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PPP3R1 Gene

protein-coding   GIFtS: 67
GCID: GC02M068405

Protein Phosphatase 3, Regulatory Subunit B, Alpha

(Previous names: protein phosphatase 3 (formerly 2B), regulatory subunit...)
  See PPP3R1-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
Protein Phosphatase 3, Regulatory Subunit B, Alpha1 2     Calcineurin B1
Protein Phosphatase 3 (Formerly 2B), Regulatory Subunit B (19kD), Alpha
Isoform (Calcineurin B, Type I)1 2
     Type I (19kDa)1
Protein Phosphatase 3 (Formerly 2B), Regulatory Subunit B, 19kDa, Alpha
Isoform (Calcineurin B, Type I)1 2
     CNB12
Protein Phosphatase 3 (Formerly 2B), Regulatory Subunit B, Alpha Isoform1 2     Calcineurin B, Type I (19kDa)2
Protein Phosphatase 2B Regulatory Subunit B Alpha1 2     Calcineurin Subunit B Type 12
Protein Phosphatase 2B Regulatory Subunit 12 3     CNA23
CNB2 3     Protein Phosphatase 3 Regulatory Subunit B Alpha Isoform 13
CALNB12 5     

External Ids:    HGNC: 93171   Entrez Gene: 55342   Ensembl: ENSG000002218237   OMIM: 6013025   UniProtKB: P630983   

Export aliases for PPP3R1 gene to outside databases

Previous GC identifers: GC02M068539 GC02M068363 GC02M068324 GC02M068380 GC02M068261 GC02M068317 GC02M068259 GC02M068358 GC02M068143


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for PPP3R1 Gene:
PPP3R1 (protein phosphatase 3, regulatory subunit B, alpha) is a protein-coding gene. Diseases associated with PPP3R1 include calcaneonavicular coalition. GO annotations related to this gene include protein domain specific binding and calcium ion binding. An important paralog of this gene is CIB1.

UniProtKB/Swiss-Prot: CANB1_HUMAN, P63098
Function: Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase.
Confers calcium sensitivity

Gene Wiki entry for PPP3R1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the PPP3R1 gene promoter:
         MEF-2A   GR   AP-1   MEF-2   FOXO4   aMEF-2   GR-alpha   c-Ets-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPPP3R1 promoter sequence
   Search Chromatin IP Primers for PPP3R1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPP3R1


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

Entrez Gene cytogenetic band: 2p15   Ensembl cytogenetic band:  2p14   HGNC cytogenetic band: 2p14

PPP3R1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPP3R1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M068405:  view genomic region     (about GC identifiers)

Start:
68,405,989 bp from pter      End:
68,483,369 bp from pter
Size:
77,381 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: CANB1_HUMAN, P63098 (See protein sequence)
Recommended Name: Calcineurin subunit B type 1  
Size: 170 amino acids; 19300 Da
Subunit: Interacts with CIB1 (via C-terminus region); the interaction increases upon cardiomyocytes hypertrophy
(By similarity). Composed of a catalytic subunit (A) and a regulatory subunit (B)
Miscellaneous: This protein has four functional calcium-binding sites
6 PDB 3D structures from and Proteopedia for PPP3R1:
1AUI (3D)        1M63 (3D)        1MF8 (3D)        2P6B (3D)        3LL8 (3D)        4F0Z (3D)    
Secondary accessions: B2RC10 B5MDU4 P06705 P15117 Q08044 Q53SL0

Explore the universe of human proteins at neXtProt for PPP3R1: NX_P63098

Explore proteomics data for PPP3R1 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys103, Lys125
  • Modification sites at PhosphoSitePlus

  • See PPP3R1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000936.1  
    ENSEMBL proteins: 
     ENSP00000234310   ENSP00000387216   ENSP00000387148  
    Reactome Protein details: P63098

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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:
    PPP3R: Serine/threonine phosphatases / Protein phosphatase 3, regulatory subunits
    EFHAND: EF-hand domain containing

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry P63098

    ProtoNet protein and cluster: P63098

    2 Blocks protein domains:
    IPB001751 Calcium-binding protein
    IPB008080 Parvalbumin signature


    UniProtKB/Swiss-Prot: CANB1_HUMAN, P63098
    Similarity: Belongs to the calcineurin regulatory subunit family
    Similarity: Contains 4 EF-hand domains


    Find genes that share domains with PPP3R1           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: CANB1_HUMAN, P63098
    Function: Regulatory subunit of calcineurin, a calcium-dependent, calmodulin stimulated protein phosphatase.
    Confers calcium sensitivity

         Genatlas biochemistry entry for PPP3R1:
    calcineurin B,calmodulin dependent protein serine/threonine phosphatase 3,regulatory subunit

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004723calcium-dependent protein serine/threonine phosphatase activity NAS2558868
    GO:0005509calcium ion binding NAS2558868
    GO:0005515protein binding IPI16648474
    GO:0005516calmodulin binding NAS2558868
    GO:0019904protein domain specific binding IPI--
         
    Find genes that share ontologies with PPP3R1           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for PPP3R1:
     Decreased focal adhesion (FA)   Metaphase cells  Synthetic lethal with c-Myc af 

         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Ppp3r1):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging  nervous system 
     renal/urinary system 

    Find genes that share phenotypes with PPP3R1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Ppp3r1tm2.1Grc for PPP3R1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PPP3R1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PPP3R1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PPP3R1

    miRNA
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    miRTarBase miRNAs that target PPP3R1:
    hsa-mir-34a-5p (MIRT025426), hsa-mir-30a-5p (MIRT005180), hsa-mir-532-3p (MIRT037914), hsa-mir-183-5p (MIRT025005), hsa-mir-24-3p (MIRT030457), hsa-mir-26b-5p (MIRT029303)

    Block miRNA regulation of human, mouse, rat PPP3R1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PPP3R1 (see all 143):
    hsa-miR-411* hsa-miR-640 hsa-miR-106a hsa-miR-342-3p hsa-miR-502-3p hsa-miR-3916 hsa-miR-298 hsa-miR-520b
    SwitchGear 3'UTR luciferase reporter plasmidPPP3R1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PPP3R1

    Gene Editing
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    Addgene plasmids for PPP3R1 

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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
    CANB1_HUMAN, P63098: Cytoplasm, cytosol (By similarity). Cell membrane (By similarity). Cell membrane,
    sarcolemma. Note=Translocates from the cytosol to the sarcolemma in a CIB1-dependent manner during cardiomyocytes
    hypertrophy (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    endoplasmic reticulum1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm TAS--
    GO:0005829cytosol TAS--
    GO:0005955calcineurin complex NAS2558868
    GO:0042383sarcolemma IEA--

    Find genes that share ontologies with PPP3R1           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 PPP3R1 About   (see all 49)  
    See pathways by source

    SuperPathContained pathways About
    1MAPK signaling pathway
    MAPK signaling pathway0.50
    MAPK signaling pathway0.50
    2Alzheimer's disease
    Alzheimers Disease0.44
    Alzheimer's disease0.44
    3fMLP Pathway
    fMLP Pathway0.43
    Signal transduction Activation of PKC via G Protein coupled receptor0.42
    4Wnt signaling pathway (KEGG)
    Wnt signaling pathway0.40
    Wnt Signaling Pathways0.40
    5Apoptosis (KEGG)
    14-3-3 Induced Apoptosis0.37
    Apoptosis0.37


    Find genes that share SuperPaths with PPP3R1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 R&D Systems Pathways for PPP3R1
        Wnt Signaling Pathways
    Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for PPP3R1 (see all 32)
        14-3-3 Induced Apoptosis
    Intracellular Calcium Signaling
    PI3K Signaling in B-Lymphocyte
    IL-2 Pathway
    ITK and TCR Signaling

    4 GeneGo (Thomson Reuters) Pathways for PPP3R1
        Signal transduction Activation of PKC via G-Protein coupled receptor
    Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis
    Immune response CD16 signaling in NK cells
    Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling

    5 BioSystems Pathways for PPP3R1
        MAPK signaling pathway
    TFs Regulate miRNAs related to cardiac hypertrophy
    B Cell Receptor Signaling Pathway
    Energy Metabolism
    Alzheimers Disease


    4 Reactome Pathways for PPP3R1
        DARPP-32 events
    Activation of BAD and translocation to mitochondria
    Ca2+ pathway
    FCERI mediated Ca+2 mobilization

    1 PharmGKB Pathway for PPP3R1
        Tacrolimus/Cyclosporine Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for PPP3R1) (see all 19):
        MAPK signaling pathway
    Calcium signaling pathway
    Oocyte meiosis
    Apoptosis
    Wnt signaling pathway

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PPP3R1: 
              VEGF Signaling in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PPP3R1

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

    Selected Interacting proteins for PPP3R1 (P630981, 2, 3 ENSP000002343104) via UniProtKB, MINT, STRING, and/or I2D (see all 169)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAP3K5Q996831, 2, 3, ENSP000003519084EBI-915984,EBI-476263 MINT-8223296 MINT-8223355 I2D: score=3 STRING: ENSP00000351908
    PPP3CAQ082091, 2, 3, ENSP000003783234EBI-915984,EBI-352922 MINT-7296006 I2D: score=9 STRING: ENSP00000378323
    CALM2P621582, 3MINT-58232 I2D: score=5 
    CALM3P621582, 3MINT-58232 I2D: score=5 
    BCL2P104152, 3, ENSP000003296234MINT-58237 MINT-58234 I2D: score=1 STRING: ENSP00000329623
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0016311dephosphorylation NAS2558868
    GO:0038095Fc-epsilon receptor signaling pathway TAS--
    GO:0045087innate immune response TAS--
    GO:0097193intrinsic apoptotic signaling pathway TAS--

    Find genes that share ontologies with PPP3R1           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 Tocris compounds for PPP3R1 (CANB1)

    1 HMDB Compound for PPP3R1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for PPP3R1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    MYRISTIC ACID-- --target--10592235

    3 Novoseek inferred chemical compound relationships for PPP3R1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tacrolimus 50.3 4 7525078 (2), 8880916 (1)
    cyclosporin a 35.5 3 7525078 (2), 20421389 (1)
    calcium 8.67 6 19536897 (3), 10822252 (1)



    Find genes that share compounds with PPP3R1           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 PPP3R1 gene: 
    NM_000945.3  

    Unigene Cluster for PPP3R1:

    Protein phosphatase 3, regulatory subunit B, alpha
    Hs.280604  [show with all ESTs]
    Unigene Representative Sequence: BC027913
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000234310(uc002sei.1) ENST00000409752 ENST00000409377
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    hsa-miR-411* hsa-miR-640 hsa-miR-106a hsa-miR-342-3p hsa-miR-502-3p hsa-miR-3916 hsa-miR-298 hsa-miR-520b
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      QuantiTect SYBR Green Assays in human, mouse, rat PPP3R1
      QuantiFast Probe-based Assays in human, mouse, rat PPP3R1

    Additional mRNA sequence: 

    AK307136.1 AK314893.1 BC027913.1 CR456938.1 

    6 DOTS entries:

    DT.86821373  DT.92459728  DT.100725426  DT.100813379  DT.100813378  DT.121034831 

    Selected AceView cDNA sequences (see all 430):

    W01341 BU675203 AI521879 BM763382 BU177986 BU628390 BX349081 AA279031 
    BM129531 BM714895 BU581314 CK820228 AI619993 AA019009 NM_173177 AI017653 
    AL834142 AK058090 BP350152 AA703412 AI989469 BM142310 BE857571 AI335801 

    GeneLoc Exon Structure


    (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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    PPP3R1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTGTGGGATC
    PPP3R1 Expression
    About this image

    PPP3R1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PPP3R1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.280604
        Pathway & Disease-focused RT2 Profiler PCR Arrays including PPP3R1: 
              VEGF Signaling in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPP3R1

    (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 PPP3R1 gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ppp3r11 , 5 protein phosphatase 3, regulatory subunit B, alpha more1, 5 94.51(n)1
    100(a)1
      11 (9.71 cM)5
    190581  NM_024459.21  NP_077779.21 
     171592635 
    chicken
    (Gallus gallus)
    Aves PPP3R11 protein phosphatase 3, regulatory subunit B, alpha 91.18(n)
    100(a)
      378804  NM_204376.2  NP_989707.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    23(a)
    1 → many
    1(126546387-126637462)
    African clawed frog
    (Xenopus laevis)
    Amphibia AY336971.12   -- 90.97(n)    AY336971.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nrarpa2 notch-regulated ankyrin repeat protein a 81.44(n)    CF999354.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CanB21 , 3 protein amino acid dephosphorylation
    calmodulin more3
    Calcineurin B21
    87(a)
    (best of 2)3
    72.16(n)1
    87.65(a)1
      2 43E163
    464561  NM_080135.31  NP_524874.21 
    worm
    (Caenorhabditis elegans)
    Secernentea cnb-11 cnb-1 68.04(n)
    81.76(a)
      179572  NM_001269388.1  NP_001256317.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes CNB11 CNB1 58.76(n)
    58.97(a)
      853644   NP_012731.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G184301 AT3G18430 46.1(n)
    35.06(a)
      821372  NM_001202995.1  NP_001189924.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g04423001 Os08g0442300 47.15(n)
    34.21(a)
      4345696  NM_001068451.2  NP_001061916.2 


    ENSEMBL Gene Tree for PPP3R1 (if available)
    TreeFam Gene Tree for PPP3R1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PPP3R1 gene
    CIB12  CIB32  PPP3R22  CIB42  WDR922  ENSG000002733982  CHP22  CIB22  
    CHP12  
    Selected SIMAP similar genes for PPP3R1 using alignment to 3 protein entries:     CANB1_HUMAN (see all proteins) (see all similar genes):
    HZGJ    PPP3R2    GUCA1A_C250T    GUCA1A_T320C    CIB1    CETN2
    GUCA1A    CIB2    CALM3    CALM2    CETN1    NCS1
    CIB3    CALM1    TNNC2    CALML3    CHP1    VSNL1

    Find genes that share paralogs with PPP3R1           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for PPP3R1
    PGOHUM00000250429


    (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 PPP3R1 (see all 1486)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs746096981,2
    C,F--68405539(+) AATACA/C/GTAAGT 1 -- int11WA 118
    rs286940541,2
    C,F,H--68405545(+) TAAGTG/AAACTG 1 -- int122Minor allele frequency- A:0.49NS EA NA WA CSA 2345
    rs1889949621,2
    --68405569(+) TAAATA/GCCATT 1 -- int10--------
    rs1819919181,2
    --68405576(+) CATTGC/TAGAAG 1 -- int10--------
    rs1863322401,2
    --68405614(+) CAGGCA/GTATCT 1 -- int10--------
    rs2010289611,2
    --68405615(+) AGGCG-/TATCTG 1 -- int10--------
    rs1461215131,2
    C--68405654(+) TCCTTC/TTGAGC 1 -- int10--------
    rs1883313931,2
    --68405898(+) CACTTC/TACCAG 1 -- int10--------
    rs1401494091,2
    C--68406022(+) CATACA/GGTATG 1 -- ut310--------
    rs1422282951,2
    C--68406024(+) TACAGC/TATGAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for PPP3R1 (68405989 - 68483369 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PPP3R1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv874249CNV Loss21882294
    nsv834251CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PPP3R1
    DNA2.0 Custom Variant and Variant Library Synthesis for PPP3R1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 601302    OMIM disorders: --

    1 disease for PPP3R1:    
    About MalaCards
    calcaneonavicular coalition

    1 disease from the University of Copenhagen DISEASES database for PPP3R1:
    Calcaneonavicular coalition

    Find genes that share disorders with PPP3R1           About GenesLikeMe

    Genetic Association Database (GAD): PPP3R1
    Human Genome Epidemiology (HuGE) Navigator: PPP3R1 (15 documents)

    Export disorders for PPP3R1 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 PPP3R1 gene, integrated from 10 sources (see all 71):
    (articles sorted by number of sources associating them with PPP3R1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation and sequence of a cDNA clone for human calcineurin B, the Ca2+-binding subunit of the Ca2+/calmodulin-stimulated protein phosphatase. (PubMed id 2558868)1, 2, 3 Guerini D.... Klee C.B. (DNA 1989)
    2. Identification of a novel 5-base pair deletion in calcineurin B (PPP3R1) promoter region and its association with left ventricular hypertrophy. (PubMed id 16209992)1, 4, 9 Tang W....Ferrell R.E. (Am. Heart J. 2005)
    3. SNPs associated with cerebrospinal fluid phospho-tau levels influence rate of decline in Alzheimer's disease. (PubMed id 20862329)1, 4 Cruchaga C....Goate A.M. (PLoS Genet. 2010)
    4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    5. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PubMed id 19156168)1, 4 Need A.C....Goldstein D.B. (Eur. J. Hum. Genet. 2009)
    6. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PubMed id 19453261)1, 4 Yerges L.M....Zmuda J.M. (J. Bone Miner. Res. 2009)
    7. The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes. (PubMed id 19653005)1, 4 Ahmetov I.I....Rogozkin V.A. (Hum. Genet. 2009)
    8. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    9. 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)
    10. Crystal structure of human calcineurin complexed with cyclosporin A and human cyclophilin. (PubMed id 12357034)1, 2 Jin L. and Harrison S.C. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 5534 HGNC: 9317 AceView: PPP3R1andC1DandLOC116143 Ensembl:ENSG00000221823 euGenes: HUgn5534
    ECgene: PPP3R1 Kegg: 5534 H-InvDB: PPP3R1

    (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 PPP3R1 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 PPP3R1 gene:
    Search GeneIP for patents involving PPP3R1

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



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