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

ATP2B4 Gene

protein-coding   GIFtS: 64
GCID: GC01P203595

ATPase, Ca++ transporting, plasma membrane 4

(Previous name: matrix-remodelling associated 1 )
(Previous symbols: ATP2B2, MXRA1)
 Explore 11 diseases affiliated with
ATP2B4 via our new
 Human Malady Compendium 
Biological research products
for ATP2B4
    

(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 41 2     PMCA4b2
ATP2B21 2 3 5     PMCA4x2
PMCA41 2 3 5     Plasma Membrane Calcium-Transporting ATPase 42
MXRA11 2 3     Sarcolemmal Calcium Pump2
Matrix-Remodeling-Associated Protein 12 3     Plasma Membrane Calcium ATPase Isoform 43
EC 3.6.3.83 8     Plasma Membrane Calcium Pump Isoform 43
Matrix-Remodelling Associated 11     EC 3.6.38

External Ids:    HGNC: 8171   Entrez Gene: 4932   Ensembl: ENSG000000586687   OMIM: 1087325   UniProtKB: P236343   

Export aliases for ATP2B4 gene to outside databases

Previous GC identifers: GC01P201313 GC01P199112 GC01P199956 GC01P200773 GC01P200327 GC01P201862 GC01P174761


(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 ATP2B4:
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 4. Alternatively spliced transcript variants encoding different isoforms have
been identified. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: AT2B4_HUMAN, P23634
Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium out of
the cell

Gene Wiki entry for ATP2B4


(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_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP2B4 gene promoter:
         STAT1   ISGF-3   USF1   AML1a   MAZR   Pax-5   STAT1beta   S8   Ik-2   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP2B4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP2B4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP2B4


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

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

ATP2B4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2B4 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P203595:  view genomic region     (about GC identifiers)

Start:
203,595,689 bp from pter      End:
203,713,209 bp from pter
Size:
117,521 bases      Orientation:
plus strand

(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: AT2B4_HUMAN, P23634 (See protein sequence)
Recommended Name: Plasma membrane calcium-transporting ATPase 4  
Size: 1241 amino acids; 137920 Da
Subcellular location: Cell membrane; Multi-pass membrane protein
2 PDB 3D structures from and Proteopedia for ATP2B4:
1CFF (3D)        2KNE (3D)    
Secondary accessions: B1APW5 B1APW6 Q13450 Q13452 Q13455 Q16817 Q7Z3S1
Alternative splicing: 8 isoforms:  P23634-1   P23634-2   P23634-3   P23634-4   P23634-5   P23634-6   P23634-7   P23634-8   

Explore the universe of human proteins at neXtProt for ATP2B4: NX_P23634

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P23634

  • 4/41 DME Specific Peptides for ATP2B4 (P23634) (see all 41)
     QFQLTVN  SSLTGES  IRNEKGE  VGNKTEC 

    ATP2B4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001001396.1  NP_001675.3  

    ENSEMBL proteins: 
     ENSP00000350310   ENSP00000340930   ENSP00000391150   ENSP00000349165   ENSP00000433577  
     ENSP00000356187   ENSP00000356188   ENSP00000375816  
    Reactome Protein details: P23634
    Human Recombinant Protein Products: 
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    Uscn Proteins for ATP2B4

    Gene Ontology (GO): 2 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 TAS2137451


    ATP2B4 for ontologies           About GeneDecksing



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

    ATP2B4 for domains           About GeneDecksing

    5/10 InterPro domains/families (see all 10):
     IPR023298 ATPase_P-typ_TM_dom
     IPR023306 ATPase_cation_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 P23634

    ProtoNet protein and cluster: P23634

    2 Blocks protein families:
    IPB001757 ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT2B4_HUMAN, P23634
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIB subfamily


    (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: AT2B4_HUMAN, P23634
    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 ATP2B4:
    ATPase,Ca++ transporting,B4 plasma membrane,mediating the extrusion of CA2+ from the cell

    Enzyme Numbers (IUBMB): EC 3.6.3.81 2 EC 3.6.32

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005388calcium-transporting ATPase activity IEA--
    GO:0005515protein binding IPI11274188
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
    GO:0030165PDZ domain binding ----


    ATP2B4 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for ATP2B4: Atp2b4tm1Ksch Atp2b4tm1Ges
         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Atp2b4):
     behavior/neurological  cardiovascular system  immune system  muscle  reproductive system 

    ATP2B4 for phenotypes           About GeneDecksing


    (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 - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Platelet calcium homeostasis
    Platelet calcium homeostasis1.00
    Reduction of cytosolic Ca++ levels0.53
    2Ion channel transport
    Ion channel transport1.00
    Ion transport by P-type ATPases0.32
    3B Cell Receptor Signaling Pathway
    B Cell Receptor Signaling Pathway1.00
    4Pancreatic secretion
    Pancreatic secretion1.00
    5Calcium signaling pathway
    Calcium signaling pathway1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for ATP2B4 
        B Cell Receptor Signaling Pathway

    5/7        Reactome Pathways for ATP2B4 (see all 7)
        Hemostasis
    Transmembrane transport of small molecules
    Ion channel transport
    Platelet homeostasis
    Ion transport by P-type ATPases


    3         Kegg Pathways  (Kegg details for ATP2B4):
        Calcium signaling pathway
    Salivary secretion
    Pancreatic secretion


    ATP2B4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP2B4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    5/30 Interacting proteins for ATP2B4 (P236341, 2, 3 ENSP000003503104) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALCAP012582, 3, ENSP000003317464MINT-5204003 MINT-5203983 I2D: score=1 STRING: ENSP00000331746
    DLG1Q129592, 3, ENSP000003457314MINT-73083 I2D: score=4 STRING: ENSP00000345731
    DLG2Q157002, 3, ENSP000003652724MINT-73082 I2D: score=4 STRING: ENSP00000365272
    YWHAEP622582, 3, ENSP000002643354MINT-8007179 I2D: score=1 STRING: ENSP00000264335
    CASKO149363, ENSP000003674084I2D: score=4 STRING: ENSP00000367408
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003407neural retina development ----
    GO:0006754ATP biosynthetic process IEA--
    GO:0006810transport TAS2137451
    GO:0006816calcium ion transport ----
    GO:0007596blood coagulation TAS--


    ATP2B4 for ontologies           About GeneDecksing



    (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

    ATP2B4 for compounds           About GeneDecksing

    EMD Millipore small molecules for ATP2B4:
    Small Molecule - inhibitor
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    6 HMDB Compounds for ATP2B4    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 ATP2B4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    p-mca 91 5 16452157 (2), 8700162 (1), 12359307 (1)
    calcium 55.5 16 19755660 (3), 16978418 (2), 8187550 (1), 7554945 (1) (see all 9)
    atp 29.3 3 7929331 (1), 12851406 (1)

    Search CenterWatch for drugs/clinical trials and news about ATP2B4 / AT2B4 

    (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,
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    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 ATP2B4 gene (2 alternative transcripts): 
    NM_001001396.2  NM_001684.4  

    Unigene Cluster for ATP2B4:

    ATPase, Ca++ transporting, plasma membrane 4
    Hs.343522  [show with all ESTs]
    Unigene Representative Sequence: BX537444
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000357681(uc001gzw.3) ENST00000341360 ENST00000458092 ENST00000466407
    ENST00000356729 ENST00000484746 ENST00000367218(uc009xaq.3 uc001gzv.3)
    ENST00000367219(uc001gzx.3) ENST00000391954(uc009xar.3)

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    Additional cDNA sequence: 

    AK026443.1 AK292458.1 AK307104.1 BC140774.1 BC150293.1 BX537444.1 BX537745.1 BX647701.1 
    CR749393.1 CR936708.1 DQ201780.1 DQ201781.1 M25874.1 M83363.1 U42026.1 U42061.1 
    U42062.1 U42378.1 

    19 DOTS entries:

    DT.100892460  DT.100785137  DT.95096661  DT.97787189  DT.95271427  DT.111850  DT.121362820  DT.456214 
    DT.121362917  DT.40248724  DT.75144554  DT.121362854  DT.432584  DT.95221941  DT.95251749  DT.95354157 
    DT.97844329  DT.121362855  DT.87014818 

    24/349 AceView cDNA sequences (see all 349):

    CA436086 AI565911 CR622884 AW239322 CB136898 CB216798 CA389647 BX503964 
    BF445962 AA865620 AA350133 BE384169 BQ446645 AW192926 BE855954 U42061 
    Z42673 AW167167 AA376080 BF724145 AA338194 AL598568 AI678822 BU183045 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ATP2B4    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                  -         
    SP3:        -     -                                                                                                                                             
    SP4:              -                                                                                                                                             
    SP5:                                                                                                                                                            


    ECgene alternative splicing isoforms for ATP2B4

    (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

    ATP2B4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCACTTGTA

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

    About this image

    ATP2B4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeVisceral White AdiposeAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ATP2B4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP2B4

    SOURCE GeneReport for Unigene cluster: Hs.343522

    UniProtKB/Swiss-Prot: AT2B4_HUMAN, P23634
    Tissue specificity: Isoform XB is the most abundant isoform and is expressed ubiquitously. Isoforms containing segment
    Z have only been detected in heart, while isoforms containing segment a have been found in heart, stomach and brain
    cortex

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    In Situ
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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 ATP2B4 gene from 7/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ATP2B41 ATPase, Ca++ transporting, plasma membrane 4 76.85(n)
    82.68(a)
      419934  XM_418055.3  XP_418055.3 
    lizard
    (Anolis carolinensis)
    Reptilia ATP2B46
    --
    80(a)
    1 ↔ 1
    4(118128604-118190039)
    zebrafish
    (Danio rerio)
    Actinopterygii 570744112   -- 78.41(n)    57074411 
    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 ACA11 autoinhibited Ca2+-ATPase 1 50.98(n)
    44.58(a)
      839670  NM_179385.1  NP_849716.1 
    rice
    (Oryza sativa)
    Liliopsida Os.248602 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 72.84(n)    AK065088.1 


    ENSEMBL Gene Tree for ATP2B4 (if available)
    TreeFam Gene Tree for ATP2B4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP2B4 gene
    ATP2B12  ATP2B22  ATP2B32  
    6 SIMAP similar genes for ATP2B4 using alignment to 7 protein entries:     AT2B4_HUMAN (see all proteins):
    DKFZp686M088    ATP2B2    ATP2B2 variant protein    ATP2B3    PMCA2    ATP2B1

    ATP2B4 for paralogs           About GeneDecksing



    (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

    10/2236 NCBI SNPs in ATP2B4 are shown (see all 2236    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1134217871,2
    --174759884(+) ACCCCA/GTCTCT 2 -- us2k11Minor allele frequency- G:0.00CSA 1
    rs121226871,2
    C,H--174760287(+) GGTTAG/AAATGA 2 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs121227221,2
    H--174760392(+) TGTGAG/AACATA 2 -- us2k14Minor allele frequency- A:0.00NS EA 420
    rs599557421,2
    --174760498(+) GCTGAT/CGGTGC 2 -- us2k11Minor allele frequency- C:0.01WA 118
    rs1123099001,2
    --174761284(+) CCACTC/TCCCAC 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs768572731,2
    C,--174761884(+) CCCTAC/TCNNNN 2 -- ut514Minor allele frequency- T:0.15CSA WA NA 241
    rs1139013241,2
    --174762050(+) TCTAGC/AATATT 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1146505731,2
    C,F,--174762395(+) GCCCAA/GAAGAG 2 -- int11Minor allele frequency- G:0.03WA 118
    rs758024981,2
    F,--174762973(+) CTCTTG/TGTAGA 2 -- int11Minor allele frequency- T:0.03WA 118
    rs1997140471,2
    C--174763045(+) AGGGTA/CCNNNN 2 -- int10--------

    HapMap Linkage Disequilibrium report for ATP2B4 (203595689 - 203713209 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ATP2B4
         1 CNV: 65686
         2 Indels: 74864 84793
    Human Gene Mutation Database (HGMD): ATP2B4

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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.)
    About This Section

    ATP2B4 for disorders           About GeneDecksing

    OMIM gene information: 108732    OMIM disorders: --

    11 diseases for ATP2B4:    About MalaCards
    essential hypertension    scoliosis    breast cancer    hypertension
    colon cancer    pneumonia    schizophrenia    tuberculosis
    pancreatitis    neuronitis    mycobacterium tuberculosis

    3 Novoseek disease relationships for ATP2B4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    necrosis 0 3 11713265 (1), 12509464 (1), 19755660 (1)
    breast cancer 0 3 16216224 (2), 12359307 (1)
    tumors 0 3 11713265 (1), 12509464 (1), 19755660 (1)

    Human Genome Epidemiology (HuGE) Navigator: ATP2B4 (2 documents)

    Export disorders for ATP2B4 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 ATP2B4 gene, integrated from 9 sources (see all 100):
    (articles sorted by number of sources associating them with ATP2B4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Analysis of the tissue-specific distribution of mRNAs encoding the plasma membrane calcium-pumping ATPases and characterization of an alternately spliced form of PMCA4 at the cDNA and genomic levels. (PubMed id 1531651)1, 2, 9 Brandt P.... Vanaman T.C. (1992)
    2. Analysis of mRNA expression and cloning of a novel plasma membrane Ca(2+)-ATPase splice variant in human heart. (PubMed id 8700162)1, 2, 9 Santiago-Garcia J.... Zarain-Herzberg A. (1996)
    3. 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)
    4. 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)
    5. Localization of two genes encoding plasma membrane Ca2(+)-transporting ATPases to human chromosomes 1q25-32 and 12q21-23. (PubMed id 1674727)1, 3 Olson S....McBride O.W. (1991)
    6. Peptide sequence analysis and molecular cloning reveal two calcium pump isoforms in the human erythrocyte membrane. (PubMed id 2137451)1, 2 Strehler E.E.... Carafoli E. (1990)
    7. A C-terminal, calmodulin-like regulatory domain from the plasma membrane Ca2+-pumping ATPase. (PubMed id 2966397)1, 2 Brandt P.... Vanaman T.C. (1988)
    8. Identification and primary structure of a calmodulin binding domain of the Ca2+ pump of human erythrocytes. (PubMed id 2963820)1, 2 James P....Carafoli E. (1988)
    9. Plasma membrane calcium ATPase 4 and the remodeling o f calcium homeostasis in human colon cancer cells. (PubMed id 19755660)1, 9 Aung C.S....Roberts-Thomson S.J. (2009)
    10. Plasma membrane calcium ATPase (PMCA4): a housekeeper for RT-PCR relative quantification of polytopic membrane proteins. (PubMed id 16978418)1, 9 Calcagno A.M....Ambudkar S.V. (2006)

    (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: 493 HGNC: 817 AceView: ATP2B4 Ensembl:ENSG00000058668 euGenes: HUgn493
    ECgene: ATP2B4 Kegg: 493 H-InvDB: ATP2B4

    (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 ATP2B4 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 ATP2B4 gene:
    Search GeneIP for patents involving ATP2B4

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



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