with 7 loci in the Japanese population. (PubMed id 20479155)1, 4 Takeuchi F....Kato N. (2010)
    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. A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits. (PubMed id 19396169)1, 4 Cho Y.S....Kim H.L. (2009)
    10. Genome-wide association study of blood pressure and hypertension. (PubMed id 19430479)1, 4 Levy D....van Duijn C.M. (2009)

    (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: 490 HGNC: 814 AceView: ATP2B1 Ensembl:ENSG00000070961 euGenes: HUgn490
    ECgene: ATP2B1 Kegg: 490 H-InvDB: ATP2B1

    (According to HUGE)
    About This Section
      --

    (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 ATP2B1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP2B1 gene:
    Search GeneIP for patents involving ATP2B1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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