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 thi... See more...

Aliases for PLCB4 Gene

Aliases for PLCB4 Gene

  • Phospholipase C Beta 4 2 3 5
  • 1-Phosphatidylinositol 4,5-Bisphosphate Phosphodiesterase Beta-4 3 4
  • Phosphoinositide Phospholipase C-Beta-4 3 4
  • EC 4 50
  • 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 2
  • Phospholipase C-Beta-4 4
  • Phosphoinositidase C 3
  • ARCND2 3
  • PI-PLC 3
  • PLCB4 5

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 Apelin signaling pathway and G-Beta Gamma Signaling. Gene Ontology (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 Summary 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 CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PLCB4 Gene

Genomics for PLCB4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PLCB4 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
GH20J009066 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 258.3 +1.1 1139 7.1 ZNF600 CEBPA POLR2A ZIC2 ZBTB10 ZNF341 ZEB1 ZBTB7B ZNF217 SIN3A PLCB4 piR-48209-403 LAMP5
GH20J009168 Promoter 0.3 EPDnew 261.8 +100.2 100232 0.1 PLCB4 piR-48209-403 LAMP5
GH20J009370 Promoter 0.3 EPDnew 250.1 +302.3 302286 0.1 RF00017-3174 PLCB4 piR-54496-009 LAMP5
GH20J009025 Enhancer 0.8 Ensembl ENCODE 24.5 -42.9 -42904 1.1 ZNF592 NFE2 RELA IRF9 EHMT2 MAFG DIDO1 CAVIN1 HDAC8 PYGO2 PLCB4 RNU105B ENSG00000275222 PLCB1
GH20J009035 Enhancer 1 FANTOM5 Ensembl ENCODE 19.3 -33.3 -33317 0.7 JUND INSM2 ZNF24 GLIS1 SP7 ZXDB ZEB2 ZNF280D ZNF629 ZNF692 PLCB4 ENSG00000275222 PLCB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PLCB4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PLCB4

Top Transcription factor binding sites by QIAGEN in the PLCB4 gene promoter:
  • Egr-4
  • FOXJ2
  • FOXJ2 (long isoform)
  • POU2F1
  • POU2F1a
  • S8
  • SRF
  • SRF (504 AA)

Genomic Locations for PLCB4 Gene

Latest Assembly
412,565 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
412,131 bases
Plus strand

(GRCh37/hg19 by Ensembl)
412,480 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

Protein Domains for PLCB4 Gene

  • C2 domain
  • Phosphatidylinositol-specific phospholipase C, X domain
  • Protein of unknown function DUF1154

Suggested Antigen Peptide Sequences for PLCB4 Gene

GenScript: Design optimal peptide antigens:
  • Phospholipase C-beta-4 (PLCB4_HUMAN)
  • Phospholipase C, beta 4 (Q5JYS9_HUMAN)
genes like me logo Genes that share domains with PLCB4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for PLCB4 Gene

Function for PLCB4 Gene

Molecular function for PLCB4 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. This form has a role in retina signal transduction.
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=; Evidence={ECO:0000250|UniProtKB:Q07722};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = 1D-myo-inositol 1-phosphate + a 1,2-diacyl-sn-glycerol + H(+); Xref=Rhea:RHEA:43484, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17815, ChEBI:CHEBI:57880, ChEBI:CHEBI:58433; Evidence={ECO:0000250|UniProtKB:Q07722};.
GENATLAS Biochemistry:
phospholipase C,beta 4,phosphoinositide specific,retinal,expressedin the cerebellum and with three isoforms with specific expressions in the rat

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 IBA 21873635
GO:0004629 phospholipase C activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 25416956
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 Models for research

  • Taconic Biosciences Mouse Models for PLCB4

miRNA for PLCB4 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCB4

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 4
endoplasmic reticulum 3
plasma membrane 2
cytoskeleton 2
extracellular 1
mitochondrion 1
golgi apparatus 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: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 & Interactions for PLCB4 Gene

PathCards logo

SuperPathways for PLCB4 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 PLCB4: view

Pathways by source for PLCB4 Gene

19 GeneGo (Thomson Reuters) pathways for PLCB4 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 PLCB4 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 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:0007186 G protein-coupled receptor signaling pathway TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
myo-Inositol 1,4,5-trisphosphate Experimental Pharma 0
Calcium Nutra 6959
AACOCF3 Pharma Inhibitor of cPLA2/anandamide hydrolysis/FAAH, Phospholipase A2 inhibitor 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 1-Palmitoyl-2-lignoceroyl-sn-glycerol
  • DAG(16:0/24:0)
  • DAG(40:0)
  • DG(16:0/24:0)
  • DG(40:0)
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (11Z)-icos-11-enoic acid
  • Diacylglycerol(15:0/0:0/20:1)
  • DAG(35:1)
  • Diacylglycerol(35:1)
  • DG(15:0/0:0/20:1W9)
Diglycerides Group B
  • Diglyceride
  • DG(32:4)
  • DG(14:1/18:3)
  • DAG(14:1/18:3)
  • Diacylglycerol(32:4)
Diglycerides Group C
  • (2S)-1-Hydroxy-3-(palmitoyloxy)propan-2-yl (5Z,8Z,11Z,14Z)-icosa-5,8,11,14-tetraenoate
  • 1,2-DG 16:0/20:4(omega-6)
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z)-icosatetraenoyl-sn-glycerol
  • 1-Hexadecanoyl-2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-sn-glycerol
  • DAG(16:0/20:4)
91125-76-7, 29541-66-0, 51621-26-2
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 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

mRNA/cDNA for PLCB4 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PLCB4

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

No ASD Table

Relevant External Links for PLCB4 Gene

GeneLoc Exon Structure for

Expression for PLCB4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PLCB4

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(4.5)
  • Lung(2.8)
  • Muscle(2.1)
  • Skin(2)

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

Primer products for research

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 29 30
  • 99.63 (n)
(Monodelphis domestica)
Mammalia PLCB4 30
  • 95 (a)
(Canis familiaris)
Mammalia PLCB4 29 30
  • 94.1 (n)
(Ornithorhynchus anatinus)
Mammalia PLCB4 30
  • 94 (a)
(Bos Taurus)
Mammalia PLCB4 29 30
  • 92.83 (n)
(Mus musculus)
Mammalia Plcb4 29 16 30
  • 91.09 (n)
(Rattus norvegicus)
Mammalia Plcb4 29
  • 90.64 (n)
(Gallus gallus)
Aves PLCB4 29 30
  • 84.68 (n)
(Anolis carolinensis)
Reptilia PLCB4 30
  • 91 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia plcb4 29
  • 79.44 (n)
Str.19975 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.16486 29
(Danio rerio)
Actinopterygii LOC100537538 29
  • 69.02 (n)
Dr.11155 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001936 29
  • 58.62 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta norpA 29 30 31
  • 58.14 (n)
(Caenorhabditis elegans)
Secernentea egl-8 29 30 31
  • 55.6 (n)
Y75B12B.6 31
  • 33 (a)
Species where no ortholog for PLCB4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Evolutionary constrained regions (ECRs) for PLCB4: view image
Alliance of Genome Resources:
Additional Orthologs for PLCB4

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PLCB4 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1030923 Likely Pathogenic: Auriculocondylar syndrome 2 9,387,522(+) A/G
NM_001377142.1(PLCB4):c.1124A>G (p.His375Arg)
895822 Benign: Auriculocondylar syndrome 2 9,372,324(+) G/A
NM_001377142.1(PLCB4):c.607G>A (p.Ala203Thr)
895823 Uncertain Significance: Auriculocondylar syndrome 2 9,380,060(+) C/A
NM_001377142.1(PLCB4):c.751C>A (p.Arg251=)
895889 Uncertain Significance: Auriculocondylar syndrome 2 9,421,399(+) C/T
NM_001377142.1(PLCB4):c.2257C>T (p.Arg753Cys)
895954 Uncertain Significance: Auriculocondylar syndrome 2 9,479,479(+) C/A

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PLCB4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

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

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)

Additional Variant Information for PLCB4 Gene

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

SNP Genotyping and Copy Number Assays for research

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: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
auriculocondylar syndrome 2
  • arcnd2
auriculo-condylar syndrome
  • auriculocondylar syndrome
auriculocondylar syndrome 1
  • arcnd1
melanoma, uveal
  • uveal melanoma
ocular melanoma
  • eye melanoma
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for PLCB4

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

No data available for Genatlas for PLCB4 Gene

Publications for PLCB4 Gene

  1. 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 72
  2. 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
  3. 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 40
  4. Polymorphisms in innate immunity genes and patients response to dendritic cell-based HIV immuno-treatment. (PMID: 20056178) Segat L … Crovella S (Vaccine 2010) 3 40
  5. Comprehensive copy number variant (CNV) analysis of neuronal pathways genes in psychiatric disorders identifies rare variants within patients. (PMID: 20398908) Saus E … Estivill X (Journal of psychiatric research 2010) 3 40

Products for PLCB4 Gene

Sources for PLCB4 Gene