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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 56
  • 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, Type I. 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 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

GeneHancer (GH) Regulatory Elements for PLCB3 Gene

Promoters and enhancers for PLCB3 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
GH11I064237 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.4 -6.2 -6204 16.6 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 E2F8 ZNF143 SP3 NFYC PPP1R14B FKBP2 LOC105369340 PLCB3 TRPT1 LOC102723878 VEGFB TRMT112 FERMT3 GPR137
GH11I064331 Enhancer 1.5 Ensembl ENCODE dbSUPER 39.1 +80.4 80370 1.7 HDGF PKNOX1 SMAD1 ARNT ARID4B SIN3A YBX1 IRF4 POLR2B ZNF207 GC11P064330 GC11P064331 POLA2 SF1 PLCB3 ZFPL1 ENSG00000257086 FAU ATG2A ZNHIT2
GH11I064267 Promoter/Enhancer 1.8 Ensembl ENCODE dbSUPER 27.5 +19.2 19177 7.2 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 MCM3 SP3 NFYC GPR137 ZFPL1 SF1 POLA2 PLCB3 TRMT112 DNAJC4 ENSG00000257086 FAU LOC102723878
GH11I064205 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 22.5 -43.9 -43928 4.4 HDGF PKNOX1 ATF1 SMAD1 ARNT YY1 TCF12 POLR2B ZNF766 ZNF143 FERMT3 TRPT1 ZFPL1 PLCB3 SF1 TRMT112 ENSG00000257086 GPR137 BAD KCNK4-TEX40
GH11I064841 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 20.5 +592.2 592172 4.3 HDGF PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A ZNF2 ZBTB7B ZNF143 CDC42BPG SF1 POLA2 ZFPL1 PLCB3 PCNX3 ENSG00000257086 KAT5 EHD1 MEN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PLCB3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PLCB3 gene promoter:

Genomic Locations for PLCB3 Gene

Genomic Locations for PLCB3 Gene
chr11:64,251,523-64,269,452
(GRCh38/hg38)
Size:
17,930 bases
Orientation:
Plus strand
chr11:64,018,995-64,036,924
(GRCh37/hg19)

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

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 21822282
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:

Clone Products

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:0007186 G-protein coupled receptor signaling pathway TAS --
GO:0007223 Wnt signaling pathway, calcium modulating pathway TAS --
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
calcium Approved Nutra 0
Water Approved Pharma 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-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 PLCB3 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 PLCB3: view

Transcripts for PLCB3 Gene

Unigene Clusters for PLCB3 Gene

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

Clone Products

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

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 Variation AA Info Type
rs1000087390 -- 64,252,073(+) G/A intron_variant
rs1000208240 -- 64,255,888(+) A/G intron_variant
rs1000250866 -- 64,264,482(+) C/G genic_downstream_transcript_variant, intron_variant
rs1000288474 -- 64,267,667(+) A/T 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs1000390230 -- 64,250,016(+) G/A upstream_transcript_variant

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)

Additional Variant Information 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