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FLASH GENE
Symbol MTMR14 contributors: mct/npt - updated : 17/09/2008
HGNC name myotubularin related protein 14
HGNC id 26190
Location 3p25.3      Physical location : 9.691.116 - 9.744.078
Synonym name
  • HCV NS5A-transactivated protein 4 splice variant A-binding protein 1
  • NS5ATP4ABP1
  • egg-derived tyrosine phosphatase homolog (Drosophila)
  • jumpy
  • chromosome 3 open reading frame 29
  • Synonym symbol(s) C3orf29, FLJ22405, FLJ90311, JUMPY, hEDTP
    EC.number 3.1.3.-
    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