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

ATP2B1 Gene

protein-coding   GIFtS: 63
GCID: GC12M089981

ATPase, Ca++ transporting, plasma membrane 1
 Explore 9 diseases affiliated with
ATP2B1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ATP2B1    

Aliases
for ATP2B1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
ATPase, Ca++ Transporting, Plasma Membrane 11 2     Plasma Membrane Calcium-Transporting ATPase 12
PMCA11 2 3 5     Plasma Membrane Calcium ATPase Isoform 13
EC 3.6.3.83 8     Plasma Membrane Calcium Pump Isoform 13
PMCA1kb2     EC 3.6.38
Plasma Membrane Calcium Pump2     

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


Summaries
for ATP2B1 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
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

Proteins
for ATP2B1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
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    Uscn Proteins for ATP2B1

    Gene Ontology (GO): 3 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:0016021integral to membrane ----


    ATP2B1 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for ATP2B1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ATP2B1 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR023298 ATPase_P-typ_TM_dom
     IPR023306 ATPase_cation_domN
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR006408 ATPase_P-typ_Ca-transp_plasma

    Graphical View of Domain Structure for InterPro Entry P20020

    ProtoNet protein and cluster: P20020

    3 Blocks protein families:
    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


    Function
    for ATP2B1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    8/88 QIAGEN miScript miRNA Assays for microRNAs that regulate ATP2B1 (see all 88):
    hsa-miR-3130-5p hsa-miR-3938 hsa-miR-607 hsa-miR-640 hsa-miR-128 hsa-miR-1260b hsa-miR-3653 hsa-miR-30d
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    Gene Editing
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005388calcium-transporting ATPase activity IEA--
    GO:0005515protein binding IPI12763866
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
    GO:0046872metal ion binding IEA--


    ATP2B1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Atp2b1tm1Ges for ATP2B1
         3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Atp2b1):
     cardiovascular system  mortality/aging  muscle 

    ATP2B1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ATP2B1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ion channel transport
    		Ion channel transport1.00
    		Ion transport by P-type ATPases0.32
    2Platelet calcium homeostasis
    		Platelet calcium homeostasis1.00
    		Reduction of cytosolic Ca++ levels0.53
    3C-MYB transcription factor network
    		C-MYB transcription factor network1.00
    4Mineral absorption
    		Mineral absorption1.00
    5Pancreatic secretion
    		Pancreatic secretion1.00

    Pathway sources
    See GeneCards unified pathways
    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 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006754ATP biosynthetic process IEA--
    GO:0006810transport TAS8396145
    GO:0007596blood coagulation TAS--
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--


    ATP2B1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ATP2B1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 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 

    Transcripts
    for ATP2B1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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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    hsa-miR-3130-5p hsa-miR-3938 hsa-miR-607 hsa-miR-640 hsa-miR-128 hsa-miR-1260b hsa-miR-3653 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmid: ATP2B1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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):

    AU131231 CA773578 AA731599 AI783809 AA736697 U15686 AI859270 AA442913 
    BX440983 AL602562 CR598557 AI570253 AI358433 AK024895 BQ776298 AW273091 
    BQ014231 CA446744 BE326691 Z99413 AK027053 BU618992 M95541 AA952981 

    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

    Expression
    for ATP2B1 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAATGGAAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ATP2B1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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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    In Situ
    Assay Products:     
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    Orthologs
    for ATP2B1 gene

    (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 8/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 90(a)
    		 1 ↔ 1
    		 5(32806505-32851649)
    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 
    fruit fly
    (Drosophila melanogaster)    		 Insecta BEST:CK011403 calcium-transporting ATPase 63(a)   102B5   --
    worm
    (Caenorhabditis elegans)    		 Secernentea R05C11.33 ATPase 58(a)
    (best of 2)    		   IV(2084056-2091420)   --
    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
    for ATP2B1 gene

    (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


    Genomic Variants
    for ATP2B1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1007 NCBI SNPs in ATP2B1 are shown (see all 1007)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs26814771,2
    		H--87047333(-) TTATCT/AGAACT 2 -- ds50014Minor allele frequency- A:0.00NS EA 418
    rs792249351,2
    		C,F,--87048264(+) CACACT/AAAGCA 2 -- ut311Minor allele frequency- A:0.09WA 118
    rs1895104631,2
    		C--87050047(+) ACCCCC/TTNNNN 2 -- ut310--------
    rs1998028011,2
    		C--87050188(+) ATAAAA/CATAAA 2 -- ut310--------
    rs1147013861,2
    		C,F,--87050220(+) AACAGC/TAGAAA 2 -- ut311Minor allele frequency- T:0.03WA 118
    rs762048831,2
    		C,--87052017(+) AGATGC/TGGTCA 2 -- int12Minor allele frequency- T:0.04WA 120
    rs123146151,2
    		C,F,H,--87052306(+) cggtcA/Caacag 2 -- int16Minor allele frequency- C:0.02NS EA WA 540
    rs2017522651,2
    		C--87052933(-) CCAACA/TAATTT 2 -- int10--------
    rs734350821,2
    		C,--87053100(+) TTTCTG/ATGTAT 2 -- int12Minor allele frequency- A:0.04WA 120
    rs26814801,2
    		H--87053118(+) TTTTCC/AATCTG 2 -- int14Minor allele frequency- A:0.00NS EA 420

    HapMap Linkage Disequilibrium report for ATP2B1 (89981826 - 90103077 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATP2B1: --

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    Disorders / Diseases
    for ATP2B1 gene

    (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
    ATP2B1 for disorders           About GeneDecksing

    OMIM gene information: 108731    OMIM disorders: --

    9 diseases for ATP2B1:    About MalaCards
    essential hypertension    breast cancer    oral cancer    hypertension
    alzheimer's disease    pneumonia    tuberculosis    pancreatitis
    mycobacterium tuberculosis

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

    2 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: ATP2B1 (14 documents)

    Export disorders for ATP2B1 gene to outside databases

    Publications
    for ATP2B1 gene

    (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 99):
    (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. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    4. Investigation of the Met-267 Arg exchange in isoform 1 of the human plasma membrane calcium pump in patients with essential hypertension by the amplification-created restriction site technique. (PubMed id 9020386)1, 2 Benkwitz C.... Neyses L. (1997)
    5. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 7989379)1, 2 Stauffer T.P....Strehler E.E. (1994)
    6. Human and rat intestinal plasma membrane calcium pump isoforms. (PubMed id 7694502)1, 2 Howard A.... Walters J.R. (1993)
    7. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 8245032)1, 2 Stauffer T.P.... Strehler E.E. (1993)
    8. Molecular cloning of a plasma membrane calcium pump from human osteoblasts. (PubMed id 8386431)1, 2 Kumar R.... Penniston J.T. (1993)
    9. Study of calmodulin binding to the alternatively spliced C-terminal domain of the plasma membrane Ca2+ pump. (PubMed id 1332771)1, 2 Kessler F.... Carafoli E. (1992)
    10. Protein kinase C phosphorylates the carboxyl terminus of the plasma membrane Ca(2+)-ATPase from human erythrocytes. (PubMed id 1827443)1, 2 Wang K.K.W....Roufogalis B.D. (1991)

    External Searches for ATP2B1 gene

    (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)

    Genome Databases showing ATP2B1 gene

    (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

    Other Databases showing ATP2B1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ATP2B1 gene

    (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

    Intellectual Property
    for ATP2B1 gene

    (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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