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FLASH GENE
Symbol DMRT2 contributors: np/mct - updated : 29-03-2020
HGNC name doublesex and mab-3 related transcription factor 2
HGNC id 2935
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N terminal DNA binding domain (DM)
  • a proline and serine-rich region
    • HOMOLOGY
    interspecies homolog to Drosophila double sex
    homolog to C.elegans MAB-3 related transcription factor 1
    intraspecies paralog to DMRT1 and DMRT3
    Homologene
    FAMILY
  • DMRT family
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    text colocalization with telomeric chromatin
    basic FUNCTION
  • involved in somitogenesis
  • essential function for DMRT2 in somite development
  • acts as a potent competitive inhibitor for telomeric DNA in addition to exerting an uncompetitive mode of inhibition
  • may be involved in telomerase regulation by the telomere substrate
  • may regulate telomerase at chromosome ends
  • may be released from the telomere, and bind and inhibit telomere-proximal telomerase molecules and prevent their access to the chromosomal end
  • promotes POT1 binding to telomeric single-stranded DNA by removing HNRNPA1
  • HNRNPA1, DMRT2 and POT1 act in concert to displace RPA1 from telomeric single-stranded DNA after DNA replication, and promote telomere capping to preserve genomic integrity
  • inhibits RPA1 displacement in early S phase, and its decline in late S phase may provide a window for RPA1 displacement
  • implicated in the regulation of telomere length and heterochromatin formation
  • functions as an epigenomic modulator in trans and as an essential regulator of telomeres in cis
  • ATF7 and DMRT2 play key roles in paternal stress-induced telomere shortening in the offspring
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    PAX3/DMRT2/MYF5 regulatory cascade operating in stem cells of the epaxial dermomyotome to initiate skeletal muscle formation
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule metal binding,
  • Zn2+
    • protein
  • telomerase ligand and natural direct inhibitor of human telomerase
  • potent inhibitor of the RPA1 displacing activity of HNRNPA1)
  • knockdown of MORF4L2, a component of the NuA4 histone acetyltransferase complex, reduced DMRT2 levels both globally and for telomere-bound DMRT2
  • direct and essential function of HSF1 in the transcriptional activation of DMRT2 and in telomere protection upon stress
  • subtelomeric CTCF facilitates telomeric DNA replication by promoting DMRT2 transcription
  • ARNTL plays a direct role in telomere homeostasis by regulating rhythms in DMRT2 and heterochromatin
  • DMRT2 can lead to the enrichment of CBX5 at telomeres to maintain heterochromatin
  • at telomeres, DMRT2 competes with telomeric DNA for ATRX binding, suppresses ATRX localization, and ensures telomeric stability
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SRA2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    mutations in DMRT2 are likely associated with a different (novel) subtype of SCD mainly characterized by severe rib anomalies but lacking clear segmentation defects of the vertebral bodies
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Dmrt2 knock-out mice exhibit severe rib and vertebral defects