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FLASH GENE
Symbol NKX2-3 contributors: mct/npt - updated : 22-12-2015
HGNC name NK2 transcription factor related, locus 3 (Drosophila)
HGNC id 7836
Location 10q24.2      Physical location : 101.292.689 - 101.296.278
Synonym name
  • homeobox protein NKX2-3 homolog, mouse
  • NK-2 (Drosophila) homolog C
  • Synonym symbol(s) NKX2C, CSX3, NKX4-3
    DNA
    TYPE functioning gene
    STRUCTURE 3.59 kb     2 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2117 - 364 - Phiel (2001)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     mouthtongue   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text mesoderm, gut, branchial arches, lymphoid tissues, developing jaw, expressed regionally in the developing pharynx (Biben 2002)
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • conserved NK2 domain, at the N terminus, C terminal GIRAW motif
  • HOMOLOGY
    interspecies homolog to murine Nkx2.3
    homolog to Drosophila Nkx2.3
    Homologene
    FAMILY
  • NK-2 homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • potentially playing a role in cell type specification and/or maintenance of the differentiated phenotype
  • transcription factor that associates with serum-response factor during smooth muscle differentiation (Phiel 2001)
  • having a roles during pharyngeal organogenesis (Biben 2002)
  • CELLULAR PROCESS cell life, differentiation
    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
    tumoral       gain of function
    aberrantly activated NKL homeobox genes NKX2-3 in acute myeloid leukemia (AML), deregulating genes involved in megakaryocytic and erythroid differentiation processes
    Susceptibility to Crohn diseas
    Variant & Polymorphism SNP increasing risk of Crohn diseas (Franke 2009)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Nkx2.3 knock-out mice (Pabst,99 and 2000)