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Aliases for PLCB4 Gene

Aliases for PLCB4 Gene

  • Phospholipase C Beta 4 2 3 5
  • Phosphoinositide Phospholipase C-Beta-4 3 4
  • EC 4 58
  • PLC-Beta-4 3 4
  • 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 2
  • Phospholipase C-Beta-4 4
  • Phosphoinositidase C 3
  • PI-PLC 3
  • ARCND2 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 Calcium signaling pathway and Long-term potentiation. 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 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. There are four major classes; phospholipase A, phospholipase B, phosphoinositide-specific phospholipase C and phospholipase D.

Gene Wiki entry for PLCB4 Gene

Additional gene information for PLCB4 Gene

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

Genomics for PLCB4 Gene

Regulatory Elements for PLCB4 Gene

Enhancers for PLCB4 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
GH20H009025 0.9 ENCODE 24.5 -42.9 -42927 1.1 ZNF766 ELK1 FOS CAVIN1 ZBTB11 USF2 HDAC8 ZNF592 MEF2D TFDP1 PLCB4 RNU105B ENSG00000275222
GH20H009200 1.1 FANTOM5 Ensembl ENCODE 17.7 +132.0 131967 0.9 PKNOX1 JUND HDAC2 SIN3A NR3C1 PLCB4 GC20M009109 GC20P009380
GH20H009035 1 FANTOM5 ENCODE 19.3 -33.3 -33349 0.7 ZNF280D INSM2 TSHZ1 ZEB2 OSR2 JUND GLIS2 ZNF692 GLIS1 ZNF629 PLCB4 ENSG00000275222
GH20H009092 0.7 Ensembl ENCODE 19.2 +24.7 24651 1.5 PKNOX1 PRDM6 PRDM10 PLCB4 GC20M009109
GH20H009013 0.5 Ensembl ENCODE 26.8 -53.1 -53085 3.5 PLCB4 ENSG00000275222
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PLCB4 on UCSC Golden Path with GeneCards custom track

Promoters for PLCB4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000134422 190 2200 PKNOX1 SIN3A ZNF2 ZBTB7B GLIS2 SP3 REST ZFP41 GLIS1 WT1

Genomic Locations for PLCB4 Gene

Genomic Locations for PLCB4 Gene
412,533 bases
Plus strand

Genomic View for PLCB4 Gene

Genes around PLCB4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PLCB4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Selected DME Specific Peptides for PLCB4 Gene


Post-translational modifications for PLCB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PLCB4 Gene

Gene Families for PLCB4 Gene

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

Suggested Antigen Peptide Sequences for PLCB4 Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for PLCB4 Gene

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

Phenotypes From GWAS Catalog 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 TAS --
GO:0004629 phospholipase C activity TAS --
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

Human Phenotype Ontology for PLCB4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PLCB4 Gene

MGI Knock Outs for PLCB4:

miRNA for PLCB4 Gene

miRTarBase miRNAs that target PLCB4

Clone Products

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

Localization for PLCB4 Gene

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 PLCB4 gene
Compartment Confidence
cytosol 5
nucleus 3
endoplasmic reticulum 2
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubules (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PLCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005634 nucleus IEA --
GO:0005790 smooth endoplasmic reticulum IEA --
GO:0005829 cytosol TAS --
GO:0014069 postsynaptic density 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 & Interactions for PLCB4 Gene

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

Pathways by source for PLCB4 Gene

Interacting Proteins for PLCB4 Gene

Gene Ontology (GO) - Biological Process for PLCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0007268 chemical synaptic transmission IEA --
GO:0016042 lipid catabolic process IEA --
GO:0035556 intracellular signal transduction IEA --
genes like me logo Genes that share ontologies with PLCB4: view

No data available for SIGNOR curated interactions for PLCB4 Gene

Drugs & Compounds for PLCB4 Gene

(25) Drugs for PLCB4 Gene - From: HMDB and Novoseek

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

(416) Additional Compounds for PLCB4 Gene - From: HMDB and Novoseek

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
  • 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)

(5) Tocris Compounds for PLCB4 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 PLCB4: view

Transcripts for PLCB4 Gene

Unigene Clusters for PLCB4 Gene

Phospholipase C, beta 4:
Representative Sequences:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x6.3) and Brain - Cerebellum (x5.4).

Protein differential expression in normal tissues from HIPED for PLCB4 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PLCB4 Gene

NURSA nuclear receptor signaling pathways regulating expression of PLCB4 Gene:


SOURCE GeneReport for Unigene cluster for PLCB4 Gene:


mRNA Expression by UniProt/SwissProt for PLCB4 Gene:

Tissue specificity: Preferentially expressed in the retina.

Evidence on tissue expression from TISSUES for PLCB4 Gene

  • Nervous system(4.7)
  • Eye(4.3)
  • Lung(2.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PLCB4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • pharynx
  • skull
  • tongue
  • tooth
  • vocal cord
  • lung
  • trachea
  • skin
genes like me logo Genes that share expression patterns with PLCB4: view

No data available for Protein tissue co-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
(Pan troglodytes)
Mammalia PLCB4 33 34
  • 99.63 (n)
(Monodelphis domestica)
Mammalia PLCB4 34
  • 95 (a)
(Canis familiaris)
Mammalia PLCB4 33 34
  • 94.1 (n)
(Ornithorhynchus anatinus)
Mammalia PLCB4 34
  • 94 (a)
(Bos Taurus)
Mammalia PLCB4 33 34
  • 92.83 (n)
(Mus musculus)
Mammalia Plcb4 33 16 34
  • 91.09 (n)
(Rattus norvegicus)
Mammalia Plcb4 33
  • 90.64 (n)
(Gallus gallus)
Aves PLCB4 33 34
  • 84.68 (n)
(Anolis carolinensis)
Reptilia PLCB4 34
  • 91 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia plcb4 33
  • 79.44 (n)
Str.19975 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.16486 33
(Danio rerio)
Actinopterygii LOC100537538 33
  • 69.02 (n)
Dr.11155 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001936 33
  • 58.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta norpA 35 33 34
  • 58.14 (n)
(Caenorhabditis elegans)
Secernentea egl-8 35 33 34
  • 55.6 (n)
Y75B12B.6 35
  • 33 (a)
Species where no ortholog for PLCB4 was found in the sources mined by GeneCards:
  • 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
rs387907179 Pathogenic, Auriculocondylar syndrome 2 (ARCND2) [MIM:614669] 9,384,333(+) CCATA(A/C/G)CACTT reference, missense
rs397514480 Pathogenic, Auriculocondylar syndrome 2 (ARCND2) [MIM:614669] 9,409,086(+) CATTT(A/G)CCCCA reference, missense
rs397514481 Pathogenic, Auriculocondylar syndrome 2 (ARCND2) [MIM:614669] 9,409,080(+) GAGTC(A/G/T)CATTT reference, missense
rs397514482 Pathogenic, Auriculocondylar syndrome 2 (ARCND2) [MIM:614669] 9,409,079(+) TGAGT(A/C/T)GCATT reference, missense
rs397514483 Pathogenic, Auriculocondylar syndrome 2 (ARCND2) [MIM:614669] 9,409,166(+) CACTG(A/C)ACTAT reference, missense

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

Variant ID Type Subtype PubMed ID
nsv9784 CNV loss 18304495
nsv9783 CNV loss 18304495
nsv965854 CNV duplication 23825009
nsv833917 CNV gain 17160897
nsv821585 CNV deletion 20802225
nsv585410 CNV loss 21841781
nsv529042 CNV loss 19592680
nsv528402 CNV loss 19592680
nsv515892 CNV loss 19592680
nsv472851 CNV novel sequence insertion 20440878
nsv458865 CNV loss 19166990
nsv3284 CNV insertion 18451855
nsv3283 CNV deletion 18451855
nsv179569 CNV deletion 16902084
nsv179491 CNV deletion 16902084
nsv179490 CNV deletion 16902084
nsv178973 CNV insertion 16902084
nsv1138919 CNV deletion 24896259
nsv1058716 CNV gain 25217958
esv3893285 CNV loss 25118596
esv3645179 CNV gain 21293372
esv3584442 CNV loss 25503493
esv3225592 CNV deletion 24192839
esv2758780 CNV loss 17122850
esv2722166 CNV deletion 23290073
esv2722165 CNV deletion 23290073
esv2671466 CNV deletion 23128226
esv2660714 CNV deletion 23128226
esv23892 CNV gain 19812545
esv23697 CNV loss 19812545
esv1126957 CNV insertion 17803354
dgv269e215 CNV deletion 23714750

Variation tolerance for PLCB4 Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 13.64; 95.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PLCB4 Gene

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

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

Disorders for PLCB4 Gene

MalaCards: The human disease database

(11) MalaCards diseases for PLCB4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
auriculocondylar syndrome 2
  • arcnd2
auriculo-condylar syndrome
  • auriculocondylar syndrome
auriculocondylar syndrome 1
  • acs
agnathia-otocephaly complex
  • agnathia-holoprosencephaly-situs inversus syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PLCB4 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for PLCB4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PLCB4: view

No data available for 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 RA … Baehr W (Genomics 1995) 2 3 4 60
  2. A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. (PMID: 22560091) Rieder MJ … Cunningham ML (American journal of human genetics 2012) 3 4 60
  3. 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
  4. Common variations in PSMD3-CSF3 and PLCB4 are associated with neutrophil count. (PMID: 20172861) Okada Y … Kamatani N (Human molecular genetics 2010) 3 45 60
  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 45 60

Products for PLCB4 Gene

Sources for PLCB4 Gene

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