MTMR2

MTMR2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1LW3, 1M7R, 1ZSQ, 1ZVR
Identifiers
Aliases	MTMR2, CMT4B, CMT4B1, myotubularin related protein 2
External IDs	OMIM: 603557; MGI: 1924366; HomoloGene: 22951; GeneCards: MTMR2; OMA:MTMR2 - orthologs
EC number	3.1.3.64
Gene location (Human)
Chr.	Chromosome 11 (human)
End	95,925,315 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	13,806,481 bp
RNA expression pattern
	Top expressed in
	sperm; ; parotid gland; ; cartilage tissue; ; tibia; ; buccal mucosa cell; ; stromal cell of endometrium; ; Achilles tendon; ; corpus callosum; ; Epithelium of choroid plexus; ; bronchial epithelial cell;
	Top expressed in
	spermatocyte; ; zygote; ; genital tubercle; ; tail of embryo; ; spermatid; ; secondary oocyte; ; ventricular zone; ; right kidney; ; interventricular septum; ; visual cortex;
	More reference expression data
	; ; ; ;
	More reference expression data
Gene ontology
Molecular function	protein homodimerization activity; phosphatase activity; protein binding; protein tyrosine phosphatase activity; phosphatidylinositol phosphate phosphatase activity; hydrolase activity; protein tyrosine/serine/threonine phosphatase activity; phosphatidylinositol-3-phosphatase activity; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;
Cellular component	cytoplasm; synaptic membrane; cytosol; endosome; early endosome membrane; membrane; vacuolar membrane; synaptic vesicle; dendritic spine; axon; dendrite; extracellular exosome; nucleus; postsynaptic density; intracellular membrane-bounded organelle; endosome membrane; cell projection; perinuclear region of cytoplasm;
Biological process	negative regulation of endocytosis; phosphatidylinositol metabolic process; negative regulation of receptor catabolic process; myelin assembly; lipid metabolism; negative regulation of receptor internalization; protein dephosphorylation; neuron development; protein tetramerization; negative regulation of excitatory postsynaptic potential; dendritic spine maintenance; phosphatidylinositol dephosphorylation; positive regulation of early endosome to late endosome transport; phosphatidylinositol biosynthetic process; peptidyl-tyrosine dephosphorylation; negative regulation of myelination; inositol phosphate dephosphorylation; dephosphorylation; regulation of phosphatidylinositol dephosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	8898
	77116
	ENSG00000087053
	ENSMUSG00000031918
	Q13614
	Q9Z2D1
	NM_001243571; NM_016156; NM_201278; NM_201281
NM_023858; NM_001372573; NM_001373873; NM_001373874; NM_001373875;
	NM_001373876; NM_001373877; NM_001373878
	NP_001230500; NP_057240; NP_958435; NP_958438
NP_076347; NP_001359502; NP_001360802; NP_001360803; NP_001360804;
	NP_001360805; NP_001360806; NP_001360807
	Wikidata
View/Edit Human	View/Edit Mouse

Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.^[5]^[6]^[7]^[8]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000087053 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000031918 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "RecName: Full=Myotubularin-related protein 2; AltName: Full=Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; AltName: Full=Phosphatidylinositol-3-phosphate phosphatase". Retrieved March 7, 2020.
^ Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (Jul 1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast". Nat. Genet. 13 (2): 175–82. doi:10.1038/ng0696-175. PMID 8640223. S2CID 30028223.
^ Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL (Dec 1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum. Mol. Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772.
^ "Entrez Gene: MTMR2 myotubularin related protein 2".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000087053 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000031918 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[Q13614.4-5] "RecName: Full=Myotubularin-related protein 2; AltName: Full=Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; AltName: Full=Phosphatidylinositol-3-phosphate phosphatase". Retrieved March 7, 2020.

[pmid8640223-6] Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (Jul 1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast". Nat. Genet. 13 (2): 175–82. doi:10.1038/ng0696-175. PMID 8640223. S2CID 30028223.

[pmid9736772-7] Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL (Dec 1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum. Mol. Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772.

[entrez-8] "Entrez Gene: MTMR2 myotubularin related protein 2".

[1]

[2]

[3]

[4]

[5]

[6]

[7]

[8]