MTMR2 (myotubularin related protein 2)

2016-10-01  

Identity

HGNC
LOCATION
11q21
LOCUSID
ALIAS
CMT4B,CMT4B1
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
129255732003Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases.68
184299272008Endosomal phosphoinositides and human diseases.63
146905942003Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome.56
126687582003Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase.47
159986402005The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.39
164103532006Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase.37
118353752002Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.33
187747182008PtdIns5P regulation through evolution: roles in membrane trafficking?30
178807512007Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.22
118464052002Functional redundancy in the myotubularin family.21

Citation

Dessen P

MTMR2 (myotubularin related protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56235/mtmr2