Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PLCH2 (phospholipase C eta 2)

Identity

Alias_namesPLCL4
phospholipase C-like 4
phospholipase C, eta 2
Alias_symbol (synonym)KIAA0450
PLCeta2
RP3-395M20.1
PLC-eta2
Other aliasPLC-L4
HGNC (Hugo) PLCH2
LocusID (NCBI) 9651
Atlas_Id 71969
Location 1p36.32  [Link to chromosome band 1p36]
Location_base_pair Starts at 2467459 and ends at 2505530 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
MEGF6 (1p36.32) / PLCH2 (1p36.32)PLCH2 (1p36.32) / GABARAPL2 (16q23.1)PLCH2 (1p36.32) / KHDRBS1 (1p35.1)
PPP2R2B (5q32) / PLCH2 (1p36.32)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PLCH2   29037
Cards
Entrez_Gene (NCBI)PLCH2  9651  phospholipase C eta 2
AliasesPLC-L4; PLC-eta2; PLCL4; PLCeta2
GeneCards (Weizmann)PLCH2
Ensembl hg19 (Hinxton)ENSG00000149527 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149527 [Gene_View]  chr1:2467459-2505530 [Contig_View]  PLCH2 [Vega]
ICGC DataPortalENSG00000149527
TCGA cBioPortalPLCH2
AceView (NCBI)PLCH2
Genatlas (Paris)PLCH2
WikiGenes9651
SOURCE (Princeton)PLCH2
Genetics Home Reference (NIH)PLCH2
Genomic and cartography
GoldenPath hg38 (UCSC)PLCH2  -     chr1:2467459-2505530 +  1p36.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PLCH2  -     1p36.32   [Description]    (hg19-Feb_2009)
EnsemblPLCH2 - 1p36.32 [CytoView hg19]  PLCH2 - 1p36.32 [CytoView hg38]
Mapping of homologs : NCBIPLCH2 [Mapview hg19]  PLCH2 [Mapview hg38]
OMIM612836   
Gene and transcription
Genbank (Entrez)AB007919 AK074149 AK122589 AK122591 BC019679
RefSeq transcript (Entrez)NM_001303012 NM_001303013 NM_014638
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_187515
Consensus coding sequences : CCDS (NCBI)PLCH2
Cluster EST : UnigeneHs.170156 [ NCBI ]
CGAP (NCI)Hs.170156
Alternative Splicing GalleryENSG00000149527
Gene ExpressionPLCH2 [ NCBI-GEO ]   PLCH2 [ EBI - ARRAY_EXPRESS ]   PLCH2 [ SEEK ]   PLCH2 [ MEM ]
Gene Expression Viewer (FireBrowse)PLCH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9651
GTEX Portal (Tissue expression)PLCH2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75038   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75038  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75038
Splice isoforms : SwissVarO75038
Catalytic activity : Enzyme3.1.4.11 [ Enzyme-Expasy ]   3.1.4.113.1.4.11 [ IntEnz-EBI ]   3.1.4.11 [ BRENDA ]   3.1.4.11 [ KEGG ]   
PhosPhoSitePlusO75038
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    PH_DOMAIN (PS50003)    PIPLC_X_DOMAIN (PS50007)    PIPLC_Y_DOMAIN (PS50008)   
Domains : Interpro (EBI)C2_dom    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    PH_dom-like    PH_domain    PI-PLC_fam    PLC-eta2    PLC-like_Pdiesterase_TIM-brl    PLC_EF-hand-like    PLipase_C_PInositol-sp_X_dom    PLipase_C_Pinositol-sp_Y   
Domain families : Pfam (Sanger)C2 (PF00168)    EF-hand_like (PF09279)    PH_12 (PF16457)    PI-PLC-X (PF00388)    PI-PLC-Y (PF00387)   
Domain families : Pfam (NCBI)pfam00168    pfam09279    pfam16457    pfam00388    pfam00387   
Domain families : Smart (EMBL)C2 (SM00239)  EFh (SM00054)  PH (SM00233)  PLCXc (SM00148)  PLCYc (SM00149)  
Conserved Domain (NCBI)PLCH2
DMDM Disease mutations9651
Blocks (Seattle)PLCH2
SuperfamilyO75038
Human Protein AtlasENSG00000149527
Peptide AtlasO75038
IPIIPI00654552   IPI00873071   IPI00744887   IPI00409676   IPI00384764   
Protein Interaction databases
DIP (DOE-UCLA)O75038
IntAct (EBI)O75038
FunCoupENSG00000149527
BioGRIDPLCH2
STRING (EMBL)PLCH2
ZODIACPLCH2
Ontologies - Pathways
QuickGOO75038
Ontology : AmiGOmolecular_function  phosphatidylinositol phospholipase C activity  signal transducer activity  calcium ion binding  cellular_component  cytoplasm  plasma membrane  biological_process  lipid catabolic process  intracellular signal transduction  inositol phosphate metabolic process  phosphatidylinositol metabolic process  
Ontology : EGO-EBImolecular_function  phosphatidylinositol phospholipase C activity  signal transducer activity  calcium ion binding  cellular_component  cytoplasm  plasma membrane  biological_process  lipid catabolic process  intracellular signal transduction  inositol phosphate metabolic process  phosphatidylinositol metabolic process  
NDEx NetworkPLCH2
Atlas of Cancer Signalling NetworkPLCH2
Wikipedia pathwaysPLCH2
Orthology - Evolution
OrthoDB9651
GeneTree (enSembl)ENSG00000149527
Phylogenetic Trees/Animal Genes : TreeFamPLCH2
HOVERGENO75038
HOGENOMO75038
Homologs : HomoloGenePLCH2
Homology/Alignments : Family Browser (UCSC)PLCH2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPLCH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLCH2
dbVarPLCH2
ClinVarPLCH2
1000_GenomesPLCH2 
Exome Variant ServerPLCH2
ExAC (Exome Aggregation Consortium)PLCH2 (select the gene name)
Genetic variants : HAPMAP9651
Genomic Variants (DGV)PLCH2 [DGVbeta]
DECIPHERPLCH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPLCH2 
Mutations
ICGC Data PortalPLCH2 
TCGA Data PortalPLCH2 
Broad Tumor PortalPLCH2
OASIS PortalPLCH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLCH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPLCH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PLCH2
DgiDB (Drug Gene Interaction Database)PLCH2
DoCM (Curated mutations)PLCH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLCH2 (select a term)
intoGenPLCH2
Cancer3DPLCH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612836   
Orphanet
MedgenPLCH2
Genetic Testing Registry PLCH2
NextProtO75038 [Medical]
TSGene9651
GENETestsPLCH2
Target ValidationPLCH2
Huge Navigator PLCH2 [HugePedia]
snp3D : Map Gene to Disease9651
BioCentury BCIQPLCH2
ClinGenPLCH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9651
Chemical/Pharm GKB GenePA134914471
Clinical trialPLCH2
Miscellaneous
canSAR (ICR)PLCH2 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLCH2
EVEXPLCH2
GoPubMedPLCH2
iHOPPLCH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 31 15:36:34 CEST 2017

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