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FLASH GENE
Symbol DMRTA2 contributors: mct - updated : 13-02-2018
HGNC name DMRT-like family A2
HGNC id 13908
Location 1p32.3      Physical location : 50.883.228 - 50.889.141
Synonym name
  • doublesex- and mab-3-related transcription factor 5
    • Synonym symbol(s) HCNC13908, DMRT5
    DNA
    TYPE functioning gene
    STRUCTURE 5.90 kb     2 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3083 - 542 - 2014 25082981
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain     Homo sapiens
    Reproductivemale systemtestis   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    		a doublesex DM DNA binding domain
    HOMOLOGY
    interspecies homolog to Drosophila master sex regulator gene,doublesex
    Homologene
    FAMILY DMRT
    CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • is an important player in ventral mesencephalic neural fate specification
  • is a novel WNT-dependent transcription factor required for early cortical development and that it may regulate initial cortical patterning by promoting dorsal midline signaling center formation and thereby helping to establish the graded expression of the other transcription regulators of cortical identity
  • plays likely pivotal roles in the early development of the telencephalon via the formation of the cortical hem, a source of WNTs, and also in the maintenance of neural progenitors as a downstream of the WNT pathway
  • DMRTA2 appears to be necessary for proper differentiation of oogonia, prior to entry into meiosis
  • transcription factor key to the development of the dorsal telencephalon
  • plays an important role in maintaining neural progenitor cells (NPCs) in the cell cycle
  • is a novel regulator of the neuron-glia cell-fate switch in the developing hippocampus
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text sex differentiation
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • 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
  • DMRTA2 function is linked to the regulation of HES1 and other proneural genes, as demonstrated by genome-wide RNA-seq and direct binding of DMRTA2 to the HES1 genomic locus
  • link between DMRTA2 modulation of HES1 expression and the maintenance of NPCs during cortical development
  • LHX2 binds a highly conserved putative enhancer of DMRTA2, suggesting an evolutionarily conserved regulatory relationship between these factors
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation     loss of function
    leads to a novel disorder of cortical development with fronto-parietal pachygyria, agenesis of the corpus callosum and progressive severe microcephaly
    Susceptibility to Atrial fibrillation (AF)
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Dmrta2 null mutants demonstrated a dramatic reduction in medial cortical structures such as the cortical hem and the choroid plexus, and a complete loss of the hippocampus