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FLASH GENE
Symbol DMRT3 contributors: mct/npt - updated : 30-03-2018
HGNC name doublesex and mab-3 related transcription factor 3
HGNC id 13909
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal DNA binding (DM)
  • a proline and serine-rich region
  • a functional NLS (nuclear localization signal) within the DM domain
    • HOMOLOGY
    interspecies homolog to Drosophila double sex
    homolog to C.elegans Mab3
    ortholog to F.rubripes
    ortholog to T.nigroviridis Dmrt3
    intraspecies paralog to DMRT1 and DMRT2
    Homologene
    FAMILY
  • DMRT family
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • implicated in sexual development, and also may be involved in development of non-gonadal tissues
  • DMRT3, induced NEUROG2 expression in the dorsal telencephalon
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • FOXG1 binds to mammalian-specific noncoding sequences to repress over 12 transcription factors expressed in early progenitors, including EBF2/3, DMRT3, DMRTA1, and EYA2
  • DMRTA2 upregulates DMRT3 expression and negatively regulates its own expression, which may stabilize the level of DMRTA2, and likely DMRTA2, together with DMRT3, regulate patterning of the cerebral cortex
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    of the cis-regulatory element for DMRT3 in humans may cause impaired development of the forebrain and gait abnormalities, resulting in spastic Cerebral palsy (CP)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS