Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23207
MIM: 609613
HGNC: 29131
Ensembl: ENSG00000116786
Variants:
dbSNP: 23207
ClinVar: 23207
TCGA: ENSG00000116786
COSMIC: PLEKHM2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000116786 | ENST00000375793 | Q5VVD7 |
| ENSG00000116786 | ENST00000375799 | Q8IWE5 |
| ENSG00000116786 | ENST00000642363 | A0A2R8Y575 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Salmonella infection | KEGG | ko05132 |
| Salmonella infection | KEGG | hsa05132 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36717601 | 2023 | BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. | 0 |
| 36781503 | 2023 | Two germline mutations can serve as genetic susceptibility screening makers for a lung adenocarcinoma family. | 0 |
| 37349842 | 2023 | Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction. | 1 |
| 36717601 | 2023 | BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. | 0 |
| 36781503 | 2023 | Two germline mutations can serve as genetic susceptibility screening makers for a lung adenocarcinoma family. | 0 |
| 37349842 | 2023 | Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction. | 1 |
| 26464484 | 2015 | PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction. | 38 |
| 26464484 | 2015 | PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction. | 38 |
| 15905402 | 2005 | The intracellular fate of Salmonella depends on the recruitment of kinesin. | 115 |
| 15905402 | 2005 | The intracellular fate of Salmonella depends on the recruitment of kinesin. | 115 |
Citation
Dessen P
PLEKHM2 (pleckstrin homology and RUN domain containing M2)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54544/plekhm2-(pleckstrin-homology-and-run-domain-containing-m2)
