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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PLCXD3
phosphatidylinositol specific phospholipase C X domain containing 3
Chromosome 5 · 5p13.1
NCBI Gene: 345557Ensembl: ENSG00000182836.11HGNC: HGNC:31822UniProt: B3KXD1
7PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingphosphoric diester hydrolase activitysynapselipid metabolic processalcohol drinkingresponse to xenobiotic stimulusAlzheimer diseaseProptosis
✦AI Summary

PLCXD3 (phosphatidylinositol specific phospholipase C X domain containing 3) is a phospholipase involved in phosphoinositide signaling pathways with diverse tissue-specific functions. In pancreatic β-cells, PLCXD3 regulates glucose-stimulated insulin secretion and insulin content, with reduced expression correlating with impaired insulin signaling and downregulation of key genes including Insulin, NEUROD1, GLUT2, and GCK 1. The protein is highly expressed in human islets, and its expression inversely correlates with BMI and HbA1c levels in diabetic patients 1. Genetic variants in PLCXD3 (rs319013 and rs9292806) are associated with increased metabolic syndrome risk and altered glucose metabolism in healthy individuals 2. In reproductive biology, PLCXD3 is expressed in testicular germ cells and is regulated by miR-34c-3p, with protein absence observed in severe oligozoospermia patients 3. PLCXD3 also functions as a tumor suppressor in gastric cancer, where its downregulation promotes cell stemness, invasiveness, and EMT through Wnt/β-catenin pathway activation 4. Additionally, PLCXD3 variants have been investigated in neuropsychiatric disorders, with conflicting evidence regarding associations with bipolar disorder 5 and Creutzfeldt-Jakob disease 67. The protein appears to be primarily brain-expressed and involved in lipid catabolism and cellular signaling across multiple organ systems.

Sources cited
1
PLCXD3 regulates glucose-stimulated insulin secretion in pancreatic β-cells and its expression correlates with metabolic parameters
PMID: 31781030
2
PLCXD3 genetic variants rs319013 and rs9292806 are associated with metabolic syndrome risk
PMID: 32570874
3
PLCXD3 is expressed in testicular germ cells and regulated by miR-34c-3p, with reduced expression in severe oligozoospermia
PMID: 27486773
4
PLCXD3 functions as tumor suppressor in gastric cancer by inhibiting stemness and invasiveness via Wnt/β-catenin pathway
PMID: 41633675
5
PLCXD3 variants investigated for association with early-onset bipolar disorder
PMID: 25111785
6
Initial report of PLCXD3 variants associated with Creutzfeldt-Jakob disease
PMID: 24028506
7
Failed replication of PLCXD3 association with Creutzfeldt-Jakob disease in large international study
PMID: 27055460
Disease Associationsⓘ20
alcohol drinkingOpen Targets
0.36Weak
response to xenobiotic stimulusOpen Targets
0.30Weak
Alzheimer diseaseOpen Targets
0.25Weak
ProptosisOpen Targets
0.25Weak
benign neoplasm of adrenal glandOpen Targets
0.23Weak
breast diseaseOpen Targets
0.22Weak
preeclampsiaOpen Targets
0.21Weak
Benign Brain NeoplasmOpen Targets
0.15Weak
Central Nervous System NeoplasmOpen Targets
0.15Weak
breast carcinomaOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.04Suggestive
gastric carcinomaOpen Targets
0.04Suggestive
gastric cancerOpen Targets
0.03Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.03Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.03Suggestive
clear cell renal carcinomaOpen Targets
0.03Suggestive
metabolic syndromeOpen Targets
0.02Suggestive
macular degenerationOpen Targets
0.02Suggestive
cardiomyopathyOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ZNF202Shared pathway100%FAM135BShared pathway100%PLCXD1Shared pathway100%FAM135AShared pathway100%ABHD11Shared pathway100%ZNF670Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Ovary
34%
Brain
6%
Liver
2%
Lung
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
PLCXD3ZNF202FAM135BPLCXD1FAM135AABHD11ZNF670
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q63HM9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.05LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.50–1.05]
RankingsWhere PLCXD3 stands among ~20K protein-coding genes
  • #17,925of 20,598
    Most Researched7
  • #10,513of 17,882
    Most Constrained (LOEUF)1.05
Genes detectedPLCXD3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Common and rare variant analysis in early-onset bipolar disorder vulnerability.
PMID: 25111785
PLoS One · 2014
1.00
2
Isolation, phylogenetics, and characterization of a new PDCoV strain that affects cellular gene expression in human cells.
PMID: 40207165
Front Microbiol · 2025
0.90
3
Genetic Variants of the
PMID: 32570874
Genes (Basel) · 2020
0.80
4
Splice site SNPs of phospholipase PLCXD3 are significantly associated with variant and sporadic Creutzfeldt-Jakob disease.
PMID: 24028506
BMC Med Genet · 2013
0.70
5
Reduced Expression of
PMID: 31781030
Front Endocrinol (Lausanne) · 2019
0.60