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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLCB3
phospholipase C beta 3
Chromosome 11 · 11q13.1
NCBI Gene: 5331Ensembl: ENSG00000149782.14HGNC: HGNC:9056UniProt: Q01970
103PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of systemic arterial blood pressurephosphatidylinositol-4,5-bisphosphate phospholipase C activityprotein bindingcalmodulin bindingspondylometaphyseal dysplasia with corneal dystrophyneurodegenerative diseasetype 2 diabetes mellitushypertension
✦AI Summary

PLCB3 (phospholipase C beta 3) is a key signal transduction enzyme that catalyzes production of second messengers diacylglycerol and inositol 1,4,5-trisphosphate, primarily activated downstream of G protein-coupled receptors through G(q)/G(11) alpha proteins 12. The gene, located on chromosome 11, contains 31 exons spanning approximately 15 kb with a 4.4 kb transcript 34. PLCB3 plays critical roles in multiple physiological processes. Large-scale genetic studies identified PLCB3 as a candidate gene for blood pressure regulation, with rare variants showing ~8-fold larger effects than common variants 5. In the cerebellum, PLCB3 serves as a neuroplasticity marker, exhibiting distinct compartmentalization patterns in primate cerebellar cortex and nuclei 6. Disease relevance is substantial. PLCB3 acts as a tumor suppressor in neuroendocrine cancers, with low expression correlating with neoplastic phenotype, and its restoration inhibiting cell growth and tumorigenicity 7. In colorectal cancer, PLCB3 represents an oncogenic driver, with high expression predicting poor prognosis; cetuximab treatment inhibits CRC progression partly through PLCB3 modulation 8. Bipolar disorder fine-mapping identified PLCB3 among genes involved in neurotransmission and neurodevelopment 9. In ulcerative colitis, PLCB3 downregulation suggests loss of intestinal homeostatic function 10.

Sources cited
1
PLCB3 catalyzes production of DAG and IP3; activated by G(q)/G(11) alpha proteins downstream of GPCR signaling
PMID: 20966218
2
PLCB3 is key transducer of GPCR signaling through G(q)/G(11) activation
PMID: 37991948
3
PLCB3 genomic organization: 31 exons, ~15 kb transcription unit, 4.4 kb transcript, 1234 amino acids
PMID: 7607669
4
PLCB3 localized to chromosome 11q13
PMID: 7789993
5
PLCB3 is candidate causal gene for blood pressure regulation; rare variants show ~8-fold larger effects than common variants
PMID: 33230300
6
PLCB3 is neuroplasticity marker with distinct compartmentalization in primate cerebellar cortex and nuclei
PMID: 39439015
7
PLCB3 suppresses neoplastic phenotype in neuroendocrine tumor cells; low expression correlates with tumorigenicity
PMID: 10359076
8
PLCB3 is oncogene in colorectal cancer; high expression predicts poor prognosis; cetuximab inhibits CRC through PLCB3 modulation
PMID: 38724565
9
PLCB3 identified as candidate gene in bipolar disorder through fine-mapping; role in neurotransmission and neurodevelopment
PMID: 38405768
10
PLCB3 significantly downregulated in ulcerative colitis; associated with lipid metabolism and NF-κB signaling pathways
PMID: 40892863
Disease Associationsⓘ21
spondylometaphyseal dysplasia with corneal dystrophyOpen Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.16Weak
hypertensionOpen Targets
0.11Weak
skin cancerOpen Targets
0.10Weak
capillary malformationOpen Targets
0.07Suggestive
familial multiple nevi flammeiOpen Targets
0.07Suggestive
nevus comedonicus syndromeOpen Targets
0.07Suggestive
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndromeOpen Targets
0.07Suggestive
skin neoplasmOpen Targets
0.07Suggestive
dermatitisOpen Targets
0.07Suggestive
Dyschromatosis universalisOpen Targets
0.07Suggestive
dyschromatosis universalis hereditaria 3Open Targets
0.07Suggestive
nevusOpen Targets
0.06Suggestive
nevus, epidermalOpen Targets
0.06Suggestive
multiple endocrine neoplasia type 1Open Targets
0.06Suggestive
cutaneous melanomaOpen Targets
0.06Suggestive
recessive aplasia cutis congenita of limbsOpen Targets
0.05Suggestive
colorectal carcinomaOpen Targets
0.05Suggestive
immunodeficiency 107, susceptibility to invasive staphylococcus aureus infectionOpen Targets
0.04Suggestive
Spondylometaphyseal dysplasia with corneal dystrophyUniProt
Pathogenic Variants1
NM_000932.5(PLCB3):c.2632G>T (p.Ala878Ser)Likely pathogenic
Spondylometaphyseal dysplasia with corneal dystrophy
★☆☆☆2024→ Residue 878
View on ClinVar ↗
Related Genes
P2RY2Protein interaction100%GNB1Protein interaction99%GNAT3Protein interaction98%CASRProtein interaction95%CHRM1Protein interaction95%GNA11Protein interaction95%
Tissue Expression6 tissues
Lung
100%
Ovary
91%
Bone Marrow
55%
Liver
38%
Heart
33%
Brain
16%
Gene Interaction Network
Click a node to explore
PLCB3P2RY2GNB1GNAT3CASRCHRM1GNA11
PROTEIN STRUCTURE
Preparing viewer…
PDB7SQ2 · 2.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.47Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.37 [0.30–0.47]
RankingsWhere PLCB3 stands among ~20K protein-coding genes
  • #4,658of 20,598
    Most Researched103 · top quartile
  • #4,876of 5,498
    Most Pathogenic Variants1
  • #2,679of 17,882
    Most Constrained (LOEUF)0.47 · top quartile
Genes detectedPLCB3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.
PMID: 33230300
Nat Genet · 2020
1.00
2
Genomic organization and complete cDNA sequence of the human phosphoinositide-specific phospholipase C beta 3 gene (PLCB3).
PMID: 7607669
Genomics · 1995
0.90
3
Transcriptional profiling identification of inflammatory signaling pathways in ulcerative colitis.
PMID: 40892863
PLoS One · 2025
0.80
4
Localization of the human phosphatidylinositol-specific phospholipase c beta 3 gene (PLCB3) within chromosome band 11q13.
PMID: 7789993
Genomics · 1995
0.70
5
Fine-mapping genomic loci refines bipolar disorder risk genes.
PMID: 38405768
medRxiv · 2024
0.60