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ATP2A3 Gene

protein-coding   GIFtS: 69
GCID: GC17M003822

ATPase, Ca++ Transporting, Ubiquitous

  See ATP2A3-related disease
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, 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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 hypertension. GO annotations related to this gene include calcium-transporting ATPase activity. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000017.11  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATP2A3 gene promoter:
         Sp1   
         Other transcription factors

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

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AT2A3_HUMAN, Q93084 (See protein sequence)
Recommended Name: Sarcoplasmic/endoplasmic reticulum calcium ATPase 3  
Size: 1043 amino acids; 113977 Da
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: 

  • Ubiquitination2 at Lys120, Lys128, Lys158, Lys169, Lys189, Lys218, Lys234, Lys252, Lys352, Lys431,
                                 Lys436, Lys451, Lys476, Lys481, Lys492, Lys515, Lys548, Lys629, Lys651, Lys712 (see all 21)
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ATP2A3 (Q93084) (see all 41)
     VPGDIVE  DDNFASI  VQLLWVN  PLPLIFQ 


    See ATP2A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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

    ATP2A3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for ATP2A3

     
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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: SERCA3
    Ca2+-ATPases

    Selected InterPro protein domains (see all 9):
     IPR023298 ATPase_P-typ_TM_dom
     IPR008250 ATPase_P-typ_transduc_dom_A
     IPR005782 ATPase_P-typ_Ca-transp_IIA
     IPR023214 HAD-like_dom
     IPR004014 ATPase_P-typ_cation-transptr_N

    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


    Find genes that share domains with ATP2A3           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 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:    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--
         
    Find genes that share ontologies with ATP2A3           About GenesLikeMe


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

    Find genes that share phenotypes with ATP2A3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Atp2a3tm1Ges for ATP2A3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ATP2A3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ATP2A3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ATP2A3

    miRNA
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    Block miRNA regulation of human, mouse, rat ATP2A3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATP2A3 (see all 17):
    hsa-miR-320a hsa-miR-185* hsa-miR-766 hsa-miR-2276 hsa-miR-489 hsa-miR-296-5p hsa-miR-1827 hsa-miR-192*
    SwitchGear 3'UTR luciferase reporter plasmidATP2A3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATP2A3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 7): ATP2A3 (NM_174954)
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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
    AT2A3_HUMAN, Q93084: Nucleus membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass
    membrane protein. Sarcoplasmic reticulum membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    nucleus5
    plasma membrane3
    cytosol2

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

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

    Find genes that share ontologies with ATP2A3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ATP2A3 About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    2Ion transport by P-type ATPases
    Ion transport by P-type ATPases
    calcium transport I0.00
    3Platelet homeostasis
    Platelet homeostasis
    Platelet calcium homeostasis0.00
    Reduction of cytosolic Ca++ levels0.00
    4Pre-NOTCH Expression and Processing
    Pre-NOTCH Expression and Processing0.62
    Pre-NOTCH Processing in Golgi0.00
    5Myometrial Relaxation and Contraction Pathways
    Myometrial Relaxation and Contraction Pathways0.43
    Calcium Regulation in the Cardiac Cell0.43


    Find genes that share SuperPaths with ATP2A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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

    3 Reactome Pathways for ATP2A3
        Pre-NOTCH Processing in Golgi
    Ion transport by P-type ATPases
    Reduction of cytosolic Ca++ levels

    1 PharmGKB Pathway for ATP2A3
        Celecoxib Pathway, Pharmacodynamics

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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ATP2A3
    Interactions:

        GeneGlobe Interaction Network for ATP2A3

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

    Selected Interacting proteins for ATP2A3 (Q930843 ENSP000003530724) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    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): Selected biological process terms (see all 7):    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--

    Find genes that share ontologies with ATP2A3           About GenesLikeMe



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

    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--

    Selected 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)



    Find genes that share compounds with ATP2A3           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for 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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    hsa-miR-320a hsa-miR-185* hsa-miR-766 hsa-miR-2276 hsa-miR-489 hsa-miR-296-5p hsa-miR-1827 hsa-miR-192*
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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 

    Selected AceView cDNA sequences (see all 323):

    BX333347 AW780094 CA774457 BQ072964 CA868425 AW576289 AW575457 AF068220 
    AW504025 BF514133 NM_174955 BM694476 AI587140 NM_174956 BU521839 BE676288 
    CB070321 AI566160 AW502894 BM509958 BX364025 AI361813 CB070377 S68239 

    GeneLoc Exon Structure

    Selected 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™, 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)
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    ATP2A3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 13) fully expand
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; non-germinal center cells   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Cerebral Cortex
     
     Epithelial Cells (Uncategorized)
             tonsil ; squamous epithelial cells   
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
    ATP2A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATP2A3 Protein Expression

    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

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATP2A3 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atp2a31 , 5 ATPase, Ca++ transporting, ubiquitous1, 5 88.09(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 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia atp2a31 ATPase, Ca++ transporting, ubiquitous 70.03(n)
    79.13(a)
      779786  NM_001078865.1  NP_001072333.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atp2a31 ATPase, Ca++ transporting, ubiquitous 71.91(n)
    78.1(a)
      568671  XM_692016.6  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
    Protein SCA-1, isoform b (sca-1) mRNA, complete cd...
    65(a)
    1 → many
    III(10811906-10816844) WBGene00004736
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PMR16
    High affinity Ca2+/Mn2+ P-type ATPase required for...
    31(a)
    1 → many
    VII(187616-190468) YGL167C
    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)
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    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

    Find genes that share paralogs with ATP2A3           About GenesLikeMe



    (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 ATP2A3 (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) Selected 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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATP2A3
    DNA2.0 Custom Variant and Variant Library Synthesis for ATP2A3

    (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: 601929    OMIM disorders: --

    1 disease for ATP2A3:    
    About MalaCards
    hypertension


    Find genes that share disorders with ATP2A3           About GenesLikeMe

    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)
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    PubMed articles for ATP2A3 gene, integrated from 10 sources (see all 204):
    (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. (Biochem. J. 1996)
    2. ATP2A3 gene is involved in cancer susceptibility. (PubMed id 19100511)1, 4, 9 Korosec B....Ravnik-Glavac M. (Cancer Genet. Cytogenet. 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. (J. Biol. Chem. 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. (J. Biol. Chem. 1998)
    5. Functional characterization of alternatively spliced human SERCA3 transcripts. (PubMed id 9843705)1, 2, 9 Poch E.... Lytton J. (Am. J. Physiol. 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. (J. Biol. Chem. 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. (Genome Res. 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. (Nat. Biotechnol. 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. (J. Biol. Chem. 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. (Am. J. Physiol., Cell Physiol. 2009)

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

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

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for 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.)
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    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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