MTMR2

MTMR2
Strwythurau PDB Human UniProt search: PDBe RCSB Rhestr o ddynodwyr PDB 1LW3, 1M7R, 1ZSQ, 1ZVR
Dynodwyr
Cyfenwau	MTMR2, CMT4B, CMT4B1, myotubularin related protein 2
Dynodwyr allanol	OMIM: 603557 HomoloGene: 22951 GeneCards: MTMR2
EC number	3.1.3.64
Patrwm RNA pattern Rhagor o gyfeiriadau
Ontoleg y genyn Gweithrediad moleciwlaidd • protein homodimerization activity • GO:0098519, GO:0098518 phosphatase activity • GO:0001948, GO:0016582 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 Cydrannau o'r gell • cytoplasm • synaptic membrane • cytosol • endosome • early endosome membrane • bilen • vacuolar membrane • synaptic vesicle • dendritic spine • axon • dendrite • extracellular exosome • cnewyllyn cell • GO:0097483, GO:0097481 postsynaptic density • intracellular membrane-bounded organelle • endosome membrane • cell projection • perinuclear region of cytoplasm Prosesau biolegol • negative regulation of endocytosis • phosphatidylinositol metabolic process • negative regulation of receptor catabolic process • myelin assembly • lipid metabolism • negative regulation of receptor internalization • GO:0016576 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 • GO:0098501, GO:0098502, GO:0006286 dephosphorylation • regulation of phosphatidylinositol dephosphorylation Sources:Amigo / QuickGO
Orthologau
Species	Bod dynol	Llygoden
Entrez	8898	n/a
Ensembl	ENSG00000087053	n/a
UniProt	Q13614	n/a
RefSeq (mRNA)	NM_001243571 NM_016156 NM_201278 NM_201281	n/a
RefSeq (protein)	NP_001230500 NP_057240 NP_958435 NP_958438	n/a
Lleoliad (UCSC)	n/a	n/a
PubMed search		n/a
Wicidata
Gweld/Golygu Bod dynol

Protein sy'n cael ei godio yn y corff dynol gan y genyn MTMR2 yw MTMR2 a elwir hefyd yn Myotubularin related protein 2 (Saesneg). Segment o DNA yw'r genyn, sy'n amgodio ffwythiant arbennig. Mae'r genyn yma wedi ei leoli ar yr edefyn ôl o gromosom dynol 11, band 11q21.

Cyfystyron

Yn aml mae gan enynnau lawer o gyfystyron. Mae hyn oherwydd eu bod yn aml yn cael eu darganfod gan nifer o bobl mewn cyd-destunau gwahanol heb wybod mai'r un genynnau oeddyn nhw. Hefyd mae gan wahanol gymunedau gwyddonol safonau gwahanol ar gyfer enwi genynnau. Dyma restr o gyfystyron ar gyfer y genyn MTMR2.

• CMT4B
• CMT4B1

Llyfryddiaeth

• "Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. ". Neurobiol Dis. 2007. PMID 17336078.
• "Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase. ". Proc Natl Acad Sci U S A. 2006. PMID 16410353.
• "A novel homozygous mutation in the MTMR2 gene in two siblings with 'hypermyelinating neuropathy'. ". J Peripher Nerv Syst. 2013. PMID 23781969.
• "Differential phosphorylation of the phosphoinositide 3-phosphatase MTMR2 regulates its association with early endosomal subtypes. ". J Cell Sci. 2013. PMID 23378027.
• "Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site.". J Biol Chem. 2011. PMID 21372139.