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Aliases for PLCB2 Gene

Aliases for PLCB2 Gene

  • Phospholipase C Beta 2 2 3 5
  • Phosphoinositide Phospholipase C-Beta-2 3 4
  • EC 3.1.4.11 4 56
  • PLC-Beta-2 3 4
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Beta-2 3
  • Phospholipase C, Beta 2 2
  • Phospholipase C-Beta-2 4

External Ids for PLCB2 Gene

Previous GeneCards Identifiers for PLCB2 Gene

  • GC15M035947
  • GC15M033475
  • GC15M038159
  • GC15M038296
  • GC15M038367
  • GC15M040580
  • GC15M017423

Summaries for PLCB2 Gene

Entrez Gene Summary for PLCB2 Gene

  • The protein encoded by this gene is a phosphodiesterase that catalyzes the hydrolysis of phosphatidylinositol 4,5-bisphosphate to the second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol. The encoded protein is activated by G proteins and has been shown to be involved in the type 2 taste receptor signal transduction pathway. In addition, nuclear factor kappa B can regulate the transcription of this gene, whose protein product is also an important regulator of platelet responses. [provided by RefSeq, Jan 2017]

GeneCards Summary for PLCB2 Gene

PLCB2 (Phospholipase C Beta 2) is a Protein Coding gene. Diseases associated with PLCB2 include Prostate Leiomyosarcoma and Narcolepsy. Among its related pathways are Presynaptic function of Kainate receptors and Salivary secretion. Gene Ontology (GO) annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCB1.

UniProtKB/Swiss-Prot for PLCB2 Gene

  • 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.

Tocris Summary for PLCB2 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

Gene Wiki entry for PLCB2 Gene

Additional gene information for PLCB2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCB2 Gene

Genomics for PLCB2 Gene

GeneHancer (GH) Regulatory Elements for PLCB2 Gene

Promoters and enhancers for PLCB2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15I040306 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE 577.4 0.0 -49 3.9 FOXA2 ZNF335 RUNX3 ZBTB11 CEBPB ELF1 ZNF148 SMARCA4 MYNN GLIS1 PLCB2 CCDC32 BAHD1 BMF ENSG00000259198
GH15I040090 Promoter/Enhancer 3.3 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 14.5 +207.6 207615 18.8 CLOCK MLX ZFP64 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 BMF ENSG00000259211 DNAJC17 RAD51-AS1 BAHD1 CHST14 EIF2AK4 SRP14-AS1 ENSG00000259536 PLCB2
GH15I040435 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 10.5 -131.0 -131043 7.8 PKNOX1 ARID4B SIN3A FEZF1 ZNF48 POLR2B GLIS2 FOS SP3 SP5 BAHD1 KNSTRN DISP2 IVD CCDC32 CHST14 RPL9P27 PHGR1 CCDC9B RNA5SP392
GH15I040044 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.4 +257.6 257557 12.1 HDGF PKNOX1 FOXA2 SMAD1 ARID4B SIN3A IRF4 YY1 CBX5 ZNF207 BMF DNAJC17 ENSG00000259211 PLCB2 EIF2AK4 SRP14 RAD51-AS1 CHST14 PAK6 ANKRD63
GH15I040326 Promoter/Enhancer 2 EPDnew Ensembl ENCODE dbSUPER 11.5 -33.1 -33091 28.7 PKNOX1 FOXA2 ZFP64 ARID4B SIN3A FEZF1 DMAP1 SLC30A9 ZNF766 CBX5 CCDC9B PHGR1 KNSTRN DISP2 IVD ANKRD63 RPLP0P10 PLCB2 C15orf56 PAK6
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLCB2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLCB2 gene promoter:

Genomic Locations for PLCB2 Gene

Genomic Locations for PLCB2 Gene
chr15:40,278,176-40,307,973
(GRCh38/hg38)
Size:
29,798 bases
Orientation:
Minus strand
chr15:40,570,377-40,600,174
(GRCh37/hg19)

Genomic View for PLCB2 Gene

Genes around PLCB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCB2 Gene

Proteins for PLCB2 Gene

  • Protein details for PLCB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00722-PLCB2_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2
    Protein Accession:
    Q00722
    Secondary Accessions:
    • A8K6J2
    • B9EGH5

    Protein attributes for PLCB2 Gene

    Size:
    1185 amino acids
    Molecular mass:
    134024 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with RAC1 (PubMed:1644792). Forms a complex composed of at least WDR26, a G-beta:gamma unit, and PLCB2 (PubMed:23625927).
    Miscellaneous:
    • The receptor-mediated activation of PLC-beta-2 is most effectively mediated by one G-protein alpha subunit, alpha-16.

    Three dimensional structures from OCA and Proteopedia for PLCB2 Gene

    Alternative splice isoforms for PLCB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCB2 Gene

Selected DME Specific Peptides for PLCB2 Gene

Q00722:
  • GCRCVELD
  • PLNHYFI
  • LCPRPEID
  • EFMRRPDK
  • ITHGFTMTT
  • RIYPKGTR
  • QQAKMAEYCR
  • ISGQFLS
  • SSHNTYL
  • VALNFQT
  • LSFENHVDS
  • DSSNYMPQ
  • EAIAESAFKTS
  • YNKRQMSR

Post-translational modifications for PLCB2 Gene

  • Ubiquitination at isoforms=2, 3761

Domains & Families for PLCB2 Gene

Gene Families for PLCB2 Gene

Suggested Antigen Peptide Sequences for PLCB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PLCB2: view

No data available for UniProtKB/Swiss-Prot for PLCB2 Gene

Function for PLCB2 Gene

Molecular function for PLCB2 Gene

GENATLAS Biochemistry:
phospholipase C,beta 2,predominantly expressed in hematopoietic cells,critical to many chemoattractant elicited responses,involved in signal transduction
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1D-myo-inositol 1,4,5-trisphosphate + diacylglycerol.
UniProtKB/Swiss-Prot 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.

Enzyme Numbers (IUBMB) for PLCB2 Gene

Phenotypes From GWAS Catalog for PLCB2 Gene

Gene Ontology (GO) - Molecular Function for PLCB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS --
GO:0004629 phospholipase C activity TAS,IEA --
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0008081 phosphoric diester hydrolase activity IEA --
genes like me logo Genes that share ontologies with PLCB2: view
genes like me logo Genes that share phenotypes with PLCB2: view

Animal Models for PLCB2 Gene

MGI Knock Outs for PLCB2:

miRNA for PLCB2 Gene

miRTarBase miRNAs that target PLCB2

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLCB2 Gene

Localization for PLCB2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PLCB2 gene
Compartment Confidence
cytosol 5
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLCB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PLCB2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLCB2 Gene

Pathways & Interactions for PLCB2 Gene

genes like me logo Genes that share pathways with PLCB2: view

SIGNOR curated interactions for PLCB2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PLCB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006644 phospholipid metabolic process TAS 1644792
GO:0007165 signal transduction IEA --
GO:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007202 activation of phospholipase C activity TAS 7649993
genes like me logo Genes that share ontologies with PLCB2: view

Drugs & Compounds for PLCB2 Gene

(3) Drugs for PLCB2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Water Approved Pharma 0

(393) Additional Compounds for PLCB2 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Diglycerides Group A
  • 1-Myristoyl-2-pentadecanoyl-sn-glycerol
  • DAG(14:0/15:0)
  • DAG(29:0)
  • DG(14:0/15:0)
  • DG(29:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonoyl-sn-glycerol
  • DAG(16:1/20:4)
  • DAG(16:1n7/20:4n6)
  • DAG(16:1w7/20:4w6)
  • DAG(36:5)
Diglycerides Group C
  • 1-Pentadecanoyl-3-behenoyl-sn-glycerol
  • 1-Pentadecanoyl-3-docosanoyl-sn-glycerol
  • DAG(15:0/0:0/22:0)
  • DAG(37:0)
  • DG(37:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)

(5) Tocris Compounds for PLCB2 Gene

Compound Action Cas Number
AACOCF3 Phospholipase A2 inhibitor 149301-79-1
Edelfosine Selective PI-PLC inhibitor, also PAF receptor agonist 77286-66-9
m-3M3FBS Phospholipase C activator 200933-14-8
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
U 73122 Phospholipase C inhibitor 112648-68-7
genes like me logo Genes that share compounds with PLCB2: view

Transcripts for PLCB2 Gene

Unigene Clusters for PLCB2 Gene

Phospholipase C, beta 2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLCB2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17 ^ 18a · 18b ^ 19a · 19b ^
SP1: - - - - - - -
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

ExUns: 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c · 25d ^ 26a · 26b · 26c ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32a · 32b
SP1: - - - - - - - - - - - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: - - - - -
SP8: -
SP9:
SP10:
SP11:
SP12: - - -
SP13: - - -
SP14:
SP15:

Relevant External Links for PLCB2 Gene

GeneLoc Exon Structure for
PLCB2
ECgene alternative splicing isoforms for
PLCB2

Expression for PLCB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLCB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLCB2 Gene

This gene is overexpressed in Whole Blood (x16.9) and Spleen (x6.9).

Protein differential expression in normal tissues from HIPED for PLCB2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (33.7) and Spleen (12.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLCB2 Gene



Protein tissue co-expression partners for PLCB2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLCB2 Gene:

PLCB2

SOURCE GeneReport for Unigene cluster for PLCB2 Gene:

Hs.355888

Evidence on tissue expression from TISSUES for PLCB2 Gene

  • Liver(4.1)
  • Nervous system(3.2)
  • Blood(2.7)
  • Intestine(2)
  • Lung(2)
genes like me logo Genes that share expression patterns with PLCB2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCB2 Gene

Orthologs for PLCB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLCB2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLCB2 33 34
  • 99.57 (n)
dog
(Canis familiaris)
Mammalia PLCB2 33 34
  • 89.8 (n)
cow
(Bos Taurus)
Mammalia PLCB2 33 34
  • 89.3 (n)
mouse
(Mus musculus)
Mammalia Plcb2 33 16 34
  • 85.57 (n)
rat
(Rattus norvegicus)
Mammalia Plcb2 33
  • 85.25 (n)
oppossum
(Monodelphis domestica)
Mammalia PLCB2 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PLCB2 33 34
  • 72.14 (n)
lizard
(Anolis carolinensis)
Reptilia PLCB2 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plcb2 33
  • 68.16 (n)
zebrafish
(Danio rerio)
Actinopterygii PLCB2 34
  • 45 (a)
OneToOne
Dr.11385 33
fruit fly
(Drosophila melanogaster)
Insecta Plc21C 34
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y75B12B.6 35
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
Species where no ortholog for PLCB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PLCB2 Gene

ENSEMBL:
Gene Tree for PLCB2 (if available)
TreeFam:
Gene Tree for PLCB2 (if available)

Paralogs for PLCB2 Gene

Paralogs for PLCB2 Gene

(8) SIMAP similar genes for PLCB2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PLCB2: view

Variants for PLCB2 Gene

Sequence variations from dbSNP and Humsavar for PLCB2 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs769251460 likely-benign, Oromandibular-limb hypogenesis spectrum 40,298,224(-) T/C coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs779256250 likely-benign, Oromandibular-limb hypogenesis spectrum 40,291,866(-) G/A/T coding_sequence_variant, genic_downstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1000187040 -- 40,287,858(-) C/A downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant
rs1000208258 -- 40,292,853(-) C/T genic_downstream_transcript_variant, intron_variant
rs1000221627 -- 40,285,926(-) A/G 3_prime_UTR_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for PLCB2 Gene

Variant ID Type Subtype PubMed ID
nsv827305 CNV gain 20364138
nsv569227 CNV loss 21841781
nsv517541 CNV loss 19592680
nsv510660 CNV deletion 20534489
nsv471240 CNV loss 18288195
nsv457118 CNV loss 19166990
esv34145 CNV loss 18971310
esv22666 CNV loss 19812545

Variation tolerance for PLCB2 Gene

Residual Variation Intolerance Score: 64.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.04; 80.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLCB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCB2 Gene

Disorders for PLCB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PLCB2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
prostate leiomyosarcoma
  • leiomyosarcoma of the prostate
narcolepsy
  • narcolepsy, without cataplexy
- elite association - COSMIC cancer census association via MalaCards
Search PLCB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PLCB2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PLCB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLCB2 Gene

Publications for PLCB2 Gene

  1. Association analysis of two candidate phospholipase genes that map to the chromosome 15q15.1-15.3 region associated with reading disability. (PMID: 15274049) Morris DW … O'Donovan MC (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004) 3 22 44 58
  2. Cloning, sequencing, expression, and Gq-independent activation of phospholipase C-beta 2. (PMID: 1644792) Park D … Rhee SG (The Journal of biological chemistry 1992) 2 3 4 58
  3. WDR26 functions as a scaffolding protein to promote Gβγ-mediated phospholipase C β2 (PLCβ2) activation in leukocytes. (PMID: 23625927) Sun Z … Chen S (The Journal of biological chemistry 2013) 3 4 58
  4. Genome-wide association study identifies five new schizophrenia loci. (PMID: 21926974) Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium (Nature genetics 2011) 3 44 58
  5. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PMID: 20056178) Segat L … Crovella S (Vaccine 2010) 3 44 58

Products for PLCB2 Gene