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Protein-coding gene in the species Homo sapiens
phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene. This gene is a member of the myotubularin family and encodes a putative
MTMR2
Protein domain
lipids. GRAMD1A; GRAMD1B; GRAMD1C; GRAMD2A; GRAMD2B; GRAMD4; MTM1; MTMR1; MTMR2; NCOA7; NSMAF; OXR1; SBF1; SBF2; TBC1D8; TBC1D8B; TBC1D9; TBC1D9B; WBP2;
GRAM_domain
Peripheral nervous system disorders
GDAP1 8q21.11 Autosomal recessive Allelic with subtype CMTRIA CMT4B1 601382 MTMR2 11q21 Autosomal recessive CMT4B2 604563 SBF2 11p15.4 Autosomal recessive
Charcot–Marie–Tooth disease classifications
Charcot–Marie–Tooth_disease_classifications
Protein-coding gene in the species Homo sapiens
PMID 11275328. Kim SA, Taylor GS, Torgersen KM, Dixon JE (2002). "Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and
MTMR1
Chemical compound
turnover involves the myotubularin family of phosphatases. Myotubularin 1 and MTMR2 dephosphorylate the 3-position of PtdIns(3,5)P2; therefore, the product
Phosphatidylinositol 3,5-bisphosphate
Phosphatidylinositol_3,5-bisphosphate
Catalytically deficient enzymes
conventional phosphatases MTMR13 binds and promotes lipid phosphatase activity of MTMR2 Regulation of protein localisation in a cell STYX acts as a nuclear anchor
Pseudoenzyme
Protein domain
myotubularin-related proteins have been associated with disease. MTM1; MTMR1; MTMR2; MTMR3; MTMR4; MTMR6; MTMR7; MTMR8; MTMR9; MTMR10; MTMR11; MTMR12; MTMR14;
Myotubularin
Protein-coding gene in the species Homo sapiens
et al. (2003). "Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form
SBF2
Protein-coding gene in the species Homo sapiens
humans is encoded by the SBF1 gene. SBF1 has been shown to interact with MTMR2 and SUV39H1. GRCh38: Ensembl release 89: ENSG00000100241 – Ensembl, May
SBF1
HGNC:27339; Q8NCU8 9991 MTM1 HGNC:7448; Q13496 9992 MTMR1 HGNC:7449; Q13613 9993 MTMR2 HGNC:7450; Q13614 9994 MTMR3 HGNC:7451; Q13615 9995 MTMR4 HGNC:7452; Q9NYA4
List of human protein-coding genes 5
List_of_human_protein-coding_genes_5
Concordantly, genetic ablation of the myotubularin-related protein 2 (MTMR2) causes elevation of cellular PtdIns(3,5)P2 and a decrease of PtdIns5P.
Phosphatidylinositol 5-phosphate
Phosphatidylinositol_5-phosphate
disease type 4A; 214400; GDAP1 Charcot–Marie–Tooth disease type 4B1; 601382; MTMR2 Charcot–Marie–Tooth disease type 4B2; 604563; SBF2 Charcot–Marie–Tooth disease
List_of_OMIM_disorder_codes
Protein complex involved in cilium biogenesis
Stuckey, J.A. (Dec 2003) Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. Molecular
BBSome
MTMR2
MTMR2
MTMR2
MTMR2
Girl/Female
Arthurian Legend
Gawain's wife.
Girl/Female
Hindu, Indian
Rose
Boy/Male
Tamil
Venkatswamy | வேநà¯à®•à®¾à®¤à¯à®¸à¯à®µà®¾à®®à¯€Â Â
Venkataravanaswamy
Girl/Female
Biblical
Holiness.
Boy/Male
Hindu
Holy place, Sacred water, Place of pilgrimage
Boy/Male
Bengali, Gujarati, Hindu, Indian, Kannada, Malayalam, Marathi, Telugu
Sunbeam
Surname or Lastname
English
English : habitational name from either of two places called Whetstone, in Leicestershire and Greater London (formerly in Middlesex), or from Wheston in Derbyshire. All are named with Old English hwetstÄn ‘whetstone’ and are sited in areas that provided stone suitable for whetstones, stones used to sharpen knives and blades.Americanized form of German Wettstein.
Surname or Lastname
English
English : variant of Whitsett.
Female
Italian
Feminine form of Italian Xaviero, XAVIERA means "a new house."
Boy/Male
Muslim
Slave of the one who gives life and sustains it
MTMR2
MTMR2
MTMR2
MTMR2
MTMR2