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

PLCH2 Gene

protein-coding   GIFtS: 53
GCID: GC01P002397

phospholipase C, eta 2

(Previous name: phospholipase C-like 4 )
(Previous symbol: PLCL4)
 Explore 2 diseases affiliated with
PLCH2 via our new
 Human Malady Compendium 
Biological research products
for PLCH2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Phospholipase C, Eta 21 2     Phospholipase C-Eta-22 3
PLCL41 2 3 5     Phospholipase C-Like Protein 42 3
PLC-Eta21     PLC-L42 3
PLCeta21 2     EC 3.1.4.113 8
Phospholipase C-Like 41 2     RP3-395M20.11
KIAA04501 3     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     Phospholipase C-Eta22

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PLCH2:
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)

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:
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004350.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PLCH2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
2,398,898 bp from pter      End:
2,436,969 bp from pter
Size:
38,072 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: Cytoplasm. Cell membrane. Note=Localized predominantly at the plasma membrane (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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O75038

  • 4/7 DME Specific Peptides for PLCH2 (O75038) (see all 7)
     RVDSSNY  QLSRIYP  CGYVLKP  SSHNTYL 

    PLCH2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_055453.2  
    ENSEMBL proteins: 
     ENSP00000367744   ENSP00000341313   ENSP00000278878   ENSP00000389803   ENSP00000397289  
     ENSP00000367747   ENSP00000367749   ENSP00000288766  
    Reactome Protein details: O75038
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005622intracellular ----
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--


    PLCH2 for ontologies           About GeneDecksing



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    Browse ELISAs and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    PLCH2 for domains           About GeneDecksing

    5/13 InterPro domains/families (see all 13):
     IPR015359 PLipase_C_EF-hand-like
     IPR011992 EF-hand-like_dom
     IPR002048 EF_hand_Ca-bd
     IPR001192 Pinositol_PLipase_C
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry O75038

    ProtoNet protein and cluster: O75038

    2 Blocks protein families:
    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


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

    Function Summary:

         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)
    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

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    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    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


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

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

    PLCH2 for phenotypes           About GeneDecksing


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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Synthesis of IP3 and IP4 in the cytosol
    Synthesis of IP3 and IP4 in the cytosol1.00
    Inositol phosphate metabolism0.57
    2Metabolism
    Metabolism1.00
    3Proton Pump Inhibitor Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for PLCH2
        Metabolism
    Inositol phosphate metabolism
    Synthesis of IP3 and IP4 in the cytosol

    1 PharmGKB Pathway for PLCH2
        Proton Pump Inhibitor Pathway, Pharmacodynamics


    PLCH2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PLCH2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/11 Interacting proteins for PLCH2 (ENSP000003677474) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IPMKENSP000003630464STRING: ENSP00000363046
    ITPKAENSP000002603864STRING: ENSP00000260386
    ITPKBENSP000002721174STRING: ENSP00000272117
    ITPKCENSP000002633704STRING: ENSP00000263370
    PIP4K2AENSP000003657574STRING: ENSP00000365757
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process ----
    GO:0008150biological_process ND--
    GO:0016042lipid catabolic process IEA--
    GO:0035556intracellular signal transduction IEA--
    GO:0046488phosphatidylinositol metabolic process IEA--


    PLCH2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    EMD Millipore small molecules for PLCH2:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for PLCH2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    m-3M3FBSPhospholipase C activator[200933-14-8]
    AACOCF3Phospholipase A2 inhibitor[149301-79-1]
    U 73122Phospholipase C inhibitor[112648-68-7]
    D609Selective PC-PLC inhibitor[83373-60-8]

    10/1223 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)----
    Search CenterWatch for drugs/clinical trials and news about PLCH2 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000498669 ENST00000378483 ENST00000343889(uc001ajk.1) ENST00000278878(uc009vle.1)
    ENST00000419816 ENST00000473964 ENST00000462379(uc001ajl.1) ENST00000449969(uc001ajj.1)
    ENST00000378486(uc010nyz.2 uc001aji.1) ENST00000378488 ENST00000288766


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    Additional cDNA 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 

    24/61 AceView cDNA sequences (see all 61):

    BC037356 BM310944 AL134214 BC044630 BF516265 AL118780 AB007919 BE858584 
    BC050037 BI791517 BM710160 BI712927 AK122589 BC019679 BM671796 BC043358 
    BX279976 BM701744 BM710378 CA777527 BE908459 CA312958 BF594783 AI273249 

    GeneLoc Exon Structure

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PLCH2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGACGCCTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    PLCH2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    OvaryPrimary FollicleGranulosa CellsOvary
    BrainMedulla OblongataBrain
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 6 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ progenitor T42 (Embryonic Progenitor Cell)
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)

    See PLCH2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PLCH2

    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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PLCH2 gene from 7/22 species (see all 22)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves PLCH21 phospholipase C, eta 2 69.32(n)
    74.64(a)
      428180  XM_425738.3  XP_425738.2 
    lizard
    (Anolis carolinensis)
    Reptilia PLCH26
    --
    66(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 67.47(n)
    69.94(a)
      560919  XM_684319.5  XP_689411.5 
    worm
    (Caenorhabditis elegans)
    Secernentea plc-46
    PhosphoLipase C family member (plc-4)
    29(a)
    possible ortholog
    IV(7509454-7512662)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons PLC41 phosphoinositide phospholipase C 4 44.25(n)
    37.26(a)
      835984  NM_125257.2  NP_200678.2 
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 4)
    phospholipase C, putative, expressed
    (see all 4)
    27(a)
    25(a)
    (see all 4)
    many ↔ many
    many ↔ many
    (see all 4)
    3(10024184-10026867)
    5(1535692-1541555)


    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)
    About This Section
    Paralogs for PLCH2 gene
    PLCG22  PLCD42  PLCD12  PLCG12  PLCB22  PLCZ12  PLCB32  PLCH12  
    PLCD32  PLCB12  PLCB42  PLCL12  PLCL22  
    7 SIMAP similar genes for PLCH2 using alignment to 6 protein entries:     PLCH2_HUMAN (see all proteins):
    FLJ00414    PLCH1    PLCL1    PLCD4    PLCL2    PLCD3
    PLCZ1

    PLCH2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/521 NCBI SNPs in PLCH2 are shown (see all 521    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
    --2406086(+) GCCTTA/GGGGAG 1 -- us2k10--------
    rs1146347461,2
    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 (2398898 - 2436969 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for PLCH2
         7 CNVs: 29819 53347 29815 29818 29820 9866 29817

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    (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.)
    About This Section

    PLCH2 for disorders           About GeneDecksing

    OMIM gene information: 612836    OMIM disorders: --

    2 diseases for PLCH2:    About MalaCards
    immunodeficiency    neuronitis


    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)
    About This Section

    PubMed articles for PLCH2 gene, integrated from 9 sources (see all 14):
    (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. (2005)
    2. Molecular cloning and characterization of PLC-eta2. (PubMed id 16107206)1, 2 Zhou Y.... Harden T.K. (2005)
    3. Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484)1, 2 Seki N.... Ohara O. (1997)
    4. Activation of human phospholipase C-eta2 by Gbetagamma. (PubMed id 18361507)1, 9 Zhou Y....Harden T.K. (2008)
    5. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    6. Meta-analysis identifies 29 additional ulcerative col itis risk loci, increasing the number of confirmed associations to 47. (PubMed id 21297633)1 Anderson C.A....Rioux J.D. (2011)
    7. Role of phosphoinositide-specific phospholipase C I^2 in isolated and syndromic mental retardation. (PubMed id 21474938)1 Lo Vasco V.R. (2011)
    8. Investigating SNPs flanking the D1S80 locus in a Tami l population from India. (PubMed id 20649401)1 Balamurugan K....Tracey M. (2010)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)2 Gregory S.G.... Bentley D.R. (2006)
    10. Identification of a novel class of mammalian phosphoinositol-specific phospholipase C enzymes. (PubMed id 15583837)1 Stewart A.J....Farquharson C. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 9651 HGNC: 29037 AceView: PLCL4 Ensembl:ENSG00000149527 euGenes: HUgn9651
    ECgene: PLCH2 H-InvDB: PLCH2

    (According to HUGE)
    About This Section
    HUGE: KIAA0450

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PLCH2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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