MTMR3 (myotubularin related protein 3)

2007-04-01  

Identity

HGNC
LOCATION
22q12.2
LOCUSID
ALIAS
FYVE-DSP1,ZFYVE10
FUSION GENES

Other Information

Locus ID:

NCBI: 8897
MIM: 603558
HGNC: 7451
Ensembl: ENSG00000100330

Variants:

dbSNP: 8897
ClinVar: 8897
TCGA: ENSG00000100330
COSMIC: MTMR3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100330ENST00000323630G5E953
ENSG00000100330ENST00000333027Q13615
ENSG00000100330ENST00000351488Q13615
ENSG00000100330ENST00000351488A0A024R1I2
ENSG00000100330ENST00000401950Q13615
ENSG00000100330ENST00000406629Q13615
ENSG00000100330ENST00000445401C9JLU3

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Autophagy - animalKEGGko04140
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Autophagy - animalKEGGhsa04140
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 plasma membraneREACTOMER-HSA-1660499
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
200597462010Modulation of local PtdIns3P levels by the PI phosphatase MTMR3 regulates constitutive autophagy.67
97367721998Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.37
158406522005Analysis of phosphoinositide binding domain properties within the myotubularin-related protein MTMR3.32
187747182008PtdIns5P regulation through evolution: roles in membrane trafficking?30
118464052002Functional redundancy in the myotubularin family.21
231544682013Production of phosphatidylinositol 5-phosphate via PIKfyve and MTMR3 regulates cell migration.20
249438672014Brief Report: identification of MTMR3 as a novel susceptibility gene for lupus nephritis in northern Han Chinese by shared-gene analysis with IgA nephropathy.19
248402512014PIKfyve, MTMR3 and their product PtdIns5P regulate cancer cell migration and invasion through activation of Rac1.16
262403472015MTMR3 risk allele enhances innate receptor-induced signaling and cytokines by decreasing autophagy and increasing caspase-1 activation.12
267874662016The PtdIns3-phosphatase MTMR3 interacts with mTORC1 and suppresses its activity.7

Citation

Dessen P

MTMR3 (myotubularin related protein 3)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47037/mtmr3-(myotubularin-related-protein-3)