MTMR14

MTMR14
Identifiers
Aliases	MTMR14, C3orf29, myotubularin related protein 14
External IDs	OMIM: 611089; MGI: 1916075; HomoloGene: 11203; GeneCards: MTMR14; OMA:MTMR14 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	9,702,393 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	113,258,353 bp
RNA expression pattern
	Top expressed in
	monocyte; ; granulocyte; ; apex of heart; ; blood; ; gastrocnemius muscle; ; right auricle; ; muscle of thigh; ; bone marrow cells; ; left ventricle; ; spleen;
	Top expressed in
	zygote; ; primary oocyte; ; secondary oocyte; ; spermatid; ; granulocyte; ; spermatocyte; ; epiblast; ; tail of embryo; ; Gonadal ridge; ; genital tubercle;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein tyrosine phosphatase activity; protein binding; hydrolase activity; phosphatidylinositol-3-phosphatase activity; protein serine/threonine phosphatase activity; phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity;
Cellular component	ruffle; perinuclear region of cytoplasm; cytoplasm; cytosol;
Biological process	phosphatidylinositol biosynthetic process; peptidyl-tyrosine dephosphorylation; macroautophagy; dephosphorylation; protein dephosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	64419
	97287
	ENSG00000163719
	ENSMUSG00000030269
	Q8NCE2
	Q8VEL2
	NM_001077525; NM_001077526; NM_022485
	NM_026849; NM_001362182; NM_001362183; NM_001362185
	NP_001070993; NP_001070994; NP_071930
	NP_081125; NP_001349111; NP_001349112; NP_001349114
	Wikidata
View/Edit Human	View/Edit Mouse

Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.^[5]

Function

Expression of Mtmr14 increased with myotubule formation and differentiation. MTMR14 is a phosphatidylinositol-3-phosphatase that dephosphorylates the same substrates as myotubularin, PtdIns(3)P and PtdIns(3,5)P₂.^[6]

Mutations in the MTMR14 gene are associated with myotubular myopathy.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163719 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030269 – 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.
^ Alonso A, Sasin J, Bottini N, Friedberg I, Friedberg I, Osterman A, Godzik A, Hunter T, Dixon J, Mustelin T (June 2004). "Protein tyrosine phosphatases in the human genome". Cell. 117 (6): 699–711. doi:10.1016/j.cell.2004.05.018. PMID 15186772. S2CID 18072568.
^ ^a ^b Tosch V, Rohde HM, Tronchère H, Zanoteli E, Monroy N, Kretz C, Dondaine N, Payrastre B, Mandel JL, Laporte J (November 2006). "A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy". Hum. Mol. Genet. 15 (21): 3098–106. doi:10.1093/hmg/ddl250. PMID 17008356.

Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing". Genome Res. 7 (4): 353–8. doi:10.1101/gr.7.4.353. PMC 139146. PMID 9110174.
Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Simpson JC, Wellenreuther R, Poustka A, et al. (2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.

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