PLEKHM2 (pleckstrin homology and RUN domain containing M2)

2014-08-01   Dessen P  

Identity

HGNC
PLEKHM2
LOCATION
1p36.21
LOCUSID
23207
ALIAS
SKIP
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
367176012023BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.0
367815032023Two germline mutations can serve as genetic susceptibility screening makers for a lung adenocarcinoma family.0
373498422023Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.1
367176012023BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain.0
367815032023Two germline mutations can serve as genetic susceptibility screening makers for a lung adenocarcinoma family.0
373498422023Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.1
264644842015PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.38
264644842015PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.38
159054022005The intracellular fate of Salmonella depends on the recruitment of kinesin.115
159054022005The 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)