MTMR14
Identifiers
Aliases	MTMR14, C3orf29, myotubularin related protein 14
External IDs	OMIM: 611089 MGI: 1916075 HomoloGene: 11203 GeneCards: MTMR14
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p25.3 Start 9,649,433 bp[1] End 9,702,393 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 E3 Start 113,214,804 bp[2] End 113,258,353 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in monocyte blood gastrocnemius muscle bone marrow cells left ventricle spleen lymph node Achilles tendon upper lobe of left lung right lung Top expressed in secondary oocyte spermatid spermatocyte ascending aorta blood ganglionic eminence yolk sac endocardial cushion thymus neural tube More reference expression data BioGPS 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 Species Human Mouse Entrez 64419 97287 Ensembl ENSG00000163719 ENSMUSG00000030269 UniProt Q8NCE2 Q8VEL2 RefSeq (mRNA) NM_001077525 NM_001077526 NM_022485 NM_026849 NM_001362182 NM_001362183 NM_001362185 RefSeq (protein) NP_001070993 NP_001070994 NP_071930 NP_081125 NP_001349111 NP_001349112 NP_001349114 Location (UCSC) Chr 3: 9.65 – 9.7 Mb Chr 6: 113.21 – 113.26 Mb PubMed search [3] [4]
Wikidata
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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]

Clinical significance

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