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Aliases for PLCB3 Gene

Aliases for PLCB3 Gene

  • Phospholipase C Beta 3 2 3 5
  • EC 3.1.4.11 4 58
  • Phospholipase C, Beta 3 (Phosphatidylinositol-Specific) 2
  • Phosphoinositide Phospholipase C-Beta-3 4
  • Phospholipase C-Beta-3 4
  • PLC-Beta-3 4

External Ids for PLCB3 Gene

Previous GeneCards Identifiers for PLCB3 Gene

  • GC11P066534
  • GC11P065700
  • GC11P064269
  • GC11P063794
  • GC11P063775
  • GC11P064019
  • GC11P060321

Summaries for PLCB3 Gene

Entrez Gene Summary for PLCB3 Gene

  • This gene encodes a member of the phosphoinositide phospholipase C beta enzyme family that catalyze the production of the secondary messengers diacylglycerol and inositol 1,4,5-triphosphate from phosphatidylinositol in G-protein-linked receptor-mediated signal transduction. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

GeneCards Summary for PLCB3 Gene

PLCB3 (Phospholipase C Beta 3) is a Protein Coding gene. Diseases associated with PLCB3 include Multiple Endocrine Neoplasia 1. Among its related pathways are Calcium signaling pathway and Long-term potentiation. GO annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is PLCB1.

UniProtKB/Swiss-Prot for PLCB3 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 PLCB3 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 PLCB3 Gene

Additional gene information for PLCB3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCB3 Gene

Genomics for PLCB3 Gene

Regulatory Elements for PLCB3 Gene

Enhancers for PLCB3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H064331 1.6 Ensembl ENCODE dbSUPER 39.1 +80.4 80370 1 HDGF PKNOX1 ARNT ARID4B SIN3A YBX1 ZNF207 ZNF143 FOS MCM3 SF1 POLA2 PLCB3 ZFPL1 ENSG00000257086 FAU ATG2A ZNHIT2 NAALADL1 IMMP1LP1
GH11H064267 1.4 ENCODE dbSUPER 39.1 +19.2 19177 7 DMAP1 YY1 SLC30A9 ZNF143 SP3 MCM3 NFYC MEF2D SSRP1 ZNF585B ZFPL1 SF1 POLA2 PLCB3 ENSG00000257086 TRMT112 DNAJC4 FAU LOC102723878 TRPT1
GH11H064354 1.9 FANTOM5 Ensembl ENCODE dbSUPER 25.2 +106.5 106452 6 HDGF PKNOX1 MLX ARNT ARID4B SIN3A ZBTB7B YY1 ZNF207 ZNF143 PLCB3 LOC102723878 SF1 ZFPL1 ENSG00000257086 POLA2 SYVN1 VPS51 ATG2A MEN1
GH11H064320 1.2 Ensembl ENCODE dbSUPER 28.3 +71.6 71597 5 MTA2 ZBTB2 NFXL1 ZIC2 ZKSCAN1 POLR2A EGR1 GLIS1 TARDBP PRDM1 PLCB3 LOC102723878 CATSPERZ ENSG00000207024 KCNK4 KCNK4-TEX40 BAD GPR137 ENSG00000257086 TRMT112
GH11H064405 1 Ensembl ENCODE 29.3 +155.4 155405 2 ZSCAN4 TSC22D4 MAX YBX1 CDC5L ZKSCAN1 ZFHX2 MTA3 POLR2A ZNF207 PLCB3 SF1 POLA2 ZFPL1 FAU NAALADL1 RPS6KA4 ENSG00000231680 VPS51 ATL3
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLCB3 on UCSC Golden Path with GeneCards custom track

Promoters for PLCB3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000040639 377 1801 HDGF SIN3A GLIS2 ZNF143 SP3 MBD2 SMARCA4 GLIS1 WT1 CTCF

Genomic Location for PLCB3 Gene

Chromosome:
11
Start:
64,251,523 bp from pter
End:
64,269,452 bp from pter
Size:
17,930 bases
Orientation:
Plus strand

Genomic View for PLCB3 Gene

Genes around PLCB3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCB3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCB3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCB3 Gene

Proteins for PLCB3 Gene

  • Protein details for PLCB3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01970-PLCB3_HUMAN
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-3
    Protein Accession:
    Q01970
    Secondary Accessions:
    • A5PKZ6
    • G5E960
    • Q8N1A4

    Protein attributes for PLCB3 Gene

    Size:
    1234 amino acids
    Molecular mass:
    138799 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with SHANK2 (By similarity). Interacts with LPAR2.
    SequenceCaution:
    • Sequence=AAH32659.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PLCB3 Gene

    Alternative splice isoforms for PLCB3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PLCB3 Gene

Selected DME Specific Peptides for PLCB3 Gene

Q01970:
  • KRVETAL
  • GCRCVELD
  • YVEVDMFGLPVDTRRK
  • FEMSSFVETK
  • KVVLPTLA
  • GHRILPV
  • EQLTKSP
  • RVDSSNY
  • EFMRRPDK
  • KAYTKLKLQV
  • IVDGIVAN
  • SSVEMYRQ
  • ITHGFTMTT
  • RIYPKGTR
  • QQAKMAEYCR
  • EFVEYNK
  • QLSRIYP
  • LKPEFMRR
  • ISGQFLS
  • SSHNTYL
  • VALNFQT
  • LSFENHVDS
  • DVLEAIAE
  • DSSNYMPQ

Post-translational modifications for PLCB3 Gene

  • Ubiquitination at posLast=804804
  • Modification sites at PhosphoSitePlus

Other Protein References for PLCB3 Gene

Domains & Families for PLCB3 Gene

Gene Families for PLCB3 Gene

Suggested Antigen Peptide Sequences for PLCB3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with PLCB3: view

No data available for UniProtKB/Swiss-Prot for PLCB3 Gene

Function for PLCB3 Gene

Molecular function for PLCB3 Gene

GENATLAS Biochemistry:
phospholipase C,beta 3,phosphatidyl inositol specific,involved in signal transduction,excluded as a candidate in the tumorigenesis of endocrine tumor (see MEN1)
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 PLCB3 Gene

Phenotypes From GWAS Catalog for PLCB3 Gene

Gene Ontology (GO) - Molecular Function for PLCB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity TAS --
GO:0004629 phospholipase C activity TAS --
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 15782111
genes like me logo Genes that share ontologies with PLCB3: view
genes like me logo Genes that share phenotypes with PLCB3: view

Animal Models for PLCB3 Gene

MGI Knock Outs for PLCB3:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLCB3

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLCB3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PLCB3 Gene

Localization for PLCB3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCB3 Gene

Membrane; Peripheral membrane protein.

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 PLCB3 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PLCB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
GO:0043234 protein complex IDA 18468998
genes like me logo Genes that share ontologies with PLCB3: view

Pathways & Interactions for PLCB3 Gene

genes like me logo Genes that share pathways with PLCB3: view

Pathways by source for PLCB3 Gene

SIGNOR curated interactions for PLCB3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PLCB3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003073 regulation of systemic arterial blood pressure IDA 18468998
GO:0006629 lipid metabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
GO:0007268 chemical synaptic transmission IEA --
genes like me logo Genes that share ontologies with PLCB3: view

Drugs & Compounds for PLCB3 Gene

(5) Drugs for PLCB3 Gene - From: HMDB and Novoseek

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

(391) Additional Compounds for PLCB3 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
  • 1,2-Dimyristoyl-rac-glycerol
  • DAG(14:0/14:0)
  • DAG(28:0)
  • DG(14:0/14:0)
  • DG(28:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonyl-sn-glycerol
  • DAG(16:1/20:0)
  • DAG(16:1n7/20:0)
  • DAG(16:1w7/20:0)
  • DAG(36:1)
Diglycerides Group C
  • 1-Myristoyl-3-behenoyl-sn-glycerol
  • 1-Tetradecanoyl-3-docosanoyl-sn-glycerol
  • DAG(14:0/0:0/22:0)
  • DAG(36:0)
  • DG(36:0)
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)

(2) Tocris Compounds for PLCB3 Gene

Compound Action Cas Number
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 PLCB3: view

Transcripts for PLCB3 Gene

Unigene Clusters for PLCB3 Gene

Phospholipase C, beta 3 (phosphatidylinositol-specific):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for PLCB3
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for PLCB3 Gene

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

ExUns: 17a · 17b ^ 18a · 18b ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for PLCB3 Gene

GeneLoc Exon Structure for
PLCB3
ECgene alternative splicing isoforms for
PLCB3

Expression for PLCB3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PLCB3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLCB3 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x4.4).

Protein differential expression in normal tissues from HIPED for PLCB3 Gene

This gene is overexpressed in Fetal gut (14.1) and Stomach (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PLCB3 Gene



Protein tissue co-expression partners for PLCB3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PLCB3 Gene:

PLCB3

SOURCE GeneReport for Unigene cluster for PLCB3 Gene:

Hs.523761

Evidence on tissue expression from TISSUES for PLCB3 Gene

  • Liver(4.2)
  • Nervous system(2.3)
genes like me logo Genes that share expression patterns with PLCB3: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCB3 Gene

Orthologs for PLCB3 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLCB3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PLCB3 33 34
  • 99.32 (n)
cow
(Bos Taurus)
Mammalia PLCB3 33 34
  • 89.59 (n)
dog
(Canis familiaris)
Mammalia PLCB3 33 34
  • 89.24 (n)
rat
(Rattus norvegicus)
Mammalia Plcb3 33
  • 87.03 (n)
mouse
(Mus musculus)
Mammalia Plcb3 33 16 34
  • 86.81 (n)
oppossum
(Monodelphis domestica)
Mammalia PLCB3 34
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PLCB3 34
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PLCB3 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia plcb3 33
  • 64.92 (n)
Str.18841 33
African clawed frog
(Xenopus laevis)
Amphibia PLC1 33
zebrafish
(Danio rerio)
Actinopterygii plcb3 33 34
  • 62.49 (n)
fruit fly
(Drosophila melanogaster)
Insecta Plc21C 35 34
  • 47 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 46 (a)
OneToMany
Species where no ortholog for PLCB3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PLCB3 Gene

ENSEMBL:
Gene Tree for PLCB3 (if available)
TreeFam:
Gene Tree for PLCB3 (if available)

Paralogs for PLCB3 Gene

Paralogs for PLCB3 Gene

(3) SIMAP similar genes for PLCB3 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with PLCB3: view

Variants for PLCB3 Gene

Sequence variations from dbSNP and Humsavar for PLCB3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs1000087390 -- 64,252,073(+) GCCTG(A/G)TGCCC intron-variant
rs1000208240 -- 64,255,888(+) CCTCT(A/G)GCTCA intron-variant
rs1000250866 -- 64,264,482(+) TCCCC(C/G)CAGGG intron-variant
rs1000288474 -- 64,267,667(+) ATTTT(A/T)TTTTT intron-variant, utr-variant-3-prime
rs1000390230 -- 64,250,016(+) TTCCA(A/G)CTACT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PLCB3 Gene

Variant ID Type Subtype PubMed ID
dgv1963n54 CNV loss 21841781
nsv1070965 CNV deletion 25765185
nsv1159904 CNV deletion 26073780
nsv469961 CNV loss 18288195
nsv555184 CNV loss 21841781
nsv555187 CNV loss 21841781
nsv832186 CNV loss 17160897
nsv951010 CNV deletion 24416366

Variation tolerance for PLCB3 Gene

Residual Variation Intolerance Score: 6.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.30; 76.54% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLCB3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PLCB3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCB3 Gene

Disorders for PLCB3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PLCB3 Gene - From: DISEASES and Novoseek

Disorder Aliases PubMed IDs
multiple endocrine neoplasia 1
  • multiple endocrine neoplasia type 1
- elite association - COSMIC cancer census association via MalaCards
Search PLCB3 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PLCB3

Genetic Association Database (GAD)
PLCB3
Human Genome Epidemiology (HuGE) Navigator
PLCB3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PLCB3
genes like me logo Genes that share disorders with PLCB3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PLCB3 Gene

Publications for PLCB3 Gene

  1. NHERF2 specifically interacts with LPA2 receptor and defines the specificity and efficiency of receptor-mediated phospholipase C-beta3 activation. (PMID: 15143197) Oh YS … Suh PG (Molecular and cellular biology 2004) 3 4 22 60
  2. Structural organization and expression of the human phosphatidylinositol-specific phospholipase C beta-3 gene. (PMID: 7612006) Mazuruk K … Rodriguez IR (Biochemical and biophysical research communications 1995) 3 4 22 60
  3. Genomic organization and complete cDNA sequence of the human phosphoinositide-specific phospholipase C beta 3 gene (PLCB3). (PMID: 7607669) Lagercrantz J … Weber G (Genomics 1995) 3 4 22 60
  4. The phospholipase C beta 3 gene located in the MEN1 region shows loss of expression in endocrine tumours. (PMID: 7849701) Weber G … Teh BT (Human molecular genetics 1994) 2 3 22 60
  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 45 60

Products for PLCB3 Gene

Sources for PLCB3 Gene