The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript v... See more...

Aliases for PLCB1 Gene

Aliases for PLCB1 Gene

  • Phospholipase C Beta 1 2 3 5
  • PLC-I 2 3 4
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Beta-1 3 4
  • Phospholipase C, Beta 1 (Phosphoinositide-Specific) 2 3
  • Phosphoinositide Phospholipase C 2 3
  • Phospholipase C-I 3 4
  • EC 4 51
  • PLC-Beta-1 3 4
  • KIAA0581 2 4
  • PLC-154 3 4
  • PLC154 2 3
  • 1-Phosphatidyl-D-Myo-Inositol-4,5-Bisphosphate 3
  • Monophosphatidylinositol Phosphodiesterase 3
  • Phosphoinositide Phospholipase C-Beta-1 4
  • Triphosphoinositide Phosphodiesterase 3
  • Inositoltrisphosphohydrolase 3
  • Phospholipase C-Beta-1 4
  • Phosphoinositidase C 3
  • EIEE12 3
  • PI-PLC 3
  • PLCB1A 3
  • PLCB1B 3
  • PLCB1 5

External Ids for PLCB1 Gene

Previous GeneCards Identifiers for PLCB1 Gene

  • GC20P008101
  • GC20P008108

Summaries for PLCB1 Gene

Entrez Gene Summary for PLCB1 Gene

  • The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals. This gene is activated by two G-protein alpha subunits, alpha-q and alpha-11. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PLCB1 Gene

PLCB1 (Phospholipase C Beta 1) is a Protein Coding gene. Diseases associated with PLCB1 include Epileptic Encephalopathy, Early Infantile, 12 and Malignant Migrating Partial Seizures Of Infancy. Among its related pathways are Translation Translation regulation by Alpha-1 adrenergic receptors and Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include calcium ion binding and enzyme binding. An important paralog of this gene is PLCB3.

UniProtKB/Swiss-Prot Summary for PLCB1 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 PLCB1 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 PLCB1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLCB1 Gene

Genomics for PLCB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLCB1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J008131 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.2 +55.2 55150 4.4 HNRNPL GATAD2A CTCF TFE3 RCOR2 PRDM1 RBFOX2 POLR2A RXRB RAD21 lnc-TMX4-4 PLCB1 TMX4 ENSG00000229766 piR-46002-336 PLCB4
GH20J008076 Enhancer 0.8 FANTOM5 Ensembl ENCODE 600.7 -0.5 -529 1.4 POLR2A RAD21 JUND PLCB1 TMX4
GH20J008077 Enhancer 0.5 Ensembl 600.7 +1.0 950 1.2 CREB1 ATF7 SP1 FOXA2 ATF2 NR2F2 RXRA HLF PLCB1 lnc-TMX4-3 PLCB4
GH20J008423 Enhancer 1 FANTOM5 Ensembl ENCODE 10.6 +352.9 352949 14 IKZF2 CEBPA ZBTB44 CEBPB MAFF FOS MAFK NR2F2 ZFHX2 BHLHE40 PLCB1 TMX4 MN309174-382 piR-32810-059 PLCB4
GH20J008144 Enhancer 1.3 Ensembl ENCODE dbSUPER 7.4 +73.6 73550 14.4 CREB1 GATAD2A ATF7 PRDM10 REST TFE3 SOX13 NFKBIZ RCOR2 ZNF7 PLCB1 piR-32023-126 lnc-TMX4-4 PLCB4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLCB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLCB1

Top Transcription factor binding sites by QIAGEN in the PLCB1 gene promoter:
  • CBF(2)
  • CBF-A
  • CBF-B
  • CP1A
  • GATA-1
  • GATA-3
  • NF-Y
  • Pax-5

Genomic Locations for PLCB1 Gene

Genomic Locations for PLCB1 Gene
891,110 bases
Plus strand
836,180 bases
Plus strand

Genomic View for PLCB1 Gene

Genes around PLCB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PLCB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCB1 Gene

Proteins for PLCB1 Gene

  • Protein details for PLCB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-1
    Protein Accession:
    Secondary Accessions:
    • D3DW12
    • D3DW13
    • O60325
    • Q17RQ6
    • Q5TFF7
    • Q5TGC9
    • Q8IV93
    • Q9BQW2
    • Q9H4H2
    • Q9H8H5
    • Q9NQ65
    • Q9NQH9
    • Q9NTH4
    • Q9UJP6
    • Q9UM26

    Protein attributes for PLCB1 Gene

    1216 amino acids
    Molecular mass:
    138567 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with DGKQ.
    • Sequence=BAA25507.3; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=BAB14641.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
    • The receptor-mediated activation of PLC-beta-1 is mediated by two G-protein alpha subunits, alpha-Q and alpha-11.

    Alternative splice isoforms for PLCB1 Gene


neXtProt entry for PLCB1 Gene

Selected DME Specific Peptides for PLCB1 Gene


Post-translational modifications for PLCB1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PLCB1 Gene

Gene Families for PLCB1 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for PLCB1 Gene

Suggested Antigen Peptide Sequences for PLCB1 Gene

GenScript: Design optimal peptide antigens:
  • Phospholipase C, beta 1 (Phosphoinositide-specific) (B1AK73_HUMAN)
  • Phospholipase C-beta-1 (PLCB1_HUMAN)
  • Phospholipase C, beta 1 (Phosphoinositide-specific) (Q8IV91_HUMAN)
  • Phospholipase C, beta 1 (Phosphoinositide-specific) (Q8IV92_HUMAN)
genes like me logo Genes that share domains with PLCB1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLCB1 Gene

Function for PLCB1 Gene

Molecular function for PLCB1 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2-diacyl-sn-glycerol + H(+); Xref=Rhea:RHEA:33179, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:58456, ChEBI:CHEBI:203600; EC=;.
GENATLAS Biochemistry:
phospholipase C,beta 1,phosphatidylinositol specific,involved in signal transduction

Enzyme Numbers (IUBMB) for PLCB1 Gene

Phenotypes From GWAS Catalog for PLCB1 Gene

Gene Ontology (GO) - Molecular Function for PLCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity ISS,NAS 11118617
GO:0004629 phospholipase C activity TAS --
GO:0005096 GTPase activator activity IDA 1322796
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PLCB1: view
genes like me logo Genes that share phenotypes with PLCB1: view

Human Phenotype Ontology for PLCB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLCB1 Gene

MGI Knock Outs for PLCB1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCB1

No data available for Transcription Factor Targets and HOMER Transcription for PLCB1 Gene

Localization for PLCB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PLCB1 Gene

Nucleus membrane. Cytoplasm. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250}.

Subcellular locations from

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 PLCB1 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0005623 cell IEA --
GO:0005634 nucleus IEA,NAS 10760467
GO:0005737 cytoplasm IEA,IDA 11118617
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with PLCB1: view

Pathways & Interactions for PLCB1 Gene

PathCards logo

SuperPathways for PLCB1 Gene

SuperPathway Contained pathways
1 Development Angiotensin activation of ERK
2 Aldosterone synthesis and secretion
3 Sweet Taste Signaling
4 fMLP Pathway
5 Circadian entrainment
genes like me logo Genes that share pathways with PLCB1: view

Pathways by source for PLCB1 Gene

22 GeneGo (Thomson Reuters) pathways for PLCB1 Gene
  • Anandamide biosynthesis and metabolism
  • Cell adhesion Integrin inside-out signaling
  • CFTR-dependent regulation of ion channels in Airway Epithelium (norm and CF)
  • Cytoskeleton remodeling FAK signaling
  • Development A2B receptor- action via G-protein alpha s
55 Qiagen pathways for PLCB1 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
  • Aldosterone Signaling in Epithelial Cells
1 GeneTex pathway for PLCB1 Gene

SIGNOR curated interactions for PLCB1 Gene

Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for PLCB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000086 G2/M transition of mitotic cell cycle ISS --
GO:0006629 lipid metabolic process IEA --
GO:0007165 signal transduction IEA,NAS 11118617
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007213 G protein-coupled acetylcholine receptor signaling pathway ISS --
genes like me logo Genes that share ontologies with PLCB1: view

Drugs & Compounds for PLCB1 Gene

(26) Drugs for PLCB1 Gene - From: PharmGKB, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Calcium Nutra 6556
Selective serotonin reuptake inhibitors Pharma 0
AACOCF3 Pharma Inhibitor of cPLA2/anandamide hydrolysis/FAAH, Phospholipase A2 inhibitor 0

(415) Additional Compounds for PLCB1 Gene - From: HMDB, Novoseek, and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (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
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)

(5) Tocris Compounds for PLCB1 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 PLCB1: view

Transcripts for PLCB1 Gene

mRNA/cDNA for PLCB1 Gene

12 NCBI additional mRNA sequence :
34 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCB1

Alternative Splicing Database (ASD) splice patterns (SP) for PLCB1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^
SP1: -
SP2: -

ExUns: 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b ^ 34 ^ 35 ^ 36
SP1: -
SP2: - -

Relevant External Links for PLCB1 Gene

GeneLoc Exon Structure for

Expression for PLCB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PLCB1 Gene

mRNA differential expression in normal tissues according to GTEx for PLCB1 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x5.7), Brain - Putamen (basal ganglia) (x4.8), Brain - Caudate (basal ganglia) (x4.7), and Brain - Anterior cingulate cortex (BA24) (x4.2).

Protein differential expression in normal tissues from HIPED for PLCB1 Gene

This gene is overexpressed in Frontal cortex (30.2), Brain (20.1), and Fetal Brain (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLCB1 Gene

Protein tissue co-expression partners for PLCB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLCB1

SOURCE GeneReport for Unigene cluster for PLCB1 Gene:


Evidence on tissue expression from TISSUES for PLCB1 Gene

  • Nervous system(4.8)
  • Muscle(2.6)
  • Kidney(2.5)
  • Heart(2.4)
  • Blood(2.3)
  • Eye(2.3)
  • Pancreas(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • face
  • forehead
  • head
  • lip
  • mouth
  • nose
  • pharynx
  • skull
  • chest wall
  • diaphragm
  • esophagus
  • lung
  • rib
  • rib cage
  • abdominal wall
  • intestine
  • large intestine
  • stomach
  • pelvis
  • rectum
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with PLCB1: view

No data available for mRNA Expression by UniProt/SwissProt for PLCB1 Gene

Orthologs for PLCB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLCB1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PLCB1 30 31
  • 99.63 (n)
(Canis familiaris)
Mammalia PLCB1 30 31
  • 93.36 (n)
(Bos Taurus)
Mammalia PLCB1 30 31
  • 91.58 (n)
(Ornithorhynchus anatinus)
Mammalia PLCB1 31
  • 91 (a)
(Monodelphis domestica)
Mammalia PLCB1 31
  • 90 (a)
(Rattus norvegicus)
Mammalia Plcb1 30
  • 89.45 (n)
(Mus musculus)
Mammalia Plcb1 30 17 31
  • 89.14 (n)
(Gallus gallus)
Aves PLCB1 30 31
  • 82.19 (n)
(Anolis carolinensis)
Reptilia PLCB1 31
  • 86 (a)
(Danio rerio)
Actinopterygii PLCB1 (2 of 2) 31
  • 72 (a)
PLCB1 (1 of 2) 31
  • 64 (a)
Fruit Fly
(Drosophila melanogaster)
Insecta Plc21C 30 31
  • 56.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009115 30
  • 52.77 (n)
(Caenorhabditis elegans)
Secernentea Y75B12B.6 32
  • 28 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 46 (a)
Species where no ortholog for PLCB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for PLCB1 Gene

Gene Tree for PLCB1 (if available)
Gene Tree for PLCB1 (if available)
Evolutionary constrained regions (ECRs) for PLCB1: view image

Paralogs for PLCB1 Gene

(9) SIMAP similar genes for PLCB1 Gene using alignment to 5 proteins:

  • B1AK73_HUMAN
  • Q8IV91_HUMAN
  • Q8IV92_HUMAN
genes like me logo Genes that share paralogs with PLCB1: view

Variants for PLCB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLCB1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
646813 Uncertain Significance: Early infantile epileptic encephalopathy 12 8,722,366(+) C/T MISSENSE_VARIANT
647561 Uncertain Significance: Early infantile epileptic encephalopathy 12 8,765,281(+) G/C MISSENSE_VARIANT
648249 Pathogenic: Early infantile epileptic encephalopathy 12 8,724,686(+) G/T NONSENSE
650882 Uncertain Significance: Early infantile epileptic encephalopathy 12 8,765,257(+) C/A MISSENSE_VARIANT
653742 Uncertain Significance: Early infantile epileptic encephalopathy 12 8,774,542(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PLCB1 Gene

Structural Variations from Database of Genomic Variants (DGV) for PLCB1 Gene

Variant ID Type Subtype PubMed ID
dgv240n21 CNV loss 19592680
dgv7457n54 CNV gain 21841781
dgv7458n54 CNV gain 21841781
dgv7459n54 CNV loss 21841781
esv1042376 CNV deletion 17803354
esv1209654 CNV insertion 17803354
esv2295237 CNV deletion 18987734
esv23038 CNV loss 19812545
esv2422203 CNV duplication 17116639
esv2569373 CNV deletion 19546169
esv2623512 CNV deletion 19546169
esv2656531 CNV deletion 23128226
esv2660358 CNV deletion 23128226
esv2665461 CNV deletion 23128226
esv2674984 CNV deletion 23128226
esv2677223 CNV deletion 23128226
esv2722153 CNV deletion 23290073
esv2722154 CNV deletion 23290073
esv2722155 CNV deletion 23290073
esv2722156 CNV deletion 23290073
esv2722157 CNV deletion 23290073
esv2722158 CNV deletion 23290073
esv2722159 CNV deletion 23290073
esv2742905 CNV deletion 23290073
esv2758779 CNV gain 17122850
esv3306355 CNV mobile element insertion 20981092
esv3306376 CNV mobile element insertion 20981092
esv3307215 CNV mobile element insertion 20981092
esv3307398 CNV mobile element insertion 20981092
esv3308099 CNV mobile element insertion 20981092
esv3322682 CNV insertion 20981092
esv3334543 CNV insertion 20981092
esv3352442 CNV insertion 20981092
esv3363440 CNV insertion 20981092
esv3425385 CNV insertion 20981092
esv3429493 CNV insertion 20981092
esv35097 CNV gain 17911159
esv3556804 CNV deletion 23714750
esv3556805 CNV deletion 23714750
esv3556806 CNV deletion 23714750
esv3575357 CNV gain 25503493
esv3575358 CNV gain 25503493
esv3584439 CNV loss 25503493
esv3584440 CNV loss 25503493
esv3645159 CNV gain 21293372
esv3645162 CNV loss 21293372
esv3645163 CNV loss 21293372
esv3645165 CNV gain 21293372
esv3645166 CNV loss 21293372
esv3645168 CNV loss 21293372
esv3645169 CNV loss 21293372
esv3645172 CNV loss 21293372
esv3645177 CNV loss 21293372
esv3645178 CNV loss 21293372
esv3893282 CNV loss 25118596
esv3893283 CNV loss 25118596
esv3893284 CNV gain 25118596
nsv1056621 CNV loss 25217958
nsv1057497 CNV loss 25217958
nsv1058042 CNV loss 25217958
nsv1058716 CNV gain 25217958
nsv1061601 CNV loss 25217958
nsv1067533 CNV loss 25217958
nsv1071321 CNV deletion 25765185
nsv1110936 OTHER inversion 24896259
nsv1118660 CNV duplication 24896259
nsv1123452 CNV deletion 24896259
nsv1124828 CNV duplication 24896259
nsv1131568 CNV deletion 24896259
nsv1142434 CNV deletion 24896259
nsv1142986 CNV tandem duplication 24896259
nsv178902 CNV deletion 16902084
nsv179312 CNV deletion 16902084
nsv179314 CNV insertion 16902084
nsv179322 CNV insertion 16902084
nsv179513 CNV deletion 16902084
nsv179883 CNV deletion 16902084
nsv3280 CNV insertion 18451855
nsv3281 CNV deletion 18451855
nsv3282 CNV deletion 18451855
nsv458863 CNV gain 19166990
nsv473630 CNV novel sequence insertion 20440878
nsv475970 CNV novel sequence insertion 20440878
nsv517649 CNV loss 19592680
nsv517930 CNV loss 19592680
nsv521272 CNV loss 19592680
nsv521502 CNV gain 19592680
nsv524662 CNV loss 19592680
nsv585384 CNV gain 21841781
nsv585392 CNV gain 21841781
nsv585393 CNV gain 21841781
nsv585394 CNV loss 21841781
nsv585396 CNV loss 21841781
nsv585397 CNV loss 21841781
nsv585398 CNV loss 21841781
nsv585404 CNV loss 21841781
nsv819177 CNV loss 19587683
nsv828685 CNV loss 20364138
nsv833916 CNV gain 17160897
nsv954267 CNV deletion 24416366
nsv954283 CNV deletion 24416366
nsv9782 CNV loss 18304495

Variation tolerance for PLCB1 Gene

Residual Variation Intolerance Score: 6.89% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.21; 52.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PLCB1 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCB1 Gene

Disorders for PLCB1 Gene

MalaCards: The human disease database

(16) MalaCards diseases for PLCB1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 12
  • eiee12
malignant migrating partial seizures of infancy
  • epileptic encephalopathy, early infantile, 14
benign epilepsy with centrotemporal spikes
  • centrotemporal epilepsy
west syndrome
  • epileptic encephalopathy, early infantile, 1
  • cholera - vibrio cholerae
- elite association - COSMIC cancer census association via MalaCards
Search PLCB1 in MalaCards View complete list of genes associated with diseases


  • Epileptic encephalopathy, early infantile, 12 (EIEE12) [MIM:613722]: A form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. {ECO:0000269 PubMed:20833646}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PLCB1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PLCB1: view

No data available for Genatlas for PLCB1 Gene

Publications for PLCB1 Gene

  1. Identification and chromosomal localisation by fluorescence in situ hybridisation of human gene of phosphoinositide-specific phospholipase C beta(1). (PMID: 10760467) Peruzzi D … Cocco L (Biochimica et biophysica acta 2000) 2 3 4 23
  2. Cloning and characterization of the human phosphoinositide-specific phospholipase C-beta 1 (PLC beta 1). (PMID: 11118617) Caricasole A … Terstappen GC (Biochimica et biophysica acta 2000) 2 3 4 23
  3. PLC/CAMK IV-NF-kappaB involved in the receptor for advanced glycation end products mediated signaling pathway in human endothelial cells. (PMID: 20171262) You J … Lin JY (Molecular and cellular endocrinology 2010) 3 23
  4. A specific phospholipase C activity regulates phosphatidylinositol levels in lung surfactant of patients with acute respiratory distress syndrome. (PMID: 19491339) Spyridakis S … Galanopoulou D (American journal of respiratory cell and molecular biology 2010) 3 23
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

Products for PLCB1 Gene