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FLASH GENE
Symbol MTMR14 contributors: mct/npt - updated : 17/09/2008
HGNC name myotubularin related protein 14
HGNC id 26190
DNA
TYPE functioning gene
STRUCTURE 52.93 kb     18 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
18 - 2358 - 598 - Tosch (2006)
19 - 650 72.2 650 - Tosch (2006)
17 - 2225 - 538 - Tosch (2006)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immunespleen   highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • protein-tyrosine phosphatase family
  • non-receptor class myotubularin subfamily
  • CATEGORY receptor membrane tyrosine phosphatase
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    intracellular,nuclear envelope
    basic FUNCTION
  • cooperates with myotubularin to regulate the level of phosphoinositides in skeletal muscle
  • lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate(PtdIns3P) and PtdIns(3,5)P2
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    heterozygous missense mutation, modifier of centronuclear myopathy
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS