Variant Synonymizer: Platform to identify mutations defined in different ways is available now!

VarSy

Over 2,000 gene–disease validation summaries are now available—no login required!

Browse Summaries

IP6K2 – Parkinson disease

Recent multi‑patient studies have nominally associated IP6K2 with Parkinson disease, particularly with respect to variation in deep brain stimulation outcomes. In one surgicogenomic study of 150 patients (PMID:34602499), gene‐burden analyses including 202 rare nonsynonymous variants suggested a nominal association between IP6K2 and axial impairment following surgery. In a complementary investigation, a machine learning model nominated IP6K2 along with other inositol pathway genes from genome‑wide association evidence, further supporting its potential involvement in Parkinson disease (PMID:37804111).

However, the genetic evidence remains limited due to the absence of robust segregation data and replication in independent cohorts. Moreover, no Parkinson disease–specific functional experiments have been conducted for IP6K2; available functional studies in ovarian carcinoma provide mechanistic insights into its role in signaling but are not directly relevant to Parkinson disease. Key take‑home: While preliminary genetic analyses nominate IP6K2 as a potential modifier of Parkinson disease phenotype, additional focused studies are needed before clinical implementation.

References

  • Journal of Parkinson's disease • 2022 • Axial Impairment Following Deep Brain Stimulation in Parkinson's Disease: A Surgicogenomic Approach PMID:34602499
  • Brain • 2024 • Machine learning nominates the inositol pathway and novel genes in Parkinson's disease PMID:37804111

Evidence Based Scoring (AI generated)

Gene–Disease Association

Limited

Nominal association identified in a 150‑patient surgicogenomic study (PMID:34602499) and confirmed by machine learning prioritization from GWAS loci (PMID:37804111); lack of robust segregation or replication data limits the overall evidence.

Genetic Evidence

Limited

Evidence is based on burden analyses and nomination via machine learning with modest effect sizes and no detailed segregation data; this results in only preliminary genetic support.

Functional Evidence

Limited

No Parkinson disease–specific functional studies for IP6K2 exist. Although functional assays in ovarian carcinoma suggest an impact on signaling pathways, these findings are not directly applicable to Parkinson disease.