MTMR2 (myotubularin related protein 2)

2016-10-01  

Identity

HGNC
MTMR2
LOCATION
11q21
LOCUSID
8898
ALIAS
CMT4B,CMT4B1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8898
MIM: 603557
HGNC: 7450
Ensembl: ENSG00000087053

Variants:

dbSNP: 8898
ClinVar: 8898
TCGA: ENSG00000087053
COSMIC: MTMR2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000087053ENST00000346299Q13614
ENSG00000087053ENST00000352297Q13614
ENSG00000087053ENST00000352297A0A024R3B7
ENSG00000087053ENST00000393223Q13614
ENSG00000087053ENST00000393223A0A024R3B7
ENSG00000087053ENST00000409459Q13614
ENSG00000087053ENST00000409459A0A024R3B7
ENSG00000087053ENST00000444541C9JEX3

Expression (GTEx)

0
5
10
15
20
25
30
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
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the early endosome membraneREACTOMER-HSA-1660516
Synthesis of PIPs at the late endosome membraneREACTOMER-HSA-1660517

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
379076492023An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma.0
379076492023An integrative analysis reveals the prognostic value and potential functions of MTMR2 in hepatocellular carcinoma.0
324887272020Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.1
327673322020MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.3
324887272020Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.1
327673322020MTMR2 promotes the progression of NK/T cell lymphoma by targeting JAK1.3
311134612019MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFNγ/STAT1 signaling.21
311134612019MTMR2 promotes invasion and metastasis of gastric cancer via inactivating IFNγ/STAT1 signaling.21
281906462017Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.11
289343862017Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.14
281906462017Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.11
289343862017Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.14
274661802016SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.2
274661802016SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.2
233780272013Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes.8

Citation

Dessen P

MTMR2 (myotubularin related protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56235/mtmr2-(myotubularin-related-protein-2)