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ATP2B4 Gene

protein-coding   GIFtS: 68
GCID: GC01P203595

ATPase, Ca++ Transporting, Plasma Membrane 4

(Previous name: matrix-remodelling associated 1)
(Previous symbols: ATP2B2, MXRA1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
ATPase, Ca++ Transporting, Plasma Membrane 41 2     Matrix-Remodelling Associated 11
ATP2B21 2 3 5     PMCA4b2
MXRA11 2 3     PMCA4x2
PMCA42 3 5     Sarcolemmal Calcium Pump2
Plasma Membrane Calcium-Transporting ATPase 41 2     Plasma Membrane Calcium ATPase Isoform 43
Matrix-Remodeling-Associated Protein 12 3     Plasma Membrane Calcium Pump Isoform 43
EC 3.6.3.83 8     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ATP2B4 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 4. Alternatively
spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP2B4 Gene:
ATP2B4 (ATPase, Ca++ transporting, plasma membrane 4) is a protein-coding gene. Diseases associated with ATP2B4 include long qt syndrome, and essential hypertension. GO annotations related to this gene include calmodulin binding and sodium channel regulator activity. An important paralog of this gene is ATP2B1.

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 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:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   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 Chromatin IP Primers for ATP2B4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AT2B4_HUMAN, P23634 (See protein sequence)
Recommended Name: Plasma membrane calcium-transporting ATPase 4  
Size: 1241 amino acids; 137920 Da
Subunit: Interacts with PDZD11
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

Explore proteomics data for ATP2B4 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys59, Lys189, Lys252, Lys709, Lys794, Lys1144, Lys1156
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP2B4 (P23634) (see all 41)
     QFQLTVN  SSLTGES  IRNEKGE  VGNKTEC 


    See ATP2B4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

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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: PMCA4
    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 P23634

    ProtoNet protein and cluster: P23634

    2 Blocks protein domains:
    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


    ATP2B4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005388calcium-transporting ATPase activity IEA--
    GO:0005515protein binding IPI11274188
    GO:0005516calmodulin binding IEA--
    GO:0005524ATP binding IEA--
         
    ATP2B4 for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         MGI mouse knock-outs for ATP2B4: Atp2b4tm1Ksch Atp2b4tm1Ges

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    miRNA
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    miRTarBase miRNAs that target ATP2B4:
    hsa-mir-21-5p (MIRT030786), hsa-mir-1 (MIRT023603), hsa-mir-335-5p (MIRT017163), hsa-mir-423-5p (MIRT038088)

    Block miRNA regulation of human, mouse, rat ATP2B4 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP2B4 (see all 98):
    hsa-miR-520f hsa-miR-607 hsa-miR-3074-3p hsa-miR-502-3p hsa-miR-877* hsa-miR-376c hsa-miR-761 hsa-miR-92b
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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
    AT2B4_HUMAN, P23634: Cell membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol1
    endoplasmic reticulum1

    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 TAS2137451
    GO:0016020membrane ----
    GO:0016021integral component of membrane ----
    GO:0043234protein complex ISS--

    ATP2B4 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP2B4 About   (see all 10)  
    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
    3Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47
    4Hemostasis
    Hemostasis0.43
    5Salivary secretion
    Salivary secretion0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for ATP2B4
        Intracellular Calcium Signaling

    1 BioSystems Pathway for ATP2B4
        B Cell Receptor Signaling Pathway

    2 Reactome Pathways for ATP2B4
        Ion transport by P-type ATPases
    Reduction of cytosolic Ca++ levels


    4 Kegg Pathways  (Kegg details for ATP2B4):
        Calcium signaling pathway
    Adrenergic signaling in cardiomyocytes
    Salivary secretion
    Pancreatic secretion


    ATP2B4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP2B4
    Interactions:

        GeneGlobe Interaction Network for ATP2B4

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

    Selected Interacting proteins for ATP2B4 (P236341, 2, 3 ENSP000003503104) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALCAP012581, 2, 3, ENSP000003317464EBI-1174388,EBI-1018474 MINT-5204003 MINT-5203983 I2D: score=1 STRING: ENSP00000331746
    YWHAEP622582, 3, ENSP000002643354MINT-8007179 I2D: score=1 STRING: ENSP00000264335
    DLG1Q129592, 3, ENSP000003457314MINT-73083 I2D: score=4 STRING: ENSP00000345731
    DLG2Q157002, 3, ENSP000003652724MINT-73082 I2D: score=4 STRING: ENSP00000365272
    CASKO149363, ENSP000003674084I2D: score=4 STRING: ENSP00000367408
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS2137451
    GO:0006812cation transport ----
    GO:0007596blood coagulation TAS--
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    ATP2B4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ATP2B4 (AT2B4)

    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 inferred 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)



    ATP2B4 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    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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    hsa-miR-520f hsa-miR-607 hsa-miR-3074-3p hsa-miR-502-3p hsa-miR-877* hsa-miR-376c hsa-miR-761 hsa-miR-92b
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    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 349):

    AI924233 BX503964 AI874122 AA350133 AA319368 CA436086 BF445962 CA414462 
    CA447037 AW517686 AI383984 AA985086 AI985678 AI359848 CB162809 AW264610 
    AW820749 NM_001001396 CR614539 BX374909 CB044091 AI565911 AW305209 AW628769 

    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™, 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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    ATP2B4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCACTTGTA
    ATP2B4 Expression
    About this image


    ATP2B4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Eye (Sensory Organs)
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    ATP2B4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP2B4 Protein Expression

    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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    (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 ATP2B4 gene from Selected species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2b41 , 5 ATPase, Ca++ transporting, plasma membrane 41, 5 84.14(n)1
    84.78(a)1
      1 (57.95 cM)5
    3812901  NM_213616.41  NP_998781.11 
     1337026785 
    chicken
    (Gallus gallus)
    Aves ATP2B41 ATPase, Ca++ transporting, plasma membrane 4 76.77(n)
    82.51(a)
      419934  XM_004948446.1  XP_004948503.1 
    lizard
    (Anolis carolinensis)
    Reptilia ATP2B46
    ATPase, Ca++ transporting, plasma membrane 4
    80(a)
    1 ↔ 1
    4(118124025-118228762)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atp2b41 ATPase, Ca++ transporting, plasma membrane 4 71.58(n)
    81.07(a)
      100488346  XM_004910677.1  XP_004910734.1 
    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)   --
    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 ACA81 ACA8 51.83(n)
    46.24(a)
      835815  NM_125093.5  NP_200521.3 
    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)
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    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, 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 ATP2B4 (see all 2737)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs753283941,2
    C--174804855(+) ATACTC/TTTTTT 2 -- int10--------
    rs1114196161,2
    C--174815283(+) AAGAA-/AAG   
       AAG
    /G
    AAAAA
    4 -- int1 cds11CSA 2
    rs350680941,2
    C--174817268(+) GGCCTC/-AGCTA 2 -- int12Minor allele frequency- -:0.00CSA 4
    rs15412551,2
    C,F,A,H--174817678(+) CATACA/G/TGAAGA 4 -- ut51 ese3 trp38WA NA CSA EA 369
    rs2010544601,2
    C--174820207(+) ACTCTA/C/TTAGGA 2 -- int10--------
    rs49513751,2
    C,F,A,H--174821326(+) ATATGG/TGTCCT 2 -- int115Minor allele frequency- T:0.16NS EA NA WA CSA 789
    rs65940091,2
    C,F,A--174821333(+) TCCTGG/ATGTTT 2 -- int13Minor allele frequency- A:0.04NA WA 122
    rs2001267411,2
    C--174821350(+) CTTTTC/TTTTCT 2 -- int10--------
    rs760584391,2
    C--174821354(+) TCTTTC/TTTTTT 2 -- int11Minor allele frequency- T:0.50NA 2
    rs113292731,2
    C--174821666(+) TGGCCT/-TTTTT 2 -- int1 trp32Minor allele frequency- -:0.25NA 4

    HapMap Linkage Disequilibrium report for ATP2B4 (203595689 - 203713209 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ATP2B4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2661127CNV Deletion23128226
    esv2663220CNV Deletion23128226
    nsv820549CNV Deletion20802225
    esv2721795CNV Deletion23290073
    nsv467994CNV Loss19166990
    esv26128CNV Gain19812545

    Human Gene Mutation Database (HGMD): ATP2B4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP2B4
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP2B4

    (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: 108732    OMIM disorders: --

    13 diseases for ATP2B4:    
    About MalaCards
    long qt syndrome    essential hypertension    malaria    hypertension
    schizophrenia    tuberculosis    breast cancer    tonsillitis
    pancreatitis    endotheliitis    thyroiditis    neuronitis
    cerebritis

    1 disease from the University of Copenhagen DISEASES database for ATP2B4:
    Long QT syndrome

    ATP2B4 for disorders           About GeneDecksing

    3 Novoseek inferred 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)

    Genetic Association Database (GAD): ATP2B4
    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)
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    PubMed articles for ATP2B4 gene, integrated from 10 sources (see all 111):
    (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. (J. Biol. Chem. 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. (Mol. Cell. Biochem. 1996)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (Eur. J. Hum. Genet. 2009)
    5. Characterization of PISP, a novel single-PDZ protein that binds to all plasma membrane Ca2+-ATPase b-splice variants. (PubMed id 12763866)1, 2 Goellner G.M.... Strehler E.E. (Ann. N. Y. Acad. Sci. 2003)
    6. Quantitative analysis of alternative splicing options of human plasma membrane calcium pump genes. (PubMed id 7989379)1, 2 Stauffer T.P....Strehler E.E. (J. Biol. Chem. 1994)
    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. (J. Biol. Chem. 1993)
    8. 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. (Genomics 1991)
    9. 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. (J. Biol. Chem. 1990)
    10. A C-terminal, calmodulin-like regulatory domain from the plasma membrane Ca2+-pumping ATPase. (PubMed id 2966397)1, 2 Brandt P.... Vanaman T.C. (Proc. Natl. Acad. Sci. U.S.A. 1988)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ATP2B4 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 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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