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77116 Mtmr2

77116

Mtmr2

myotubularin related protein 2

protein-coding

Mus musculus

基因描述

Type Description
Definition myotubularin related protein 2

研究结论

Date Results Publications
2019-07-06 12:09:00 we identified a PI(3,5)P2 binding region in Piezo2, but not Piezo1, that confers sensitivity to Mtmr2 as indicated by functional analysis of a domain-swapped Piezo2 mutant. Altogether, our results propose local PI(3,5)P2 modulation via Mtmr2 in the vicinity of Piezo2 as a novel mechanism to dynamically control Piezo2-dependent mechanotransduction in peripheral sensory neurons. 29521261
2018-12-22 10:03:00 analysis of epistasis between Mtm1 and Dnm2 reveal possibilities for DNM2 knockdown as a therapeutic approach for X-linked centronuclear myopathy (XLCNM), or myotubular myopathy 28589938
2018-01-27 11:46:00 Expression of several MTMR2 isoforms ameliorates the myopathic phenotype owing to MTM1 loss, with increased muscle force, reduced myofiber atrophy, and reduction of the intracellular disorganization hallmarks associated with myotubular myopathy. 28934386
2013-09-07 11:51:00 Mtmr2 and Mtmr13 depend upon each other to achieve wild-type levels of protein expression. Mtmr2 stabilizes Mtmr13 on membranes, indicating that the Mtmr13 pseudophosphatase is regulated by its catalytically active binding partner. 23297362
2012-04-21 10:38:00 data indicate that Mtmr2 and Mtmr13/Sbf2 play critical roles in the sorting and modulation of cellular signalling which are likely to be disturbed in Charcot-Marie-Tooth disease type 4B 19912440

名称对应

Type IDs
Synonymous 6030445P13Rik
Gene
UniProtKB-ID: MTMR2_MOUSE, Q6P572_MOUSE
UniprotKB: Q9Z2D1, Q6P572
UniParc: UPI000022625E, UPI000019329A
EMBL: CH466522, AY055832, AF073880, CT010488, BC063050
Ensembl: ENSMUSG00000031918
KO: mmu:77116
Nucleutide sequences
EMBL-CDS: AAL14198.1, EDL24975.1, AAC80002.1, AAH63050.1
Ensembl_TRS: ENSMUST00000034396, ENSMUST00000155679
Protein sequencees
Ensembl_PRO: ENSMUSP00000034396, ENSMUSP00000115906
RefSeq: NP_001360804.1, NP_076347.3, XP_036011300.1, XP_036011299.1, NP_001360802.1, NP_001360803.1, NP_001360807.1, NP_001360805.1, NP_001360806.1, NP_001359502.1
Others
UniRef100: UniRef100_Q9Z2D1
UniRef90: UniRef90_Q9Z2D1
UniRef50: UniRef50_Q9Z2D1
UniGene: Mm.210405
CCDS: CCDS22818.3

全选

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