PLEKHM2 Gene - Pleckstrin Homology and RUN Domain Containing M2
Comprehensive genomic and functional analysis of PLEKHM2, a regulator of endosomal trafficking and autophagy.
Gene Information Card
| Symbol | PLEKHM2 |
|---|---|
| Full Name | Pleckstrin homology and RUN domain containing M2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.22 |
| NCBI Gene ID | 23207 ncbi.nlm.nih.gov/gene/23207 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q8IWE5 |
| OMIM ID | 609613 |
| HGNC ID | 29200 |
| Aliases | FLJ10718, KIAA1162, SKIP |
Description
PLEKHM2 (pleckstrin homology and RUN domain containing M2) encodes a protein involved in endosomal trafficking and autophagy. It acts as an adaptor that links the HOPS complex to Rab7-positive late endosomes/lysosomes, facilitating autophagosome-lysosome fusion. The gene is located on chromosome 1p36.22 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodegenerative disorders | Impaired autophagic flux due to PLEKHM2 dysfunction leads to accumulation of protein aggregates | PMID: 25720963 |
| Cancer (e.g., breast, lung) | Altered endosomal trafficking may promote tumor growth and metastasis | COSMIC database |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 15.1 | Medium |
| Kidney | 10.2 | Medium |
| Lung | 9.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.4 | High expression |
| HeLa | 14.2 | Medium expression |
| A549 | 11.6 | Medium expression |
| MCF7 | 9.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Potential loss of function |
| c.567_568insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to truncated protein and loss of adaptor function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense mutations in the RUN domain may interfere with Rab7 binding, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • endosomal transport | • autophagosome maturation |
| • protein binding | • Rab GTPase binding |
| • cytoplasm |
Pathways
• Autophagy - animal
• Endocytosis
• Lysosome
Protein Summary
The PLEKHM2 protein (UniProt Q8IWE5) contains an N-terminal RUN domain and a C-terminal pleckstrin homology (PH) domain. It localizes to late endosomes and lysosomes, where it interacts with Rab7 and the HOPS complex to promote autophagosome-lysosome fusion. The protein is 673 amino acids long and has a molecular weight of approximately 75 kDa.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLEKHM2 Knockout HEK293 Cell Line | EDJ-KQ7890 | Human | 23207 | Details Get a Quote |
| PLEKHM2 Knockout HeLa Cell Line | EDJ-KQ32158 | Human | 23207 | Details Get a Quote |
| PLEKHM2 Knockout A-549 Cell Line | EDJ-KQ33486 | Human | 23207 | Details Get a Quote |
| PLEKHM2 Knockout HCT 116 Cell Line | EDJ-KQ33487 | Human | 23207 | Details Get a Quote |
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