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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PLEKHM2
pleckstrin homology and RUN domain containing M2
Chromosome 1 · 1p36.21
NCBI Gene: 23207Ensembl: ENSG00000116786.15HGNC: HGNC:29131UniProt: A0ABJ7H8D0
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingkinesin bindingGolgi organizationlysosome localizationtype 2 diabetes mellitusdiabetes mellitusinsomniacoronary artery disease
✦AI Summary

PLEKHM2 is a critical adaptor protein that regulates lysosomal trafficking and positioning through its interaction with the small GTPase ARL8B 1. It recruits kinesin-1 to lysosomal membranes, directing their movement toward microtubule plus ends and enabling peripheral localization 12. Beyond lysosomal dynamics, PLEKHM2 maintains Golgi apparatus organization 1 and drives polarization of cytolytic granules and microtubule-organizing centers during NK cell-mediated cytotoxicity 2. PLEKHM2 function is regulated by programmed ribosomal frameshifting, which generates an alternative protein isoform that relieves autoinhibition and enables ARL8-independent cellular trafficking 3. Both canonical and frameshifted proteins are necessary for normal cardiac contractility 3. Clinically, PLEKHM2 mutations cause early-onset dilated cardiomyopathy and left ventricular noncompaction through impaired autophagy and mitochondrial clearance 45. Loss of PLEKHM2 function leads to perinuclear lysosome accumulation, autophagy flux impairment, and accumulation of damaged mitochondria generating excessive reactive oxygen species 56. PLEKHM2 also plays roles in neuronal development and immune pathogen restriction 67, and has been identified as a potential genetic susceptibility marker for familial lung adenocarcinoma 8.

Sources cited
1
PLEKHM2 acts as an ARL8B effector, recruits kinesin-1 to lysosomes, and is required for Golgi organization
PMID: 22172677
2
PLEKHM2 is critical for NK cell cytotoxicity through granule polarization and MTOC positioning
PMID: 24088571
3
PLEKHM2 undergoes programmed ribosomal frameshifting generating an alternative isoform; both proteins necessary for cardiac function
PMID: 41134891
4
PLEKHM2 mutations cause recessive DCM and LVNC with abnormal lysosome localization and impaired autophagy
PMID: 26464484
5
PLEKHM2 deficiency impairs mitochondrial clearance, increases ROS levels, and decreases cardiac contractility in cardiomyocytes
PMID: 38490981
6
PLEKHM2 regulates neuronal autophagic flux and functional development
PMID: 36555735
7
PLEKHM2 functions in lysosome positioning toward cell periphery and autophagy-mediated pathogen restriction
PMID: 33619301
8
PLEKHM2 D134N mutation identified as potential genetic susceptibility marker for familial lung adenocarcinoma
PMID: 36781503
Disease Associationsⓘ20
type 2 diabetes mellitusOpen Targets
0.41Moderate
diabetes mellitusOpen Targets
0.26Weak
insomniaOpen Targets
0.26Weak
coronary artery diseaseOpen Targets
0.25Weak
autosomal recessive dilated cardiomyopathyOpen Targets
0.19Weak
dilated cardiomyopathyOpen Targets
0.19Weak
coronary atherosclerosisOpen Targets
0.09Suggestive
cardiomyopathyOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.05Suggestive
X-linked severe congenital neutropeniaOpen Targets
0.05Suggestive
inflammatory bowel disease (infantile ulcerative colitis) 31, autosomal recessiveOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
leukemiaOpen Targets
0.05Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.05Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.04Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KLC2Protein interaction99%KLC3Protein interaction98%ARL5BProtein interaction95%RAB9AProtein interaction90%RAB9BProtein interaction90%KLC1Protein interaction78%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
86%
Heart
71%
Brain
69%
Ovary
55%
Liver
32%
Gene Interaction Network
Click a node to explore
PLEKHM2KLC2KLC3ARL5BRAB9ARAB9BKLC1
PROTEIN STRUCTURE
Preparing viewer…
PDB8JCA · 1.65 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.09LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.74–1.09]
RankingsWhere PLEKHM2 stands among ~20K protein-coding genes
  • #11,582of 20,598
    Most Researched32
  • #11,053of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedPLEKHM2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
PLEKHM2 deficiency induces impaired mitochondrial clearance and elevated ROS levels in human iPSC-derived cardiomyocytes.
PMID: 38490981
Cell Death Discov · 2024
1.00
2
Lysosome repositioning as an autophagy escape mechanism by Mycobacterium tuberculosis Beijing strain.
PMID: 33619301
Sci Rep · 2021
0.90
3
Programmed ribosomal frameshifting during
PMID: 41134891
Sci Adv · 2025
0.80
4
PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.
PMID: 26464484
Hum Mol Genet · 2015
0.70
5
Dynamic interplay between RPL3- and RPL3L-containing ribosomes modulates mitochondrial activity in the mammalian heart.
PMID: 36882085
Nucleic Acids Res · 2023
0.60