MTMR4 (myotubularin related protein 4)

2012-09-01  

Identity

HGNC
LOCATION
17q22
LOCUSID
ALIAS
FYVE-DSP2,ZFYVE11
FUSION GENES

Other Information

Locus ID:

NCBI: 9110
MIM: 603559
HGNC: 7452
Ensembl: ENSG00000108389

Variants:

dbSNP: 9110
ClinVar: 9110
TCGA: ENSG00000108389
COSMIC: MTMR4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000108389ENST00000323456Q9NYA4
ENSG00000108389ENST00000579921J3QKV8
ENSG00000108389ENST00000579925J3QR65
ENSG00000108389ENST00000582390J3KT95
ENSG00000108389ENST00000582663J3QRJ2
ENSG00000108389ENST00000583243J3QS98
ENSG00000108389ENST00000583656J3QLB9

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Autophagy - animalKEGGko04140
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Autophagy - animalKEGGhsa04140
Metabolic pathwaysKEGGhsa01100
Signal TransductionREACTOMER-HSA-162582
Signaling by TGF-beta Receptor ComplexREACTOMER-HSA-170834
TGF-beta receptor signaling activates SMADsREACTOMER-HSA-2173789
Downregulation of TGF-beta receptor signalingREACTOMER-HSA-2173788
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

References

Pubmed IDYearTitleCitations
97367721998Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.37
207363092010The myotubularin phosphatase MTMR4 regulates sorting from early endosomes.20
200613802010MTMR4 attenuates transforming growth factor beta (TGFbeta) signaling by dephosphorylating R-Smads in endosomes.15
231506752013Myotubularin-related protein 4 (MTMR4) attenuates BMP/Dpp signaling by dephosphorylation of Smad proteins.10
191256952009The inositol phosphatase MTMR4 is a novel target of the ubiquitin ligase Nedd4.9
276259942016MTMR4 Is Required for the Stability of the Salmonella-Containing Vacuole.5
193293422009Phosphoinositide cycle gene polymorphisms affect the plasma lipid profile in the Quebec Family Study.3
256598912015Myotubularin-related proteins 3 and 4 interact with polo-like kinase 1 and centrosomal protein of 55 kDa to ensure proper abscission.3
251959102014Crystallization and preliminary X-ray crystallographic analysis of the PH-GRAM domain of human MTMR4.0

Citation

Dessen P

MTMR4 (myotubularin related protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2012-09-01

Online version: http://atlasgeneticsoncology.org/gene/52888/mtmr4-(myotubularin-related-protein-4)