PLEKHM2 (pleckstrin homology and RUN domain containing M2)

2014-08-01  

Identity

HGNC
LOCATION
1p36.21
LOCUSID
ALIAS
SKIP
FUSION GENES

Other Information

Locus ID:

NCBI: 23207
MIM: 609613
HGNC: 29131
Ensembl: ENSG00000116786

Variants:

dbSNP: 23207
ClinVar: 23207
TCGA: ENSG00000116786
COSMIC: PLEKHM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000116786ENST00000375793Q5VVD7
ENSG00000116786ENST00000375799Q8IWE5
ENSG00000116786ENST00000642363A0A2R8Y575

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
159054022005The intracellular fate of Salmonella depends on the recruitment of kinesin.92
264644842015PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.11

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)