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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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   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 Chromatin IP Primers for ATP2B1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • Ubiquitination2 at Lys19, Lys62, Lys193, Lys256, Lys622, Lys634, Lys806, Lys1172
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP2B1 (P20020) (see all 61)
     QFQLTVN  SSLTGES  PGSPLHS  IRNEKGE 


    See ATP2B1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000352054   ENSP00000392043   ENSP00000376869   ENSP00000447096   ENSP00000447041  
     ENSP00000261173   ENSP00000343599  
    Reactome Protein details: P20020

    ATP2B1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ATP2B1

     
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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: PMCA1
    Ca2+-ATPases

    Selected InterPro protein domains (see all 10):
     IPR023298 ATPase_P-typ_TM_dom
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR006408 ATPase_P-typ_Ca-transp_plasma
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N

    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


    Find genes that share domains with ATP2B1           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: 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): Selected molecular function terms (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--
         
    Find genes that share ontologies with ATP2B1           About GenesLikeMe


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

    Find genes that share phenotypes with ATP2B1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atp2b1tm1Ges for ATP2B1

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    miRTarBase miRNAs that target ATP2B1:
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    Selected qRT-PCR 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
    SwitchGear 3'UTR luciferase reporter plasmidATP2B1 3' UTR sequence
    Inhib. RNA
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    (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
    AT2B1_HUMAN, P20020: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol2
    endoplasmic reticulum2
    nucleus1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS8396145
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0070062extracellular vesicular exosome IDA--

    Find genes that share ontologies with ATP2B1           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 ATP2B1 About   (see all 14)  
    See pathways by source

    SuperPathContained pathways About
    1Platelet homeostasis
    Platelet homeostasis
    Platelet calcium homeostasis0.00
    Reduction of cytosolic Ca++ levels0.00
    2Ion channel transport
    Ion channel transport0.58
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    5Hemostasis
    Hemostasis0.43


    Find genes that share SuperPaths with ATP2B1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

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

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

    2 Reactome Pathways for ATP2B1
        Ion transport by P-type ATPases
    Reduction of cytosolic Ca++ levels


    Selected Kegg Pathways  (Kegg details for ATP2B1) (see all 6):
        Calcium signaling pathway
    Adrenergic signaling in cardiomyocytes
    Endocrine and other factor-regulated calcium reabsorption
    Salivary secretion
    Pancreatic secretion

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP2B1
    Interactions:

        Search GeneGlobe Interaction Network for ATP2B1

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

    Selected Interacting proteins for ATP2B1 (P200202, 3 ENSP000002611734) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    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): Selected biological process terms (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--

    Find genes that share ontologies with ATP2B1           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 

    Browse Tocris compounds for ATP2B1 (AT2B1)

    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)



    Find genes that share compounds with ATP2B1           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 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
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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 

    Selected AceView cDNA sequences (see all 295):

    BM554903 AL602562 AW273091 BI964829 CB069114 AW613371 BM974301 BE326691 
    BQ776639 AA952981 M95541 AI859270 AA442913 AI570253 NM_001682 AW769967 
    BM833243 BU754357 AW576457 AW439527 AL134557 AF070606 CA446957 CK725072 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

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    ATP2B1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Cerebral Cortex
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Kidney (Urinary System)
             Metanephros
    ATP2B1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP2B1 Protein Expression

    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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP2B1 gene from Selected species (see all 20)    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 84.8(n)
    94.68(a)
      374244  NM_001168002.2  NP_001161474.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP2B16
    ATPase, Ca++ transporting, plasma membrane 1
    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 73.73(n)
    85.74(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)   --
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMC16
    Vacuolar Ca2+ ATPase involved in depleting cytosol...
    35(a)
    1 → many
    VII(485921-489442) YGL006W
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons ACA111 ACA11 53.61(n)
    47.72(a)
      824900  NM_115593.6  NP_191292.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g01369001 Os12g0136900 52.66(n)
    45.4(a)
      4351449  NM_001072637.1  NP_001066105.1 


    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)
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    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

    Find genes that share paralogs with ATP2B1           About GenesLikeMe


    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), 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 ATP2B1 (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
    ----------
    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--------
    rs1475615081,2
    --89830419(+) CCCAAA/GATCAT 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

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 108731    OMIM disorders: --

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

    Find genes that share disorders with ATP2B1           About GenesLikeMe

    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)
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    PubMed articles for ATP2B1 gene, integrated from 10 sources (see all 108):
    (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. (J. Biol. Chem. 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. (Genomics 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. (Nat. Genet. 2011)
    4. Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians. (PubMed id 21572416)1, 4 Kato N....He J. (Nat. Genet. 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. (J. Hum. Genet. 2010)
    6. Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts. (PubMed id 19960030)1, 4 Hong K.W....Oh B. (J Hum Hypertens 2010)
    7. Blood pressure and hypertension are associated with 7 loci in the Japanese population. (PubMed id 20479155)1, 4 Takeuchi F....Kato N. (Circulation 2010)
    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. 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. (Nat. Genet. 2009)
    10. Genome-wide association study of blood pressure and hypertension. (PubMed id 19430479)1, 4 Levy D....van Duijn C.M. (Nat. Genet. 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: 490 HGNC: 814 AceView: ATP2B1 Ensembl:ENSG00000070961 euGenes: HUgn490
    ECgene: ATP2B1 Kegg: 490 H-InvDB: ATP2B1

    (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)
    About This Section

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    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.)
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    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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