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PLCL1 Gene

protein-coding   GIFtS: 56
GCID: GC02P198669

Phospholipase C-Like 1

(Previous names: phospholipase C, epsilon)
(Previous symbol: PLCE)
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(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-Like 11 2     PLCL2 5
PLCE1 2 5     PLDL12 5
Phospholipase C, Epsilon1 2     But Catalytically Inactive Protein1
Phospholipase C-Deleted In Lung Carcinoma2 3     Phospholipase C Related1
Phospholipase C-Related But Catalytically Inactive Protein2 3     Inactive Phospholipase C-Like Protein 12
PLC-L12 3     Phospholipase C Related, But Catalytically Inactive Protein2
PRIP2 3     

External Ids:    HGNC: 90631   Entrez Gene: 53342   Ensembl: ENSG000001158967   OMIM: 6005975   UniProtKB: Q151113   

Export aliases for PLCL1 gene to outside databases

Previous GC identifers: GC02P197147 GC02P197661 GC02P198912 GC02P199151 GC02P199033 GC02P198774 GC02P198523 GC02P198377 GC02P190521


(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 PLCL1 Gene:
PLCL1 (phospholipase C-like 1) is a protein-coding gene. 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: PLCL1_HUMAN, Q15111
Function: Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to
phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol. Component in the phospho-dependent endocytosis
process of GABA A receptor (By similarity). Regulates the turnover of receptors and thus contributes to the
maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and
progression of lung carcinoma. Acts as a inhibitor of PPP1C




(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  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PLCL1 gene promoter:
         AhR   Pax-6   MIF-1   NF-kappaB   Cdc5   Arnt   AREB6   SRY   Ik-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPLCL1 promoter sequence
   Search Chromatin IP Primers for PLCL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PLCL1


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

Entrez Gene cytogenetic band: 2q33   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33

PLCL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PLCL1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P198669:  view genomic region     (about GC identifiers)

Start:
198,669,426 bp from pter      End:
199,437,305 bp from pter
Size:
767,880 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, 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: PLCL1_HUMAN, Q15111 (See protein sequence)
Recommended Name: Inactive phospholipase C-like protein 1  
Size: 1095 amino acids; 122728 Da
Subunit: Interacts with PPP2CA (By similarity). Interacts with Ins(1,4,5)P3, Ins(1,4,5,6)P4, GABARAP, GABA
receptor beta subunits, GABA receptor gamma-2 subunits and PPP1C. May form a ternary complex with GABA receptor
beta subunit and GABARAP. The formation of a ternary complex with GABA receptor beta subunit and GABARAP could be
the key step for facilitating the association of GABARAP with the GABA receptor gamma-2 subunit and to allow it
to be transported at the right destination
Caution: In the PI-PLC X-box Asn-458 is present instead of the conserved His which is one of the active site
residues. It is therefore expected that this protein lacks catalytic activity
Secondary accessions: Q3MJ90 Q53SD3 Q7Z3S3
Alternative splicing: 2 isoforms:  Q15111-1   Q15111-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PLCL1: NX_Q15111

Explore proteomics data for PLCL1 at MOPED

Post-translational modifications: 

  • Phosphorylated by the catalytic subunit of PKA. Phosphorylation of Thr-93 resulted in dissociation of PPP1C from
    PRIP1 (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PLCL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006217.3  
    ENSEMBL proteins: 
     ENSP00000402861   ENSP00000410488   ENSP00000457588   ENSP00000414138  

    PLCL1 Human Recombinant Protein Products:

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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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    Selected InterPro protein domains (see all 10):
     IPR015359 PLipase_C_EF-hand-like
     IPR011992 EF-hand-dom_pair
     IPR001192 PI-PLC_fam
     IPR001849 Pleckstrin_homology
     IPR028382 PLCL1

    Graphical View of Domain Structure for InterPro Entry Q15111

    ProtoNet protein and cluster: Q15111

    3 Blocks protein domains:
    IPB000008 C2 domain
    IPB000909 Phosphatidylinositol-specific phospholipase C
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: PLCL1_HUMAN, Q15111
    Similarity: Contains 1 C2 domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 PI-PLC X-box domain
    Similarity: Contains 1 PI-PLC Y-box domain


    Find genes that share domains with PLCL1           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: PLCL1_HUMAN, Q15111
    Function: Involved in an inositol phospholipid-based intracellular signaling cascade. Shows no PLC activity to
    phosphatidylinositol 4,5-bisphosphate and phosphatidylinositol. Component in the phospho-dependent endocytosis
    process of GABA A receptor (By similarity). Regulates the turnover of receptors and thus contributes to the
    maintenance of GABA-mediated synaptic inhibition. Its aberrant expression could contribute to the genesis and
    progression of lung carcinoma. Acts as a inhibitor of PPP1C

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004435phosphatidylinositol phospholipase C activity IEA--
    GO:0004629phospholipase C activity TAS7633416
    GO:0004871signal transducer activity IEA--
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with PLCL1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for PLCL1:
     Decreased POU5F1-GFP protein e 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Plcl1):
     behavior/neurological  homeostasis/metabolism  mortality/aging  nervous system 

    Find genes that share phenotypes with PLCL1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Plcl1tm1Mh for PLCL1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PLCL1
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PLCL1 (see all 64):
    hsa-miR-607 hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-3653 hsa-miR-519a hsa-miR-10b* hsa-miR-1273d
    SwitchGear 3'UTR luciferase reporter plasmidPLCL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PLCL1

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    GenScript: all cDNA clones in your preferred vector: PLCL1 (NM_006226)
    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCL1


    (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
    PLCL1_HUMAN, Q15111: Cytoplasm (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    extracellular2
    nucleus2
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    Find genes that share ontologies with PLCL1           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 PLCL1 About    
    See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    GABAergic synapse0.53
    2Proton Pump Inhibitor Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics


    Find genes that share SuperPaths with PLCL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 PharmGKB Pathway for PLCL1
        Proton Pump Inhibitor Pathway, Pharmacodynamics

    1 Kegg Pathway  (Kegg details for PLCL1):
        GABAergic synapse

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PLCL1
    Interactions:

        Search GeneGlobe Interaction Network for PLCL1

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

    Selected Interacting proteins for PLCL1 (ENSP000004141384) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCNCENSP000003582224STRING: ENSP00000358222
    MTORENSP000003545584STRING: ENSP00000354558
    PITPNM1ENSP000003487724STRING: ENSP00000348772
    PITPNM2ENSP000003222184STRING: ENSP00000322218
    SKP1ENSP000002314874STRING: ENSP00000231487
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006629lipid metabolic process IEA--
    GO:0007165signal transduction ----
    GO:0007610behavior ----
    GO:0032228regulation of synaptic transmission, GABAergic IEA--
    GO:0035556intracellular signal transduction IEA--

    Find genes that share ontologies with PLCL1           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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PLCL1

    Selected HMDB Compounds for PLCL1 (see all 843)    About this table
    CompoundSynonyms CAS #PubMed Ids
    DG(16:0e/18:0/0:0)2-Octadecanoyl-1-hexadecyl-sn-glycerol (see all 2)--12486725
    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)----
    DG(14:0/18:2(9Z,12Z)/0:0)DAG(14:0/18:2n6) (see all 15)----

    1 DrugBank Compound for PLCL1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Quinacrine-- 83-89-6targetinhibitor8469910 11207202 1860838 2551803 7573467

    4 Novoseek inferred chemical compound relationships for PLCL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phospholipid 35.3 2 16472663 (2)
    calcium 25.7 3 15319437 (1), 17098795 (1)
    cyclic amp 23.5 1 11877431 (1)
    tyrosine 0 1 15143162 (1)



    Find genes that share compounds with PLCL1           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 PLCL1 gene: 
    NM_006226.3  

    Unigene Cluster for PLCL1:

    Phospholipase C-like 1
    Hs.153322  [show with all ESTs]
    Unigene Representative Sequence: NM_006226
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000428675 ENST00000435320(uc010fsp.3 uc002uuv.4) ENST00000487695
    ENST00000472193 ENST00000437704
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PLCL1 (see all 64):
    hsa-miR-607 hsa-miR-520e hsa-miR-302d hsa-miR-429 hsa-miR-3653 hsa-miR-519a hsa-miR-10b* hsa-miR-1273d
    SwitchGear 3'UTR luciferase reporter plasmidPLCL1 3' UTR sequence
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    Additional mRNA sequence: 

    AK127514.1 AK302673.1 BC101531.1 BC111985.1 BX537442.1 D42108.1 

    4 DOTS entries:

    DT.211899  DT.310474  DT.99979575  DT.120960310 

    Selected AceView cDNA sequences (see all 40):

    AK127514 AA233025 AA232851 AA411387 BX118228 AI804172 AA911491 BQ128361 
    AI091851 AA232250 AI332504 BG206188 BX537442 Z44551 BF526498 BV183429 
    AI983538 BP340710 BU753689 AW772460 BX502013 BX502097 D42108 NM_006226 

    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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    PLCL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAAAAAGAAA
    PLCL1 Expression
    About this image


    PLCL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Mature Endothelial Cells Blood Brain Barrier
     
     Heart (Cardiovascular System)
     
     Spinal Cord (Nervous System)
    PLCL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PLCL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.153322

    UniProtKB/Swiss-Prot: PLCL1_HUMAN, Q15111
    Tissue specificity: Expressed in a variety of fetal and adult organs including brain, lung and kidney. Its
    expression was greatly reduced in small and non-small cell lung carcinoma. Isoform 1 is predominantly expressed
    in brain

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PLCL1

    (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 animals.

    Orthologs for PLCL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Plcl11 , 5 phospholipase C-like 11, 5 88.07(n)1
    94.52(a)1
      1 (28.15 cM)5
    2271201  NM_001114663.11  NP_001108135.11 
     554063885 
    chicken
    (Gallus gallus)
    Aves PLCL11 phospholipase C-like 1 79.07(n)
    86.7(a)
      424060  XM_421916.4  XP_421916.3 
    lizard
    (Anolis carolinensis)
    Reptilia PLCL16
    phospholipase C-like 1
    82(a)
    1 ↔ 1
    GL343436.1(246053-391276)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia plcl11 phospholipase C-like 1 74.77(n)
    82.43(a)
      100495595  XM_002937723.2  XP_002937769.2 
    zebrafish
    (Danio rerio)
    Actinopterygii plcl16
    phospholipase C-like 1
    53(a)
    1 ↔ 1
    9(33391822-33490451) ENSDARG00000067676
    worm
    (Caenorhabditis elegans)
    Secernentea pll-16
    plc-46
    Protein PLC-4 (plc-4) mRNA, complete cds
    40(a)
    32(a)
    many ↔ many
    many ↔ many
    III(365949-377558) WBGene00004045
    IV(7509465-7512673) WBGene00004039


    ENSEMBL Gene Tree for PLCL1 (if available)
    TreeFam Gene Tree for PLCL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PLCL1 gene
    PLCD42  PLCD12  PLCB22  PLCZ12  PLCH12  PLCB32  PLCD32  PLCH22  
    PLCB12  PLCB42  PLCL22  
    8 SIMAP similar genes for PLCL1 using alignment to 3 protein entries:     PLCL1_HUMAN (see all proteins):
    PLCL2    PLCZ1    PLCD4    DKFZp686K101    PLCD1    PLCH2
    FLJ00414    PLCD3

    Find genes that share paralogs with PLCL1           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 PLCL1 (see all 6051)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs38361341,2
    C--198341680(+) taact-/GTacatt 1 -- int10--------
    rs608671261,2
    C,F--198667474(+) CAAGAT/CAATGA 1 -- us2k12Minor allele frequency- C:0.10WA 120
    rs1457858261,2
    --198667722(+) ACATGG/TATGGT 1 -- us2k10--------
    rs1393188771,2
    --198667882(+) CTCAGA/GATCTC 1 -- us2k10--------
    rs755479651,2
    C,F--198667934(+) ACTCTC/GTACAG 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs608105551,2
    C,F--198668005(+) ATTCCC/TTAGTA 1 -- us2k12Minor allele frequency- T:0.10WA 120
    rs1494321001,2
    --198668025(+) TGTCAA/GATCTG 1 -- us2k10--------
    rs1447649841,2
    --198668026(+) GTCAAA/GTCTGA 1 -- us2k10--------
    rs778032641,2
    C,F--198668203(+) TGATGT/CCCTAG 1 -- us2k11Minor allele frequency- C:0.03NA 120
    rs7710151,2
    C,F,A--198668294(-) GCTAAC/TAGCAT 1 -- us2k18Minor allele frequency- T:0.49NA WA CSA EA 367

    HapMap Linkage Disequilibrium report for PLCL1 (198669426 - 198919426 bp, first 250kb of PLCL1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PLCL1 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721341CNV Deletion23290073
    esv2576992CNV Deletion19546169
    esv988447CNV Deletion20482838
    esv2721340CNV Deletion23290073
    esv2632650CNV Deletion19546169
    esv2721342CNV Deletion23290073
    esv2721338CNV Deletion23290073
    esv2008876CNV Deletion18987734
    esv2671075CNV Deletion23128226
    esv2659675CNV Deletion23128226

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PLCL1
    DNA2.0 Custom Variant and Variant Library Synthesis for PLCL1

    (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: 600597    OMIM disorders: --


    Find genes that share disorders with PLCL1           About GenesLikeMe

    1 Novoseek inferred disease relationship for PLCL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 15558028 (1)

    Genetic Association Database (GAD): PLCL1
    Human Genome Epidemiology (HuGE) Navigator: PLCL1 (6 documents)

    Export disorders for PLCL1 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 PLCL1 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with PLCL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel phospholipase C family gene at chromosome 2q33 that is homozygously deleted in human small cell lung carcinoma. (PubMed id 7633416)1, 2, 3 Kohno T....Yokota J. (Hum. Mol. Genet. 1995)
    2. PLCL1 rs7595412 variation is not associated with hip bone size variation in postmenopausal Danish women. (PubMed id 20030815)1, 4, 9 Cauchi S....Froguel P. (BMC Med. Genet. 2009)
    3. Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study. (PubMed id 18776929)1, 4, 9 Liu Y.Z....Deng H.W. (PLoS ONE 2008)
    4. A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants. (PubMed id 22219177)1, 4 Tao S....Sun J. (Carcinogenesis 2012)
    5. Duffy-null-associated low neutrophil counts influence HIV-1 susceptibility in high-risk South African black women. (PubMed id 21507922)1, 4 Ramsuran V....Ndung'u T. (Clin. Infect. Dis. 2011)
    6. Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies. (PubMed id 21102462)1, 4 Elks C.E....Murray A. (Nat. Genet. 2010)
    7. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PubMed id 21102463)1, 4 Franke A....Parkes M. (Nat. Genet. 2010)
    8. 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)
    9. Susceptibility loci for intracranial aneurysm in European and Japanese populations. (PubMed id 18997786)1, 4 Bilguvar K....GA1nel M. (Nat. Genet. 2008)
    10. Characterization of the human PRIP-1 gene structure and transcriptional regulation. (PubMed id 16952428)1, 2 Murakami A.... Hirata M. (Gene 2006)

    (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: 5334 HGNC: 9063 AceView: PLCL1 Ensembl:ENSG00000115896 euGenes: HUgn5334
    ECgene: PLCL1 Kegg: 5334 H-InvDB: PLCL1

    (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 PLCL1 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 PLCL1 gene:
    Search GeneIP for patents involving PLCL1

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



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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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