PLEKHM2

Last update 08 May 2025

Basic Info

Synonyms

KIAA0842, PH domain-containing family M member 2, pleckstrin homology and RUN domain containing M2

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Introduction

Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B. Required for ARL8B to exert its effects on lysosome location, recruits kinesin-1 to lysosomes and hence direct their movement toward microtubule plus ends. Binding to ARL8B provides a link from lysosomal membranes to plus-end-directed motility (PubMed:22172677, PubMed:24088571, PubMed:25898167, PubMed:28325809). Critical factor involved in NK cell-mediated cytotoxicity. Drives the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) toward the immune synapse between effector NK lymphocytes and target cells (PubMed:24088571). Required for maintenance of the Golgi apparatus organization (PubMed:22172677). May play a role in membrane tubulation (PubMed:15905402).

100 Clinical Results associated with PLEKHM2

100 Translational Medicine associated with PLEKHM2

0 Patents (Medical) associated with PLEKHM2

Literatures (Medical) associated with PLEKHM2

01 Mar 2025·JACC: Case Reports

Transcending Age Barriers

Article

Author: Cohen, Yossi ; Samoukovic, Gordon ; Ordonez, Maria Victoria ; Giannetti, Nadia ; Ganni, Elie ; Bendayan, Solomon ; Bendayan, Ethan

This case report describes a complex presentation of dilated cardiomyopathy (DCM) in a 14-year-old boy of Indian origin, initially presenting with nonspecific abdominal pain, who was eventually found to have severe biventricular dilatation and a rare genetic mutation in PLEKHM2, associated with increased trabeculations and DCM. His condition rapidly progressed to critical cardiogenic shock, necessitating advanced heart failure therapies. This case emphasizes the importance of considering DCM in pediatric patients with atypical presentations and underscores the utility of genetic testing in identifying rare pathologic conditions. It also highlights the challenges and successful management strategies in a pediatric patient treated within an adult health care setting, demonstrating the vital role of tailored multidisciplinary approaches in managing complex cardiomyopathies. The findings contribute to the limited literature on PLEKHM2-associated cardiomyopathy.

01 Sep 2024·Journal of the Formosan Medical Association

Genophenotypic correlates and long-term outcome prognosticators of left ventricular non-compaction in children

Article

Author: Chen, Wen-Pin ; Wu, Mei-Hwan ; Lee, Ni-Chung ; Chiu, Shuenn-Nan ; Juang, Jyh-Ming Jimmy ; Tseng, Wei-Chieh

BACKGROUNDTo investigate the outcomes, clinical prognosticators, and genetic profiles of pediatric left ventricular non-compaction (LVNC).METHODSAll subjects were <18 years old, diagnosed with LVNC between January 2008 and December 2020. Whole-exome sequencing was undertaken. The primary endpoint was composite outcome, including death, heart transplant, and left ventricular assist device implantation.RESULTSThirty-three patients were enrolled, males predominating (57.6%). Median age at diagnosis was 0.33 (0.1-7.2) years. Family history was documented in four (12.1%). Five (15.2%) had sustained arrhythmias. Mean follow-up period was 9.5 years, and 5- and 10-year event-free survival were 84.8% and 66.9%, respectively. Seven died of heart failure, four received heart transplants, and one required left ventricular assist device placement. Log of baseline NT-proBNP (adjusted odds ratio [aOR] = 4.4, p = 0.012) and lack of improvement in NT-proBNP (aOR = 41.2, p = 0.033) impacted the primary outcome most significantly. Eighteen out of 25 genetic testing (72%) revealed chromosomal anomalies, or pathogenic or likely pathogenic variants. Three genetic variants (PLEKHM2 p.G419R, RYR2 p.V2571A, and SCN5A p.M1676I) were significantly associated with the primary outcome (p = 1.52 × 10^-6).CONCLUSIONSPediatric LVNC is a rare disorder with variable genetic underpinnings. Baseline NT-proBNP values and lack of improvement in NT-proBNP levels were important predictors of poor long-term outcomes. Pathogenic genetic variants or chromosomal anomalies are not unusual.

01 Aug 2024·F&S Science

Kinesin binding as a shared pathway underlying the genetic basis of male factor infertility and insomnia

Article

Author: Andersen, Monica L ; Adami, Luana N G ; Moysés-Oliveira, Mariana ; Tufik, Sergio

OBJECTIVETo study whether male factor infertility and insomnia share genetic risk variants and identify any molecular, cellular, and biologic interactions between these traits.DESIGNThe in silico study was performed. Two lists of genetic variants were manually curated through a literature review, one of those associated with male factor infertility and the other with insomnia. Genes were assigned to these variants to compose male factor infertility-associated (454 genes) and insomnia-associated (921 genes) gene lists.SETTINGNot applicable.PATIENT(S)Not applicable.INTERVENTION(S)Not applicable.MAIN OUTCOME MEASURE(S)Enrichment of biologic pathways and protein-protein interaction analysis.RESULT(S)Twenty-eight genes were common to both lists, representing a greater overlap than would be expected by chance. In the 28 genes contained in the intersection list, there was a significant enrichment of pathways related to kinesin binding. A protein-protein interaction analysis using the intersection list as input retrieved 25 nodes and indicated that two of them were kinesin-related proteins (PLEKHM2 and KCL1).CONCLUSION(S)The shared male factor infertility and insomnia genes, and the biologic pathways highlighted in this study, suggest that further functional investigations into the interplay between fertility and sleep are warranted.

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PLEKHM2

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