2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
phosphoric diester hydrolase activitylipid metabolic processnucleusneurodegenerative diseasefrozen shoulderRetinal hemorrhagehemorrhoid
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.
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: 403934512
PLCXD2 intronic polymorphism rs2399395 is associated with esophageal squamous cell carcinoma risk in Han Chinese populations
PMID: 31053115β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
neurodegenerative diseaseOpen Targets
frozen shoulderOpen Targets
Retinal hemorrhageOpen Targets
lacrimal apparatus diseaseOpen Targets
atrial fibrillationOpen Targets
Abnormal erythrocyte morphologyOpen Targets
adolescent idiopathic scoliosisOpen Targets
atypical teratoid rhabdoid tumorOpen Targets
cardiac arrhythmiaOpen Targets
Phenotypic abnormalityOpen Targets
ataxia telangiectasiaOpen Targets
childhood supratentorial ependymomaOpen Targets
glioblastoma multiformeOpen Targets
No pathogenic variants reported on ClinVar for this gene.