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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
Location 9p24.3      Physical location : 976.963 - 991.732
Synonym name
  • testis-specific protein
  • DMRT-like family A3
    • Synonym symbol(s) DMRTA3, MGC142144
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 14.77 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map pter - D9S1779 - D9S1858 - DMRT1 - DMRT3 - DMRT2 - D9S129 - cen
    Authors Calvari (00)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - 1800 - 343 - 2002 11863363
    - - - 300 - 61 - 2002 11863363
    2 - 2200 - 472 - 2002 11863363
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebrain    Mus musculus
     spinal cord     Mus musculusFetal
    Reproductivemale systemtestis   
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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