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
EC number	3.1.3.64
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q21 Start 95,821,766 bp[1] End 95,925,315 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A1 Start 13,748,410 bp[2] End 13,806,481 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm parotid gland tibia stromal cell of endometrium Achilles tendon corpus callosum bronchial epithelial cell islet of Langerhans right ventricle synovial joint Top expressed in spermatocyte spermatid secondary oocyte interventricular septum visual cortex yolk sac superior frontal gyrus cerebellar cortex lip abdominal wall More reference expression data BioGPS 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 Species Human Mouse Entrez 8898 77116 Ensembl ENSG00000087053 ENSMUSG00000031918 UniProt Q13614 Q9Z2D1 RefSeq (mRNA) NM_001243571 NM_016156 NM_201278 NM_201281 NM_023858 NM_001372573 NM_001373873 NM_001373874 NM_001373875 NM_001373876 NM_001373877 NM_001373878 RefSeq (protein) NP_001230500 NP_057240 NP_958435 NP_958438 NP_076347 NP_001359502 NP_001360802 NP_001360803 NP_001360804 NP_001360805 NP_001360806 NP_001360807 Location (UCSC) Chr 11: 95.82 – 95.93 Mb Chr 9: 13.75 – 13.81 Mb PubMed search [3] [4]
Wikidata
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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]

Function

This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. The protein also contains a GRAM domain.^[5] Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined.^[8]

Interactions

MTMR2 has been shown to interact with SBF1.^[9]