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Aliases for PLCB4 Gene

Aliases for PLCB4 Gene

  • Phospholipase C, Beta 4 2 3
  • Phosphoinositide Phospholipase C-Beta-4 3 4
  • EC 4 63
  • PLC-Beta-4 3 4
  • ARCND2 3 6
  • DJ1119D9.2 (Phopholipase C, Beta 4 (1-Phosphatidylinositol-4,5-Bisphosphate Phosphodiesterase Beta 4)) 3
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Beta-4 3
  • 1-Phosphatidyl-D-Myo-Inositol-4,5-Bisphosphate 3
  • Monophosphatidylinositol Phosphodiesterase 3
  • Triphosphoinositide Phosphodiesterase 3
  • Inositoltrisphosphohydrolase 3
  • Phospholipase C-Beta-4 4
  • Phosphoinositidase C 3
  • PI-PLC 3

External Ids for PLCB4 Gene

Previous GeneCards Identifiers for PLCB4 Gene

  • GC20P009276
  • GC20P009071

Summaries for PLCB4 Gene

Entrez Gene Summary for PLCB4 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 in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]

GeneCards Summary for PLCB4 Gene

PLCB4 (Phospholipase C, Beta 4) is a Protein Coding gene. Diseases associated with PLCB4 include auriculocondylar syndrome 2 and auriculo-condylar syndrome. Among its related pathways are GPCR Pathway and Ras signaling pathway. GO annotations related to this gene include calcium ion binding and phosphatidylinositol phospholipase C activity. An important paralog of this gene is PLCH1.

UniProtKB/Swiss-Prot for PLCB4 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. This form has a role in retina signal transduction

Tocris Summary for PLCB4 Gene

  • Phospholipases are a group of enzymes that hydrolyze phospholipids into fatty acids and other lipophilic molecules. PLC is subdivided into beta, gamma, delta, epsilon, zeta and eta subtypes, which catalyze the hydrolysis of phosphatidylinositol 4,5-bisphosphate (PIP2) to inositol 1,4,5-trisphosphate (IP3) and 1,2-diacylglycerol (DAG). IP3 and DAG both have important second messenger functions. PLC-beta is primarily activated by Gq/11 proteins and PLC-gamma is activated by phosphorylation in response to a variety of growth factor and immune system signals. Phospholipases are ubiquitously expressed and have diverse biological functions including roles in inflammation, cell growth, signaling and death and maintenance of membrane phospholipids.

Gene Wiki entry for PLCB4 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PLCB4 Gene

Genomics for PLCB4 Gene

Regulatory Elements for PLCB4 Gene

Genomic Location for PLCB4 Gene

9,068,710 bp from pter
9,481,242 bp from pter
412,533 bases
Plus strand

Genomic View for PLCB4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PLCB4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PLCB4 Gene

Proteins for PLCB4 Gene

  • Protein details for PLCB4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
    Protein Accession:
    Secondary Accessions:
    • B7ZLK6
    • E2QRH8
    • Q17R56
    • Q5JYS8
    • Q5JYS9
    • Q5JYT0
    • Q5JYT3
    • Q5JYT4
    • Q9BQW5
    • Q9BQW6
    • Q9BQW8
    • Q9UJQ2

    Protein attributes for PLCB4 Gene

    1175 amino acids
    Molecular mass:
    134464 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PLCB4 Gene


neXtProt entry for PLCB4 Gene

Proteomics data for PLCB4 Gene at MOPED

Post-translational modifications for PLCB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

Domains for PLCB4 Gene

Gene Families for PLCB4 Gene

Suggested Antigen Peptide Sequences for PLCB4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 1 C2 domain.
  • Contains 1 C2 domain.
  • Contains 1 PI-PLC X-box domain.
  • Contains 1 PI-PLC Y-box domain.
genes like me logo Genes that share domains with PLCB4: view

Function for PLCB4 Gene

Molecular function for PLCB4 Gene

GENATLAS Biochemistry:
phospholipase C,beta 4,phosphoinositide specific,retinal,expressedin the cerebellum and with three isoforms with specific expressions in the rat
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. This form has a role in retina signal transduction

Enzyme Numbers (IUBMB) for PLCB4 Gene

Gene Ontology (GO) - Molecular Function for PLCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004435 phosphatidylinositol phospholipase C activity IEA --
GO:0004629 phospholipase C activity TAS 8530101
GO:0004871 signal transducer activity IEA --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with PLCB4: view
genes like me logo Genes that share phenotypes with PLCB4: view

Animal Models for PLCB4 Gene

MGI Knock Outs for PLCB4:

Animal Model Products

miRNA for PLCB4 Gene

miRTarBase miRNAs that target PLCB4

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PLCB4

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PLCB4 Gene

Localization for PLCB4 Gene

Subcellular locations from

Jensen Localization Image for PLCB4 Gene COMPARTMENTS Subcellular localization image for PLCB4 gene
Compartment Confidence
cytosol 4
cytoskeleton 2
endoplasmic reticulum 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PLCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005790 smooth endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
GO:0014069 postsynaptic density IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with PLCB4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PLCB4 Gene

Pathways for PLCB4 Gene

genes like me logo Genes that share pathways with PLCB4: view

Interacting Proteins for PLCB4 Gene

Selected Interacting proteins: Q15147-PLCB4_HUMAN for PLCB4 Gene via UniProtKB I2D

Gene Ontology (GO) - Biological Process for PLCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process --
GO:0007165 signal transduction --
GO:0016042 lipid catabolic process IEA --
GO:0035556 intracellular signal transduction IEA --
GO:0043647 inositol phosphate metabolic process TAS --
genes like me logo Genes that share ontologies with PLCB4: view

Drugs for PLCB4 Gene

(5) Tocris Compounds for PLCB4 Gene

Compound Action Cas Number
D609 Selective PC-PLC inhibitor [83373-60-8]
m-3M3FBS Phospholipase C activator [200933-14-8]
U 73343 Inactive analog of U 73122 (Cat. No. 1268) [142878-12-4]
VU 0155069 Potent and selective PLD1 inhibitor [1130067-06-9]
VU 0364739 hydrochloride Potent and selective PLD2 inhibitor [1244640-48-9]

(1661) HMDB Compounds for PLCB4 Gene

Compound Synonyms Cas Number PubMed IDs
  • (3-Phosphatidyl)-1-D-inositol
  • Ca
  • 1-Myristoyl-3-myristoyl-sn-glycerol
  • 1-Myristoyl-3-myristoleoyl-sn-glycerol
  • 1-Myristoyl-3-pentadecanoyl-sn-glycerol

(53) Novoseek inferred chemical compound relationships for PLCB4 Gene

Compound -log(P) Hits PubMed IDs
inositol 1,2-cyclic phosphate 85.3 2
lysosulfatide 77.6 2
phosphatidylinositol 77.1 75
phenyl agarose 67.3 1
inositol 65.3 13
genes like me logo Genes that share compounds with PLCB4: view

Transcripts for PLCB4 Gene

Unigene Clusters for PLCB4 Gene

Phospholipase C, beta 4:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for PLCB4

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PLCB4 Gene

No ASD Table

Relevant External Links for PLCB4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PLCB4 Gene

mRNA expression in normal human tissues for PLCB4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PLCB4 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (6.3) and Brain - Cerebellum (5.4).

Protein differential expression in normal tissues for PLCB4 Gene

This gene is overexpressed in Salivary gland (45.1) and Fetal Brain (6.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for PLCB4 Gene

SOURCE GeneReport for Unigene cluster for PLCB4 Gene Hs.472101

mRNA Expression by UniProt/SwissProt for PLCB4 Gene

Tissue specificity: Preferentially expressed in the retina
genes like me logo Genes that share expressions with PLCB4: view

Primer Products

In Situ Assay Products

No data available for Expression partners for PLCB4 Gene

Orthologs for PLCB4 Gene

This gene was present in the common ancestor of animals.

Orthologs for PLCB4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia PLCB4 35
  • 92.83 (n)
  • 97.75 (a)
PLCB4 36
  • 96 (a)
(Canis familiaris)
Mammalia PLCB4 35
  • 94.1 (n)
  • 98.64 (a)
PLCB4 36
  • 99 (a)
(Mus musculus)
Mammalia Plcb4 35
  • 91.09 (n)
  • 98.04 (a)
Plcb4 16
Plcb4 36
  • 96 (a)
(Pan troglodytes)
Mammalia PLCB4 35
  • 99.63 (n)
  • 99.74 (a)
PLCB4 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Plcb4 35
  • 90.64 (n)
  • 97.7 (a)
(Monodelphis domestica)
Mammalia PLCB4 36
  • 95 (a)
(Ornithorhynchus anatinus)
Mammalia PLCB4 36
  • 94 (a)
(Gallus gallus)
Aves PLCB4 35
  • 84.68 (n)
  • 93.67 (a)
PLCB4 36
  • 92 (a)
(Anolis carolinensis)
Reptilia PLCB4 36
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia plcb4 35
  • 79.44 (n)
  • 87.73 (a)
Str.19975 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.16486 35
(Danio rerio)
Actinopterygii Dr.11155 35
LOC100537538 35
  • 69.02 (n)
  • 73.42 (a)
fruit fly
(Drosophila melanogaster)
Insecta norpA 37
  • 48 (a)
norpA 35
  • 58.14 (n)
  • 56.4 (a)
norpA 36
  • 54 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001936 35
  • 58.62 (n)
  • 58.75 (a)
(Caenorhabditis elegans)
Secernentea egl-8 37
  • 48 (a)
Y75B12B.6 37
  • 33 (a)
egl-8 35
  • 55.6 (n)
  • 52.85 (a)
egl-8 36
  • 42 (a)
Species with no ortholog for PLCB4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 PLCB4 Gene

Gene Tree for PLCB4 (if available)
Gene Tree for PLCB4 (if available)

Paralogs for PLCB4 Gene

Paralogs for PLCB4 Gene

(8) SIMAP similar genes for PLCB4 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with PLCB4: view

Variants for PLCB4 Gene

Sequence variations from dbSNP and Humsavar for PLCB4 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs6039408 -- 9,193,326(+) agggc(C/T)taatc intron-variant
rs6056449 -- 9,177,734(+) tgggc(C/T)taaat intron-variant
rs6056450 -- 9,177,814(+) TTTTA(C/T)GTATA intron-variant
rs6056451 -- 9,178,702(+) tcacc(C/T)ttagg intron-variant
rs6056452 -- 9,182,975(+) CTTCA(A/G)GATTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PLCB4 Gene

Variant ID Type Subtype PubMed ID
nsv833917 CNV Gain 17160897
dgv1305e1 CNV Complex 17122850
nsv9783 CNV Loss 18304495
nsv515892 CNV Loss 19592680
esv2722165 CNV Deletion 23290073
esv2722166 CNV Deletion 23290073
nsv179569 CNV Loss 16902084
nsv528402 CNV Loss 19592680
nsv9784 CNV Loss 18304495
nsv179491 CNV Loss 16902084
esv23697 CNV Loss 19812545
nsv821585 CNV Deletion 20802225
esv2660714 CNV Deletion 23128226
nsv179490 CNV Loss 16902084
esv1126957 CNV Insertion 17803354
esv2671466 CNV Deletion 23128226
nsv3283 CNV Loss 18451855
nsv3284 CNV Insertion 18451855
nsv529042 CNV Loss 19592680
esv23892 CNV Gain 19812545
nsv912659 CNV Loss 21882294
nsv178973 CNV Insertion 16902084
nsv458865 CNV Loss 19166990

Relevant External Links for PLCB4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PLCB4 Gene

Disorders for PLCB4 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for PLCB4 Gene in MalaCards »

(3) Diseases for PLCB4 Gene

(1) OMIM Diseases for PLCB4 Gene (600810)


  • Auriculocondylar syndrome 2 (ARCND2) [MIM:614669]: A craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. {ECO:0000269 PubMed:22560091}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(11) Novoseek inferred disease relationships for PLCB4 Gene

Disease -log(P) Hits PubMed IDs
meningioma 9.05 3
cancer 5.22 1
carcinoma squamous cell 0 1
necrosis 0 1
glioma 0 1

Relevant External Links for PLCB4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with PLCB4: view

No data available for University of Copenhagen DISEASES and Genatlas for PLCB4 Gene

Publications for PLCB4 Gene

  1. cDNA sequence and gene locus of the human retinal phosphoinositide- specific phospholipase-C beta 4 (PLCB4). (PMID: 8530101) Alvarez R.A. … Baehr W. (Genomics 1995) 2 3 4
  2. The DNA sequence and comparative analysis of human chromosome 20. (PMID: 11780052) Deloukas P. … Rogers J. (Nature 2001) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 48
  4. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E. … Estivill X. (J Psychiatr Res 2010) 3 48
  5. Circadian clock gene polymorphisms in alcohol use disorders and alcohol consumption. (PMID: 20554694) Kovanen L. … Partonen T. (Alcohol Alcohol. 2010) 3 48

Products for PLCB4 Gene

Sources for PLCB4 Gene

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