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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PLCXD2
phosphatidylinositol specific phospholipase C X domain containing 2
Chromosome 3 Β· 3q13.2
NCBI Gene: 257068Ensembl: ENSG00000240891.8HGNC: HGNC:26462UniProt: A0A1B0GW80
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
phosphoric diester hydrolase activitylipid metabolic processnucleusneurodegenerative diseasefrozen shoulderRetinal hemorrhagehemorrhoid
✦AI Summary

Based on limited published evidence, PLCXD2 is a phospholipase C family member containing an X domain with phosphoric diester hydrolase activity. PLCXD2 functions as a constitutively active signaling component within a postsynaptic GPR158-PLCXD2 complex that regulates spine apparatus abundance and dendritic spine maturation 1. In the absence of GPR158-mediated inhibition, unrestrained PLCXD2 activity impedes postsynaptic development and dendritic spine structural/functional maturation 1. Additionally, a PLCXD2 intronic polymorphism (rs2399395) was identified as associated with esophageal squamous cell carcinoma risk in genome-wide association studies 2.

Sources cited
1
PLCXD2 is a constitutively active PLC family member in a postsynaptic GPR158-PLCXD2 complex that controls spine apparatus abundance and dendritic spine maturation
PMID: 40393451
2
PLCXD2 intronic polymorphism rs2399395 is associated with esophageal squamous cell carcinoma risk in Han Chinese populations
PMID: 31053115
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.37Weak
frozen shoulderOpen Targets
0.29Weak
Retinal hemorrhageOpen Targets
0.29Weak
hemorrhoidOpen Targets
0.17Weak
cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.04Suggestive
lacrimal apparatus diseaseOpen Targets
0.04Suggestive
atrial fibrillationOpen Targets
0.03Suggestive
Abnormal erythrocyte morphologyOpen Targets
0.03Suggestive
adolescent idiopathic scoliosisOpen Targets
0.03Suggestive
atypical teratoid rhabdoid tumorOpen Targets
0.02Suggestive
exostosisOpen Targets
0.02Suggestive
cardiac arrhythmiaOpen Targets
0.02Suggestive
Phenotypic abnormalityOpen Targets
0.02Suggestive
ependymomaOpen Targets
0.02Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
childhood supratentorial ependymomaOpen Targets
0.01Suggestive
asthmaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
astrocytomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ZNF202Shared pathway100%FAM135BShared pathway100%PLCXD1Shared pathway100%FAM135AShared pathway100%ABHD11Shared pathway100%ZNF670Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
11%
Brain
6%
Heart
2%
Lung
2%
Ovary
0%
Gene Interaction Network
Click a node to explore
PLCXD2ZNF202FAM135BPLCXD1FAM135AABHD11ZNF670
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt A0A1B0GW80
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.49–1.00]
RankingsWhere PLCXD2 stands among ~20K protein-coding genes
  • #16,859of 20,598
    Most Researched11
  • #9,604of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedPLCXD2
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
A postsynaptic GPR158-PLCXD2 complex controls spine apparatus abundance and dendritic spine maturation.
PMID: 40393451
Dev Cell Β· 2025
1.00
2
Intronic polymorphisms in genes LRFN2 (rs2494938) and DNAH11 (rs2285947) are prognostic indicators of esophageal squamous cell carcinoma.
PMID: 31053115
BMC Med Genet Β· 2019
0.50