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PLCB4 (phospholipase C beta 4)

Identity

Other namesARCND2
PI-PLC
HGNC (Hugo) PLCB4
LocusID (NCBI) 5332
Atlas_Id 47059
Location 20p12.2  [Link to chromosome band 20p12]
Location_base_pair Starts at 9288447 and ends at 9461462 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
PLCB4 (20p12.2) / BMP2 (20p12.3)PLCB4 (20p12.2) / GBE1 (3p12.2)PLCB4 (20p12.2) / PLCB1 (20p12.3)
PLCB4 (20p12.2) / PLCB4 (20p12.2)RNF187 (1q42.13) / PLCB4 (20p12.2)SLC24A3 (20p11.23) / PLCB4 (20p12.2)
TNRC6C (17q25.3) / PLCB4 (20p12.2)ZC3H7A (16p13.13) / PLCB4 (20p12.2)PLCB4 20p12.2 / BMP2 20p12.3
SLC24A3 20p11.23 / PLCB4 20p12.2TNRC6C 17q25.3 / PLCB4 20p12.2

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)PLCB4   9059
Cards
Entrez_Gene (NCBI)PLCB4  5332  phospholipase C beta 4
AliasesARCND2; PI-PLC
GeneCards (Weizmann)PLCB4
Ensembl hg19 (Hinxton)ENSG00000101333 [Gene_View]  chr20:9288447-9461462 [Contig_View]  PLCB4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000101333 [Gene_View]  chr20:9288447-9461462 [Contig_View]  PLCB4 [Vega]
ICGC DataPortalENSG00000101333
TCGA cBioPortalPLCB4
AceView (NCBI)PLCB4
Genatlas (Paris)PLCB4
WikiGenes5332
SOURCE (Princeton)PLCB4
Genomic and cartography
GoldenPath hg19 (UCSC)PLCB4  -     chr20:9288447-9461462 +  20p12.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PLCB4  -     20p12.2   [Description]    (hg38-Dec_2013)
EnsemblPLCB4 - 20p12.2 [CytoView hg19]  PLCB4 - 20p12.2 [CytoView hg38]
Mapping of homologs : NCBIPLCB4 [Mapview hg19]  PLCB4 [Mapview hg38]
OMIM600810   614669   
Gene and transcription
Genbank (Entrez)AK025027 AK054754 AK057634 AK122699 AK307482
RefSeq transcript (Entrez)NM_000933 NM_001172646 NM_182797
RefSeq genomic (Entrez)NC_000020 NC_018931 NG_032790 NT_011387 NW_004929416
Consensus coding sequences : CCDS (NCBI)PLCB4
Cluster EST : UnigeneHs.472101 [ NCBI ]
CGAP (NCI)Hs.472101
Alternative Splicing GalleryENSG00000101333
Gene ExpressionPLCB4 [ NCBI-GEO ]   PLCB4 [ EBI - ARRAY_EXPRESS ]   PLCB4 [ SEEK ]   PLCB4 [ MEM ]
Gene Expression Viewer (FireBrowse)PLCB4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5332
GTEX Portal (Tissue expression)PLCB4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15147 (Uniprot)
NextProtQ15147  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15147
Splice isoforms : SwissVarQ15147 (Swissvar)
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 ]   
PhosPhoSitePlusQ15147
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    PIPLC_X_DOMAIN (PS50007)    PIPLC_Y_DOMAIN (PS50008)   
Domains : Interpro (EBI)C2_dom    EF-hand-dom_pair    PH_dom-like    PI-PLC_fam    PLC-beta    PLC-beta_CS    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)    DUF1154 (PF06631)    EF-hand_like (PF09279)    PI-PLC-X (PF00388)    PI-PLC-Y (PF00387)   
Domain families : Pfam (NCBI)pfam00168    pfam06631    pfam09279    pfam00388    pfam00387   
Domain families : Smart (EMBL)C2 (SM00239)  PLCXc (SM00148)  PLCYc (SM00149)  
DMDM Disease mutations5332
Blocks (Seattle)PLCB4
SuperfamilyQ15147
Human Protein AtlasENSG00000101333
Peptide AtlasQ15147
HPRD02885
IPIIPI00014897   IPI00883983   IPI00783004   IPI00827781   IPI00643180   IPI00640067   IPI00646955   IPI00643106   
Protein Interaction databases
DIP (DOE-UCLA)Q15147
IntAct (EBI)Q15147
FunCoupENSG00000101333
BioGRIDPLCB4
STRING (EMBL)PLCB4
ZODIACPLCB4
Ontologies - Pathways
QuickGOQ15147
Ontology : AmiGOphosphatidylinositol phospholipase C activity  phospholipase C activity  signal transducer activity  calcium ion binding  protein binding  nucleus  smooth endoplasmic reticulum  cytosol  postsynaptic density  lipid catabolic process  dendrite  intracellular signal transduction  negative regulation of potassium ion transport  inositol phosphate metabolic process  mitogen-activated protein kinase binding  
Ontology : EGO-EBIphosphatidylinositol phospholipase C activity  phospholipase C activity  signal transducer activity  calcium ion binding  protein binding  nucleus  smooth endoplasmic reticulum  cytosol  postsynaptic density  lipid catabolic process  dendrite  intracellular signal transduction  negative regulation of potassium ion transport  inositol phosphate metabolic process  mitogen-activated protein kinase binding  
Pathways : KEGGInositol phosphate metabolism    Rap1 signaling pathway    Calcium signaling pathway    Chemokine signaling pathway    Phosphatidylinositol signaling system    Adrenergic signaling in cardiomyocytes    Vascular smooth muscle contraction    Wnt signaling pathway    Gap junction    Circadian entrainment    Long-term potentiation    Retrograde endocannabinoid signaling    Glutamatergic synapse    Cholinergic synapse    Serotonergic synapse    Dopaminergic synapse    Long-term depression    Insulin secretion    GnRH signaling pathway    Estrogen signaling pathway    Melanogenesis    Thyroid hormone synthesis    Thyroid hormone signaling pathway    Endocrine and other factor-regulated calcium reabsorption    Salivary secretion    Gastric acid secretion    Pancreatic secretion    Alzheimer's disease    Huntington's disease    Chagas disease (American trypanosomiasis)    African trypanosomiasis    Amoebiasis   
NDEx NetworkPLCB4
Atlas of Cancer Signalling NetworkPLCB4
Wikipedia pathwaysPLCB4
Orthology - Evolution
OrthoDB5332
GeneTree (enSembl)ENSG00000101333
Phylogenetic Trees/Animal Genes : TreeFamPLCB4
Homologs : HomoloGenePLCB4
Homology/Alignments : Family Browser (UCSC)PLCB4
Gene fusions - Rearrangements
Fusion: TCGAPLCB4 20p12.2 BMP2 20p12.3 BRCA
Fusion: TCGASLC24A3 20p11.23 PLCB4 20p12.2 BRCA
Fusion: TCGATNRC6C 17q25.3 PLCB4 20p12.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerPLCB4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PLCB4
dbVarPLCB4
ClinVarPLCB4
1000_GenomesPLCB4 
Exome Variant ServerPLCB4
ExAC (Exome Aggregation Consortium)PLCB4 (select the gene name)
Genetic variants : HAPMAP5332
Genomic Variants (DGV)PLCB4 [DGVbeta]
Mutations
ICGC Data PortalPLCB4 
TCGA Data PortalPLCB4 
Broad Tumor PortalPLCB4
OASIS PortalPLCB4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPLCB4 
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 PLCB4
DgiDB (Drug Gene Interaction Database)PLCB4
DoCM (Curated mutations)PLCB4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PLCB4 (select a term)
intoGenPLCB4
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)20:9288447-9461462  ENSG00000101333
CONAN: Copy Number AnalysisPLCB4 
Mutations and Diseases : HGMDPLCB4
OMIM600810    614669   
MedgenPLCB4
Genetic Testing Registry PLCB4
NextProtQ15147 [Medical]
TSGene5332
GENETestsPLCB4
Huge Navigator PLCB4 [HugePedia]
snp3D : Map Gene to Disease5332
BioCentury BCIQPLCB4
ClinGenPLCB4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5332
Chemical/Pharm GKB GenePA33387
Clinical trialPLCB4
Miscellaneous
canSAR (ICR)PLCB4 (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePLCB4
EVEXPLCB4
GoPubMedPLCB4
iHOPPLCB4
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 : Mon Sep 19 19:07:24 CEST 2016

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