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PLCH2 Gene

protein-coding   GIFtS: 54
GCID: GC01P002397

Phospholipase C, Eta 2

(Previous name: phospholipase C-like 4)
(Previous symbol: PLCL4)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phospholipase C, Eta 21 2     PLC-eta22 3
PLCL41 2 3 5     EC 3.1.4.113 8
Phospholipase C-Like 41 2     1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Eta-22
Phosphoinositide Phospholipase C-Eta-22 3     1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Eta-22
Phosphoinositide Phospholipase C-Like 42 3     PLCeta22
Phospholipase C-Eta-22 3     RP3-395M20.12
Phospholipase C-Like Protein 42 3     Phospholipase C-Eta22
PLC-L42 3     KIAA04503

External Ids:    HGNC: 290371   Entrez Gene: 96512   Ensembl: ENSG000001495277   OMIM: 6128365   UniProtKB: O750383   

Export aliases for PLCH2 gene to outside databases

Previous GC identifers: GC01P002347 GC01P001686


(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 PLCH2 Gene:
PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of
enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol
(Zhou et al., 2005 (PubMed 16107206)).(supplied by OMIM, Jun 2009)

GeneCards Summary for PLCH2 Gene:
PLCH2 (phospholipase C, eta 2) is a protein-coding gene. Diseases associated with PLCH2 include mental retardation, and ulcerative colitis. GO annotations related to this gene include signal transducer activity and calcium ion binding. An important paralog of this gene is PLCD4.

UniProtKB/Swiss-Prot: PLCH2_HUMAN, O75038
Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate
(IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity
is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the
postnatal brain (By similarity)

summary for PLCH2 Gene:
Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic
molecules. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the
hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and
1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily
activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth
factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological
functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane
phospholipids.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_032977.10  NT_187515.1  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLCH2 gene promoter:
         AML1a   NRSF form 1   NRSF form 2   HEN1   RORalpha1   S8   PPAR-gamma1   HOXA5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLCH2 promoter sequence
   Search Chromatin IP Primers for PLCH2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLCH2


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

Entrez Gene cytogenetic band: 1p36.32   Ensembl cytogenetic band:  1p36.32   HGNC cytogenetic band: 1p36.32

PLCH2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLCH2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P002397:  view genomic region     (about GC identifiers)

Start:
2,357,419 bp from pter      End:
2,436,969 bp from pter
Size:
79,551 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PLCH2_HUMAN, O75038 (See protein sequence)
Recommended Name: 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2  
Size: 1416 amino acids; 154668 Da
Cofactor: Calcium (By similarity)
Sequence caution: Sequence=AAH43358.1; Type=Frameshift; Positions=172; Sequence=BAA32295.3; Type=Erroneous
initiation; Note=Translation N-terminally shortened; Sequence=BAC56932.2; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
Secondary accessions: A2VCM3 B9DI80 Q3LUA8 Q86XJ2 Q86XU1 Q86YU7 Q8TEH5 Q8WUS6
Alternative splicing: 5 isoforms:  O75038-1   O75038-2   O75038-3   O75038-4   O75038-5   (No experimental confirmation available. Ref.2 (BAC56932) sequence is in conflict in position: 209:Q->L)

Explore the universe of human proteins at neXtProt for PLCH2: NX_O75038

Explore proteomics data for PLCH2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for PLCH2 (O75038) (see all 7)
     RVDSSNY  QLSRIYP  CGYVLKP  SSHNTYL 


    See PLCH2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055453.2  
    ENSEMBL proteins: 
     ENSP00000476436   ENSP00000397289   ENSP00000389803   ENSP00000278878   ENSP00000367747  
     ENSP00000367749   ENSP00000288766  
    Reactome Protein details: O75038

    PLCH2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    PLCH2 Antibody Products:

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    Novus Biologicals PLCH2 Antibody
    Abcam antibodies for PLCH2
    Browse Antibodies at Cloud-Clone Corp.
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    PLCH2 Assay Products:

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    GenScript Custom Assay Services for PLCH2
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: PLCeta2
    Phosphoinositide-specific phospholipase C

    Selected InterPro protein domains (see all 12):
     IPR015359 PLipase_C_EF-hand-like
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR001192 PI-PLC_fam
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry O75038

    ProtoNet protein and cluster: O75038

    2 Blocks protein domains:
    IPB000008 C2 domain
    IPB000909 Phosphatidylinositol-specific phospholipase C


    UniProtKB/Swiss-Prot: PLCH2_HUMAN, O75038
    Similarity: Contains 1 C2 domain
    Similarity: Contains 2 EF-hand domains
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 PI-PLC X-box domain
    Similarity: Contains 1 PI-PLC Y-box domain


    PLCH2 for domains           About GeneDecksing


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

         UniProtKB/Swiss-Prot Summary: PLCH2_HUMAN, O75038
    Function: The production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate
    (IP3) is mediated by activated phosphatidylinositol-specific phospholipase C enzymes. This phospholipase activity
    is very sensitive to calcium. May be important for formation and maintenance of the neuronal network in the
    postnatal brain (By similarity)
    Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate
    + diacylglycerol

         Enzyme Number (IUBMB): EC 3.1.4.111 2

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0004435phosphatidylinositol phospholipase C activity IEA--
    GO:0004629phospholipase C activity ----
    GO:0004871signal transducer activity IEA--
    GO:0005509calcium ion binding IEA--
         
    PLCH2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PLCH2:
     Decreased influenza A virus in  Increased gamma-H2AX phosphory 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Plch2):
     normal 

    PLCH2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLCH2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PLCH2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PLCH2

    miRNA
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    miRTarBase miRNAs that target PLCH2:
    hsa-mir-26b-5p (MIRT029064), hsa-mir-331-3p (MIRT043301)

    Block miRNA regulation of human, mouse, rat PLCH2 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate PLCH2
    SwitchGear 3'UTR luciferase reporter plasmidPLCH2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PLCH2

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    OriGene clones in human, mouse for PLCH2 (see all 8)
    OriGene ORF clones in mouse, rat for PLCH2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: PLCH2 (NM_014638)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for PLCH2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PLCH2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PLCH2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCH2


    (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
    PLCH2_HUMAN, O75038: Cytoplasm. Cell membrane. Note=Localized predominantly at the plasma membrane (By
    similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--

    PLCH2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PLCH2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Inositol phosphate metabolism (REACTOME)
    Inositol phosphate metabolism0.59
    Synthesis of IP3 and IP4 in the cytosol0.59
    2Metabolism
    Metabolism0.38
    3Proton Pump Inhibitor Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PLCH2
        Phospholipase-C Pathway

    1 Reactome Pathway for PLCH2
        Synthesis of IP3 and IP4 in the cytosol

    1 PharmGKB Pathway for PLCH2
        Proton Pump Inhibitor Pathway, Pharmacodynamics


    PLCH2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLCH2
    Interactions:

        Search GeneGlobe Interaction Network for PLCH2

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

    Selected Interacting proteins for PLCH2 (ENSP000003677474) via UniProtKB, MINT, STRING, and/or I2D (see all 37)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITPKAENSP000002603864STRING: ENSP00000260386
    ITPKBENSP000002721174STRING: ENSP00000272117
    ITPKCENSP000002633704STRING: ENSP00000263370
    CCNCENSP000003582224STRING: ENSP00000358222
    MTORENSP000003545584STRING: ENSP00000354558
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0007165signal transduction ----
    GO:0008150biological_process ND--
    GO:0016042lipid catabolic process IEA--
    GO:0035556intracellular signal transduction IEA--

    PLCH2 for ontologies           About GeneDecksing



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

    Compounds for PLCH2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    FIPIPhospholipase D inhibitor[939055-18-2]
    m-3M3FBSPhospholipase C activator[200933-14-8]
    Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist [77286-66-9]
    U 73343Inactive analog of U 73122 (Cat. No. 1268)[142878-12-4]
    D609Selective PC-PLC inhibitor[83373-60-8]

    Selected HMDB Compounds for PLCH2 (see all 1223)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
    CalciumCa (see all 2)7440-70-2--
    DG(14:0/14:0/0:0)DAG(14:0/14:0) (see all 9)----
    DG(14:0/14:1(9Z)/0:0)DAG(14:0/14:1) (see all 15)----
    DG(14:0/15:0/0:0)Diacylglycerol(29:0) (see all 9)----
    DG(14:0/16:0/0:0)DAG(30:0) (see all 9)----
    DG(14:0/16:1(9Z)/0:0)DG(30:1) (see all 15)----
    DG(14:0/18:0/0:0)DG(14:0/18:0) (see all 9)----
    DG(14:0/18:1(11Z)/0:0)Diacylglycerol (see all 15)----
    DG(14:0/18:1(9Z)/0:0)1-myristoyl-2-oleoyl-sn-glycerol (see all 15)----



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PLCH2 gene: 
    NM_014638.2  

    Unigene Cluster for PLCH2:

    Phospholipase C, eta 2
    Hs.170156  [show with all ESTs]
    Unigene Representative Sequence: AK122589
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000609981 ENST00000449969(uc001ajj.1) ENST00000419816 ENST00000343889(uc001ajk.1)
    ENST00000278878(uc009vle.1) ENST00000473964 ENST00000462379(uc001ajl.1)
    ENST00000378486(uc010nyz.2 uc001aji.1) ENST00000378488 ENST00000288766

    miRNA
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    GenScript: all cDNA clones in your preferred vector: PLCH2 (NM_014638)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat PLCH2
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat PLCH2
      QuantiFast Probe-based Assays in human, mouse, rat PLCH2

    Additional mRNA sequence: 

    AB007919.2 AK074149.1 AK122589.1 AK122591.2 BC019679.1 BC037356.1 BC043358.1 BC044630.1 
    BC050037.1 BC128207.1 BC128208.1 BC139747.1 BC144620.1 DQ176850.1 

    8 DOTS entries:

    DT.306548  DT.97842876  DT.99948021  DT.100776121  DT.91937606  DT.100776122  DT.121425266  DT.75157885 

    Selected AceView cDNA sequences (see all 61):

    BI712927 AL118780 AB007919 BM310944 BC043358 BC019679 BF516265 BC044630 
    BC037356 AL134214 BE858584 BM671796 BC050037 BX279976 AK122589 BI791517 
    BM710160 AI692328 AI273249 BQ270113 BG394794 BF594783 BM971622 BM701744 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PLCH2 (see all 7)    About this scheme

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

    ExUns: 24a · 24b ^ 25 ^ 26a · 26b
    SP1:                              
    SP2:        -     -               
    SP3:        -     -               
    SP4:                              
    SP5:                              


    ECgene alternative splicing isoforms for PLCH2

    (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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    PLCH2 expression in normal human tissues (normalized intensities)      PLCH2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGACGCCTGC
    PLCH2 Expression
    About this image


    PLCH2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
     
     Ovary (Reproductive System)
             Granulosa Cells Primary Follicle
     
     Kidney (Urinary System)
             Ureteric Bud
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
     
     Neural Tube (Nervous System)
             Metencephalon
    PLCH2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLCH2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.170156

    UniProtKB/Swiss-Prot: PLCH2_HUMAN, O75038
    Tissue specificity: Expressed in retina and kidney

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PLCH2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plch21 , 5 phospholipase C, eta 21, 5 83.55(n)1
    83.64(a)1
      4 (86.13 cM)5
    2696151  NM_001113360.21  NP_001106831.11 
     1549831155 
    chicken
    (Gallus gallus)
    Aves PLCH21 phospholipase C, eta 2 68.98(n)
    73.72(a)
      428180  XM_425738.4  XP_425738.3 
    lizard
    (Anolis carolinensis)
    Reptilia PLCH26
    phospholipase C, eta 2
    56(a)
    1 ↔ 1
    GL343848.1(38473-103113)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.193422 Transcribed sequence with weak similarity to protein more 76.9(n)    AL878579.2 
    zebrafish
    (Danio rerio)
    Actinopterygii plch21 phospholipase C, eta 2 67.43(n)
    69.85(a)
      560919  XM_684319.6  XP_689411.6 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT2G401161 AT2G40116 43.21(n)
    37.57(a)
      818602  NM_179996.2  NP_850327.2 
    rice
    (Oryza sativa)
    Liliopsida Os07g06940001 Os07g0694000 46.73(n)
    35.25(a)
      4344391  NM_001067270.1  NP_001060735.1 


    ENSEMBL Gene Tree for PLCH2 (if available)
    TreeFam Gene Tree for PLCH2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLCH2 gene
    PLCD42  PLCD12  PLCB22  PLCZ12  PLCH12  PLCB32  PLCD32  PLCB12  
    PLCB42  PLCL12  PLCL22  
    8 SIMAP similar genes for PLCH2 using alignment to 6 protein entries:     PLCH2_HUMAN (see all proteins):
    FLJ00414    PLCH1    PLCG2    PLCD4    PLCL1    PLCD3
    PLCL2    PLCZ1

    PLCH2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PLCH2 (see all 884)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs709563051,2
    C--2405835(+) AGGAA-/GGGGAT 1 -- us2k13Minor allele frequency- G:0.17NA CSA 6
    rs1476352711,2
    --2405952(+) CCAGGA/CACTCT 1 -- us2k10--------
    rs558175481,2
    F--2405997(+) GATGGC/TGGCCT 1 -- us2k11Minor allele frequency- T:0.03WA 118
    rs1423072011,2
    C--2406086(+) GCCTTA/GGGGAG 1 -- us2k10--------
    rs1146347461,2
    C,F--2406104(+) GAGGGA/TTGGGT 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs1825880851,2
    --2406329(+) CCTGCA/GCTGCC 1 -- us2k10--------
    rs1883885111,2
    --2406343(+) TACACA/GGTGGC 1 -- us2k10--------
    rs1928796441,2
    --2406355(+) TTCCCC/TGAGGC 1 -- us2k10--------
    rs133763401,2
    C,F,H--2406366(+) CCTGTC/GTTCCT 1 -- us2k15Minor allele frequency- G:0.05NS EA WA 536
    rs1157020451,2
    C,F--2406472(+) CTTCCG/ACCGAG 1 -- us2k11Minor allele frequency- A:0.02EA 120

    HapMap Linkage Disequilibrium report for PLCH2 (2357419 - 2436969 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLCH2 (see all 23):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719473CNV Deletion23290073
    esv2719584CNV Deletion23290073
    nsv871726CNV Loss21882294
    dgv79n71CNV Loss21882294
    dgv72n71CNV Loss21882294
    dgv81n71CNV Loss21882294
    dgv74n71CNV Loss21882294
    nsv818222CNV Loss17921354
    nsv871255CNV Loss21882294
    dgv71n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612836    OMIM disorders: --

    4 diseases for PLCH2:    About MalaCards
    mental retardation    ulcerative colitis    inflammatory bowel disease    neuronitis


    PLCH2 for disorders           About GeneDecksing


    Export disorders for PLCH2 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 PLCH2 gene, integrated from 10 sources (see all 15):
    (articles sorted by number of sources associating them with PLCH2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel phospholipase C, PLC(eta)2, is a neuron-specific isozyme. (PubMed id 15899900)1, 3, 9 Nakahara M....Fukami K. (J. Biol. Chem. 2005)
    2. Molecular cloning and characterization of PLC-eta2. (PubMed id 16107206)1, 2 Zhou Y.... Harden T.K. (Biochem. J. 2005)
    3. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (DNA Res. 1997)
    4. Activation of human phospholipase C-eta2 by Gbetagamma. (PubMed id 18361507)1, 9 Zhou Y....Harden T.K. (Biochemistry 2008)
    5. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. (PubMed id 23128233)1 Jostins L....Cho J.H. (Nature 2012)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (Nat. Genet. 2011)
    8. Role of phosphoinositide-specific phospholipase C I^2 in isolated and syndromic mental retardation. (PubMed id 21474938)1 Lo Vasco V.R. (Eur. Neurol. 2011)
    9. Investigating SNPs flanking the D1S80 locus in a Tamil population from India. (PubMed id 20649401)1 Balamurugan K....Tracey M. (Hum. Biol. 2010)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (Nature 2006)

    (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: 9651 HGNC: 29037 AceView: PLCL4 Ensembl:ENSG00000149527 euGenes: HUgn9651
    ECgene: PLCH2 H-InvDB: PLCH2

    (According to HUGE)
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    HUGE: KIAA0450

    (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 PLCH2 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 PLCH2 gene:
    Search GeneIP for patents involving PLCH2

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



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