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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PLCL2
phospholipase C like 2
Chromosome 3 · 3p24.3
NCBI Gene: 23228Ensembl: ENSG00000154822.19HGNC: HGNC:9064UniProt: Q9UPR0
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GABA receptor bindingprotein bindingphosphatidylinositol-4,5-bisphosphate phospholipase C activitygamma-aminobutyric acid signaling pathwaypsoriasisintelligencerheumatoid arthritissubstance-related disorder
✦AI Summary

PLCL2 (phospholipase C like 2) is a phospholipase enzyme located on chromosome 3.3 that regulates inositol 1,4,5-trisphosphate signaling around the endoplasmic reticulum and modulates calcium release and phosphatidylinositol-mediated signaling pathways 1. The gene exhibits GABA receptor binding activity and influences GABAergic synaptic transmission and cold-induced thermogenesis [GO annotations]. PLCL2 genetic variants are associated with multiple disease susceptibilities. SNPs rs1372072 and rs11117432 confer increased systemic sclerosis risk, particularly the limited cutaneous subtype 2. PLCL2 variants rs4685423 and rs4618210 significantly associate with large artery atherosclerotic stroke risk in Han Chinese populations 3, with rs4685423 also predicting early neurological deterioration in stroke patients 4. The gene represents a novel psoriasis susceptibility locus identified through meta-analysis 5. Additionally, PLCL2 polymorphisms associate with severe obesity phenotypes 6. Functionally, PLCL2 overexpression attenuates uterine muscle contraction and is regulated by progesterone receptor signaling in myometrial tissue, influencing labor and pregnancy outcomes 17. PLCL2 expression also correlates with triple-negative breast cancer prognosis and immunotherapy response 8.

Sources cited
1
PLCL2 rs1372072 is a susceptibility locus for systemic sclerosis, particularly limited cutaneous subtype
PMID: 25880423
2
PLCL2 rs4685423 SNP predicts early neurological deterioration risk in large artery atherosclerotic stroke
PMID: 38499234
3
PLCL2 at 3p24.3 is identified as a new psoriasis susceptibility locus
PMID: 25939698
4
PLCL2 SNPs rs4685423 and rs4618210 associate with large artery atherosclerotic stroke risk in Han Chinese
PMID: 31970634
5
PLCL2 is regulated by progesterone receptor signaling and attenuates uterine muscle cell contraction
PMID: 33707208
6
PLCL2 variants associate with severe obesity phenotypes in genome-wide association studies
PMID: 40939575
7
PLCL2 expression is significantly associated with triple-negative breast cancer clinical outcomes
PMID: 36880837
8
PGR-inferred activity positively correlates with PLCL2 mRNA levels in human myometrium at term pregnancy
PMID: 40493036
Disease Associationsⓘ20
psoriasisOpen Targets
0.52Moderate
intelligenceOpen Targets
0.50Moderate
rheumatoid arthritisOpen Targets
0.48Moderate
substance-related disorderOpen Targets
0.43Moderate
duodenal ulcerOpen Targets
0.42Moderate
primary biliary cirrhosisOpen Targets
0.42Moderate
peptic ulcer diseaseOpen Targets
0.41Moderate
neurotic disorderOpen Targets
0.41Moderate
asthmaOpen Targets
0.40Moderate
major depressive disorderOpen Targets
0.39Weak
mood disorderOpen Targets
0.39Weak
cannabis dependenceOpen Targets
0.37Weak
smoking initiationOpen Targets
0.33Weak
osteoarthritis, hipOpen Targets
0.32Weak
obesityOpen Targets
0.32Weak
hypothyroidismOpen Targets
0.32Weak
gastric ulcerOpen Targets
0.32Weak
type 2 diabetes mellitusOpen Targets
0.31Weak
schizophreniaOpen Targets
0.31Weak
myocardial infarctionOpen Targets
0.30Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PLCL1Shared pathway100%PLCH1Shared pathway63%PLCB4Shared pathway56%PLCH2Shared pathway56%PLCB3Shared pathway42%PLCB2Shared pathway38%
Tissue Expression6 tissues
Heart
100%
Brain
48%
Ovary
43%
Bone Marrow
41%
Lung
24%
Liver
19%
Gene Interaction Network
Click a node to explore
PLCL2PLCL1PLCH1PLCB4PLCH2PLCB3PLCB2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9UPR0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.09Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.03 [0.01–0.09]
RankingsWhere PLCL2 stands among ~20K protein-coding genes
  • #11,580of 20,598
    Most Researched32
  • #40of 17,882
    Most Constrained (LOEUF)0.09 · top 1%
Genes detectedPLCL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis.
PMID: 25880423
Arthritis Res Ther · 2015
1.00
2
Variants in 3p24.3 predicts the risk of early neurological deterioration in large artery atherosclerotic stroke.
PMID: 38499234
Brain Res · 2024
0.90
3
Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci.
PMID: 25939698
Nat Commun · 2015
0.80
4
Two Novel SNPs in the PLCL2 Gene Associated with Large Artery Atherosclerotic Stroke Identified by Fine-Mapping.
PMID: 31970634
J Mol Neurosci · 2020
0.70
5
Progesterone receptor isoform B regulates the
PMID: 33707208
Proc Natl Acad Sci U S A · 2021
0.60