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

ATP2A3 Gene

protein-coding   GIFtS: 69
GCID: GC17M003822

ATPase, Ca++ Transporting, Ubiquitous

Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
ATPase, Ca++ Transporting, Ubiquitous1 2     Adenosine Triphosphatase, Calcium2
Calcium Pump 31 2 3     ATPase, Ca(2+)-Transporting, Ubiquitous2
SERCA32 3 5     Calcium-Translocating P-Type ATPase2
Sarcoplasmic/Endoplasmic Reticulum Calcium ATPase 31 2     Sarco/Endoplasmic Reticulum Ca2+ -ATPase2
SR Ca(2+)-ATPase 32 3     EC 3.6.38
EC 3.6.3.83 8     

External Ids:    HGNC: 8131   Entrez Gene: 4892   Ensembl: ENSG000000743707   OMIM: 6019295   UniProtKB: Q930843   

Export aliases for ATP2A3 gene to outside databases

Previous GC identifers: GC17M004140 GC17M003777 GC17M004033 GC17M003761


(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 ATP2A3 Gene:
This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or
endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation
of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in calcium sequestration
associated with muscular excitation and contraction. Alternative splicing results in multiple transcript variants
encoding different isoforms. (provided by RefSeq, Jul 2008)

GeneCards Summary for ATP2A3 Gene: 
ATP2A3 (ATPase, Ca++ transporting, ubiquitous) is a protein-coding gene. Diseases associated with ATP2A3 include myotonic dystrophy type 1, and myotonic dystrophy, and among its related super-pathways are Parkinson's disease and Platelet calcium homeostasis. GO annotations related to this gene include calcium-transporting ATPase activity and metal ion binding. An important paralog of this gene is ATP2C1.

UniProtKB/Swiss-Prot: AT2A3_HUMAN, Q93084
Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium.
Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to
calcium sequestration involved in muscular excitation/contraction

summary for ATP2A3 Gene:
Ca2+-ATPases function to maintain a low cytoplasmic conentration of Ca2+ ions. They are high affinity, low
capacitance transporters and compliment the actions of the low affinity, high capacitance Na+/Ca2+
exchanger. Ca2+-ATPases are P-type ATPases and there are two varients; a plasma membrane-bound Ca2+-ATPase
(PMCA) and a sacroplasmic reticulum Ca2+-ATPase (SERCA). PMCA exists as a dimer within the plasma membrane
of a wide variety of cell types and, using the energy released from ATP hydrolysis, transports Ca2+ ions out
of the cell against the concentration gradient. SERCA is located in the sarcoplasmic reticulum (SR) of
muscle cells and transports Ca2+ ions from the cytoplasm into the SR lumen during muscle relaxation. PMCA
transports one Ca2+ ion per ATP molecule hydrolyzed, whilst SERCA can transport two. PMCAs are regulated by
calmodulin and the phospholipid composition of the surrounding plasma membrane. Furthermore, PMCA can be
phosphorylated by PKA, PKC, Src and FAK at specific residues to influence activity. So far, only one human
pathology has been linked to PMCA defects; deafness. However, SERCA defects have been implicated in a wide
array of pathologies including heart failure, sperm motility defects, cataract formation, carcinogenesis,
diabetes, and cardiac hypertension and hypertrophy.

Gene Wiki entry for ATP2A3 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010718.16  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATP2A3 gene promoter:
         Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATP2A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATP2A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATP2A3


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

Entrez Gene cytogenetic band: 17p13.3   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13.3

ATP2A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATP2A3 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M003822:  view genomic region     (about GC identifiers)

Start:
3,827,169 bp from pter      End:
3,867,736 bp from pter
Size:
40,568 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: AT2A3_HUMAN, Q93084 (See protein sequence)
Recommended Name: Sarcoplasmic/endoplasmic reticulum calcium ATPase 3  
Size: 1043 amino acids; 113977 Da
Subcellular location: Nucleus membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass
membrane protein. Sarcoplasmic reticulum membrane; Multi-pass membrane protein
Secondary accessions: A8MZG0 D3DTJ8 O60900 O60901 O75501 O75502 Q16115 Q6JHX1 Q8TEX5 Q8TEX6
Alternative splicing: 7 isoforms:  Q93084-1   Q93084-2   Q93084-3   Q93084-4   Q93084-5   Q93084-6   Q93084-7   

Explore the universe of human proteins at neXtProt for ATP2A3: NX_Q93084

Explore proteomics data for ATP2A3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q93084

  • 4/41 DME Specific Peptides for ATP2A3 (Q93084) (see all 41)
     VPGDIVE  DDNFASI  VQLLWVN  PLPLIFQ 

    ATP2A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ATP2A3 Protein Expression
    REFSEQ proteins (7 alternative transcripts): 
    NP_005164.2  NP_777613.1  NP_777614.1  NP_777615.1  NP_777616.1  NP_777617.1  NP_777618.1  

    ENSEMBL proteins: 
     ENSP00000380234   ENSP00000380229   ENSP00000461480   ENSP00000353072   ENSP00000301387  
     ENSP00000380236   ENSP00000458865   ENSP00000380232   ENSP00000312577  
    Reactome Protein details: Q93084
    Human Recombinant Protein Products for ATP2A3: 
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    Cloud-Clone Corp. Proteins for ATP2A3 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA8809064
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--
    GO:0016529sarcoplasmic reticulum IDA8809064
    GO:0031095platelet dense tubular network membrane TAS--

    ATP2A3 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    PATP: ATPases / P-type

    IUPHAR Guide to PHARMACOLOGY protein family classification: SERCA3 
    Ca2+-ATPases

    5/9 InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR023299 ATPase_P-typ_cyto_domN
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR005782 ATPase_P-typ_Ca-transp_IIA
     IPR023214 HAD-like_dom

    Graphical View of Domain Structure for InterPro Entry Q93084

    ProtoNet protein and cluster: Q93084

    4 Blocks protein domains:
    IPB000695 H+-transporting ATPase (proton pump) signature
    IPB001757 ATPase
    IPB006068 Cation transporting ATPase
    IPB008250 E1-E2 ATPase-associated region


    UniProtKB/Swiss-Prot: AT2A3_HUMAN, Q93084
    Similarity: Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily


    ATP2A3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AT2A3_HUMAN, Q93084
    Function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium.
    Transports calcium ions from the cytosol into the sarcoplasmic/endoplasmic reticulum lumen. Contributes to
    calcium sequestration involved in muscular excitation/contraction
    Catalytic activity: ATP + H(2)O + Ca(2+)(Side 1) = ADP + phosphate + Ca(2+)(Side 2)

         Genatlas biochemistry entry for ATP2A3:
    sarcoplasmic reticulum,ATPase 3,Ca++ transporting,97 kDa,with three alternatively spliced isoforms a,b,c,expressed
    in various fetal and adult tissues,mediating the extrusion of CA2+ from internal stores in the endoplasmic
    reticulum

         Enzyme Numbers (IUBMB): EC 3.6.3.81 2 EC 3.6.32

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0005388calcium-transporting ATPase activity IEA--
    GO:0005524ATP binding IEA--
    GO:0019829cation-transporting ATPase activity ----
    GO:0046872metal ion binding IEA--
         
    ATP2A3 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Atp2a3):
     cardiovascular system  muscle 

    ATP2A3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Atp2a3tm1Ges for ATP2A3

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    SwitchGear 3'UTR luciferase reporter plasmidATP2A3 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ATP2A3 About   (see all 16)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Alzheimer's disease0.46
    Alzheimers Disease0.44
    2Platelet calcium homeostasis
    Platelet calcium homeostasis0.53
    Reduction of cytosolic Ca++ levels0.53
    3Calcium Regulation in the Cardiac Cell
    Myometrial Relaxation and Contraction Pathways0.43
    Calcium Regulation in the Cardiac Cell0.43
    4Ion channel transport
    Ion channel transport0.49
    Ion transport by P-type ATPases0.32
    5CREB Pathway
    Intracellular Calcium Signaling0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ATP2A3
        G-protein signaling Rap1B regulation pathway

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ATP2A3
        Calcium Mediated T-Cell Apoptosis
    Intracellular Calcium Signaling
    Beta-Adrenergic Signaling
    Dopamine-DARPP32 Feedback onto cAMP Pathway

    1 GeneGo (Thomson Reuters) Pathway for ATP2A3
        G-protein signaling Rap1B regulation pathway

    4 BioSystems Pathways for ATP2A3
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell
    Alzheimers Disease
    calcium transport I

    5/7        Reactome Pathways for ATP2A3 (see all 7)
        Hemostasis
    Transmembrane transport of small molecules
    Ion channel transport
    Platelet homeostasis
    Ion transport by P-type ATPases

    1 PharmGKB Pathway for ATP2A3
        Celecoxib Pathway, Pharmacodynamics

    3         Kegg Pathways  (Kegg details for ATP2A3):
        Calcium signaling pathway
    Pancreatic secretion
    Alzheimer's disease


    ATP2A3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ATP2A3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/20 Interacting proteins for ATP2A3 (Q930843 ENSP000003530724) via UniProtKB, MINT, STRING, and/or I2D (see all 20)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206505P304573, ENSP000003731144I2D: score=1 STRING: ENSP00000373114
    WRAP73Q9P2S53, ENSP000002707084I2D: score=2 STRING: ENSP00000270708
    BRF2Q9HAW03, ENSP000002206594I2D: score=1 STRING: ENSP00000220659
    HLA-AP304573I2D: score=1 
    IRS1P355683, ENSP000003048954I2D: score=2 STRING: ENSP00000304895
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006810transport TAS8809064
    GO:0006812cation transport ----
    GO:0006816calcium ion transport TAS8809064
    GO:0007596blood coagulation TAS--
    GO:0034220ion transmembrane transport TAS--

    ATP2A3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ATP2A3 for compounds           About GeneDecksing

    EMD Millipore small molecules for ATP2A3:
    Small Molecule - inhibitor
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    Compounds for ATP2A3 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    ArtemisininAntimalarial; inhibits P-type ATPase (PfATP6) of P.falciparum[63968-64-9]
    BHQInhibitor of SERCA ATPase[88-58-4]
    Ochratoxin AStimulates SERCA-ATP-dependent Ca2+ pump activity[303-47-9]
    Cyclopiazonic acidInhibitor of SERCA ATPase[18172-33-3]
    ThapsigarginPotent inhibitor of SERCA ATPase[67526-95-8]

    6 HMDB Compounds for ATP2A3    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--

    10/33 Novoseek inferred chemical compound relationships for ATP2A3 gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thapsigargin 87.9 67 12457870 (2), 9582334 (2), 18439569 (2), 7864826 (1) (see all 53)
    p-mca 81.7 8 16973504 (1), 9782161 (1), 17446480 (1), 15987935 (1) (see all 6)
    2,5-di-tert-butyl-1,4-benzohydroquinone 73.4 3 9933252 (1), 16939417 (1)
    calcium 73.2 274 9128210 (4), 18191041 (4), 16297861 (2), 10790152 (2) (see all 99)
    cyclopiazonic acid 66.6 7 7847532 (1), 15016819 (1), 9782161 (1), 7540612 (1) (see all 5)
    ryanodine 65.3 13 15972723 (2), 18051721 (1), 8609904 (1), 10790152 (1) (see all 11)
    acyl phosphate 59.3 1 8119962 (1)
    inositol 1,4,5 trisphosphate 58.8 2 9425119 (1), 8663308 (1)
    papp 53 1 8288608 (1)
    ionomycin 49.5 2 18439569 (2)

    Search CenterWatch for drugs/clinical trials and news about ATP2A3 / AT2A3

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for ATP2A3 gene (7 alternative transcripts): 
    NM_005173.3  NM_174953.2  NM_174954.2  NM_174955.2  NM_174956.2  NM_174957.2  NM_174958.2  

    Unigene Cluster for ATP2A3:

    ATPase, Ca++ transporting, ubiquitous
    Hs.513870  [show with all ESTs]
    Unigene Representative Sequence: NM_174953
    16 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397041(uc010ckn.2) ENST00000397035 ENST00000574999 ENST00000570773
    ENST00000570845 ENST00000359983 ENST00000352011 ENST00000397043 ENST00000572116
    ENST00000571245 ENST00000576957 ENST00000572176 ENST00000572694 ENST00000574202
    ENST00000397039 ENST00000309890(uc002fwx.2 uc002fwy.2 uc002fwz.2 uc002fxa.2 uc002fxb.2 uc002fxc.2 uc002fxd.2)

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    Additional mRNA sequence: 

    AF068220.1 AF068221.1 AF458228.1 AF458229.1 AK292716.1 AY460339.1 BC035729.1 S68239.1 
    Z69881.1 

    17 DOTS entries:

    DT.452409  DT.100790126  DT.100790127  DT.100790125  DT.100653873  DT.100858869  DT.40106793  DT.100790123 
    DT.97845901  DT.100756538  DT.100790130  DT.86837622  DT.87016382  DT.91711299  DT.99960923  DT.100838766 
    DT.86844384 

    24/323 AceView cDNA sequences (see all 323):

    BU950368 AW575457 AW576235 CF138425 CA771729 AW081565 AW468522 AI263429 
    CA943738 NM_174953 AI587140 AW576289 CA868425 AW502894 NM_005173 AW079433 
    NM_174958 BU521839 BQ072964 CA941911 BU558284 BX333347 CA774457 NM_174955 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ATP2A3 (see all 10)    About this scheme

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

    ExUns: 18c · 18d ^ 19 ^ 20a · 20b · 20c ^ 21a · 21b · 21c · 21d ^ 22
    SP1:        -           -     -     -                                 
    SP2:        -           -     -     -                                 
    SP3:        -           -                       -     -     -         
    SP4:                                                                  
    SP5:                    -     -     -                                 


    ECgene alternative splicing isoforms for ATP2A3

    (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

    ATP2A3 expression in normal human tissues (normalized intensities)      ATP2A3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTGTAGCC
    ATP2A3 Expression
    About this image


    ATP2A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/7 selected tissues (see all 7) fully expand
     
     Thymus (Hematopoietic System)    fully expand to see all 2 entries
             Double Negative 2 Thymocytes Thymus
             Thymus   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Lymph (Hematopoietic System)    fully expand to see all 2 entries
             LYMPH NODE   
     
     Lung (Respiratory System)
             Trachea   
     
     Colon (Gastrointestinal Tract)
             colonic mucosal (ibs)   

    See ATP2A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATP2A3

    SOURCE GeneReport for Unigene cluster: Hs.513870

    UniProtKB/Swiss-Prot: AT2A3_HUMAN, Q93084
    Tissue specificity: Found in most tissues. Most abundant in thymus, trachea, salivary gland, spleen, bone marrow,
    lymph node, peripheral leukocytes, pancreas and colon. Also detected in fetal tissues. Expressed in cell lineages
    of hematopoietic, epithelial, or embryonic origin and also expressed in several cancer cell lines

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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 ATP2A3 gene from 7/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2a31 , 5 ATPase, Ca++ transporting, ubiquitous1, 5 88.05(n)1
    93.74(a)1
      11 (45.00 cM)5
    533131  NM_016745.31  NP_058025.21 
     729611695 
    chicken
    (Gallus gallus)
    Aves ATP2A31 ATPase, Ca++ transporting, ubiquitous 77.47(n)
    80.02(a)
      395707  NM_204891.1  NP_990222.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp2a31 ATPase, Ca++ transporting, ubiquitous 71.99(n)
    78.26(a)
      568671  XM_692016.5  XP_697108.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ca-P60A3 calcium ion transport
    calcium-transporting ATPase
    67(a)   60A11   --
    worm
    (Caenorhabditis elegans)
    Secernentea sca-16
    catp-46
    (see all 5)
    Protein CATP-4
    (see all 5)
    65(a)
    24(a)
    (see all 5)
    1 ↔ many
    possible ortholog
    (see all 5)
    III(10811906-10816845)
    II(14593524-14597640)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMR16
    High affinity Ca2+/Mn2+ P-type ATPase required for...
    30(a)
    1 → many
    VII(187616-190468)
    rice
    (Oryza sativa)
    Liliopsida Os.175262 Oryza sativa SS304 mRNA for Ca+2-ATPase, partial sequence 73.73(n)    AK070260.1 


    ENSEMBL Gene Tree for ATP2A3 (if available)
    TreeFam Gene Tree for ATP2A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ATP2A3 gene
    ATP2C12  ATP2A22  ATP2C22  ATP2A12  
    6 SIMAP similar genes for ATP2A3 using alignment to 2 protein entries:     AT2A3_HUMAN (see all proteins):
    ATP2A1    DKFZp779O2152    DKFZp779G2251    ATP2A2    ATP2C1    ATP2C2

    ATP2A3 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) 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

    10/1243 SNPs in ATP2A3 are shown (see all 1243)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364984
    A breast cancer sample4--see VAR_0364982 R H mis40--------
    rs58189271,2
    C,F--3747528(+) GCTGA-/T/TT  
            
    ttttt
    7 -- int1 trp32NA 4
    rs1451110151,2
    --3813388(+) AACCCC/TATCTC 7 -- ds50010--------
    rs1468355351,2
    --3813514(+) CACTCC/TAGCCT 7 -- ds50010--------
    rs1407266391,2
    C--3813531(+) CAGAGC/TGAGAC 7 -- ds50010--------
    rs1858658151,2
    --3813570(+) AAATAA/TAATAA 7 -- ds50010--------
    rs1920614121,2
    --3813598(+) GAACTC/TGTGCA 7 -- ds50010--------
    rs1823252791,2
    C--3813657(+) GGCTCC/TGCGGG 7 -- ds50010--------
    rs1870490431,2
    C--3813709(+) CTTGGA/GGGCCA 7 -- ds50010--------
    rs169535821,2
    C,F,H--3813746(+) CCCCAG/CACCTT 7 -- ds50019Minor allele frequency- C:0.05NA NS EA CSA WA 682

    HapMap Linkage Disequilibrium report for ATP2A3 (3827169 - 3867736 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/20 variations for ATP2A3 (see all 20):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2715541CNV Deletion23290073
    esv2715543CNV Deletion23290073
    esv2715544CNV Deletion23290073
    esv4315CNV Deletion18987735
    esv2350557CNV Deletion18987734
    esv1001211CNV Deletion20482838
    esv2676483CNV Deletion23128226
    esv1309502CNV Deletion17803354
    esv2715542CNV Deletion23290073
    nsv517834CNV Loss19592680


    Human Gene Mutation Database (HGMD): ATP2A3
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601929    OMIM disorders: --

    20/29 diseases for ATP2A3 (see all 29):    About MalaCards
    myotonic dystrophy type 1    myotonic dystrophy    hypertension    ischemic heart disease
    cataract    scoliosis    eclampsia    pre-eclampsia
    asthma    malaria    cystic fibrosis    osteosarcoma
    diabetes mellitus    pneumonia    neuroblastoma    cerebritis
    endotheliitis    gastric cancer    adenocarcinoma    tuberculosis


    ATP2A3 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for ATP2A3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    darier disease 65.6 5 16467572 (1), 12925205 (1), 17642644 (1), 15336971 (1)
    preeclampsia 6.07 6 9500507 (3), 7977547 (3)
    tumors 1.02 3 19100511 (1), 15972967 (1)
    asthma 0 2 10639760 (1), 19541629 (1)
    adenocarcinoma 0 2 15972967 (2)
    cancer 0 9 19100511 (5), 17127848 (1)

    Genetic Association Database (GAD): ATP2A3
    Human Genome Epidemiology (HuGE) Navigator: ATP2A3 (2 documents)

    Export disorders for ATP2A3 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 ATP2A3 gene, integrated from 9 sources (see all 203):
    (articles sorted by number of sources associating them with ATP2A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning, expression and chromosomal localization of the human sarco/endoplasmic reticulum Ca(2+)-ATPase 3 gene. (PubMed id 8809064)1, 2, 3, 9 Dode L.... Casteels R. (1996)
    2. ATP2A3 gene is involved in cancer susceptibility. (PubMed id 19100511)1, 4, 9 Korosec B....Ravnik-Glavac M. (2009)
    3. A sarco/endoplasmic reticulum Ca(2+)-ATPase 3-type Ca2+ pump is expressed in platelets, in lymphoid cells, and in mast cells. (PubMed id 8288608)1, 2, 9 Wuytack F.... Casteels R. (1994)
    4. Structure of the human sarco/endoplasmic reticulum Ca2+-ATPase 3 gene. Promoter analysis and alternative splicing of the SERCA3 pre- mRNA. (PubMed id 9593748)1, 2, 9 Dode L....Wuytack F. (1998)
    5. Functional characterization of alternatively spliced human SERCA3 transcripts. (PubMed id 9843705)1, 2, 9 Poch E.... Lytton J. (1998)
    6. Identification, expression, function, and localization of a novel (sixth) isoform of the human sarco/endoplasmic reticulum Ca2+ATPase 3 gene. (PubMed id 15028735)1, 2 Bobe R.... Enouf J. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)
    9. Three novel sarco/endoplasmic reticulum Ca2+-ATPase (SERCA) 3 isoforms. Expression, regulation, and function of the membranes of the SERCA3 family. (PubMed id 11956212)1, 2 Martin V....Enouf J. (2002)
    10. Determination of apparent calcium affinity for endogenously expressed human sarco(endo)plasmic reticulum calcium-ATPase isoform SERCA3. (PubMed id 19225163)1, 9 Chandrasekera P.C....Lytton J. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 489 HGNC: 813 AceView: ATP2A3 Ensembl:ENSG00000074370 euGenes: HUgn489
    ECgene: ATP2A3 Kegg: 489 H-InvDB: ATP2A3

    (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 ATP2A3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ATP2A3 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATP2A3 gene:
    Search GeneIP for patents involving ATP2A3

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



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    About This Section

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

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