Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PLCB4 Gene

Aliases for PLCB4 Gene

  • Phospholipase C Beta 4 2 3 5
  • Phosphoinositide Phospholipase C-Beta-4 3 4
  • Phospholipase C, Beta 4 2 3
  • EC 4 63
  • PLC-Beta-4 3 4
  • DJ1119D9.2 (Phopholipase C, Beta 4 (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
  • 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 Platelet activation and Neuropathic Pain-Signaling in Dorsal Horn Neurons. GO annotations related to this gene include calcium ion binding and phosphoric diester hydrolase activity. An important paralog of this gene is PLCB3.

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

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

Enhancers for PLCB4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around PLCB4 on UCSC Golden Path with GeneCards custom track

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

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

Proteomics data for PLCB4 Gene at MOPED

Post-translational modifications for PLCB4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families 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 TAS --
GO:0008081 phosphoric diester hydrolase activity IEA --
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:

Animal Model Products

  • Taconic Biosciences Mouse Models for PLCB4

miRNA for PLCB4 Gene

miRTarBase miRNAs that target PLCB4

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 5
nucleus 3
endoplasmic reticulum 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for PLCB4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm 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 & 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

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:0007165 signal transduction IEA --
GO:0043267 negative regulation of potassium ion transport 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

(24) Drugs for PLCB4 Gene - From: HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0
D609 Pharma PC-PLC inhibitor, Selective PC-PLC inhibitor 0

(420) Additional Compounds for PLCB4 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
  • 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-stearoyl-sn-glycerol
  • 1-Tetradecanoyl-3-octadecanoyl-sn-glycerol
  • DAG(14:0/0:0/18:0)
  • DAG(32:0)
  • DG(32:0)
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
D609 Selective PC-PLC inhibitor 83373-60-8
m-3M3FBS Phospholipase C activator 200933-14-8
o-3M3FBS Inactive analog of m-3M3FBS (Cat. No. 1941) 313981-55-4
RHC 80267 Diacylglycerol lipase inhibitor 83654-05-1
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:

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 (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, 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 expression patterns with PLCB4: view

Primer Products

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
(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
rs6077510 - 9,307,875(+) AAGGA(A/G)CAGTT reference, missense
rs6118603 - 9,421,306(+) TATCA(A/G)GTCAA reference, missense
VAR_068559 Auriculocondylar syndrome 2 (ARCND2)
VAR_068560 Auriculocondylar syndrome 2 (ARCND2)
VAR_068561 Auriculocondylar syndrome 2 (ARCND2)

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

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)

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

Disorders for PLCB4 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PLCB4 Gene - From: 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 R.A. … Baehr W. (Genomics 1995) 2 3 4 67
  2. Phospholipase C-I^1 and I^4 contribute to non-genetic cell-to-cell variability in histamine-induced calcium signals in HeLa cells. (PMID: 24475116) Ishida S. … Mikoshiba K. (PLoS ONE 2014) 3
  3. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  4. PLCI^ isoforms differ in their subcellular location and their CT-domain dependent interaction with GI+q. (PMID: 23006664) Adjobo-Hermans M.J. … Gadella T.W. (Cell. Signal. 2013) 3
  5. Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations. (PMID: 23913798) Kido Y. … Nagai T. (Am. J. Med. Genet. A 2013) 3

Products for PLCB4 Gene

Sources for PLCB4 Gene