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FLASH GENE
Symbol DLX6 contributors: npt/mct - updated : 02-04-2019
HGNC name distal-less homeobox 6
HGNC id 2919
DNA
TYPE functioning gene
STRUCTURE 5.06 kb     4 Exon(s)
10 Kb 5' upstream gene genomic sequence study
motif repetitive sequence
text structure multiple trinucleotide repeat in the first exons (CAG/CCG)
MAPPING cloned Y linked   status provisional
Map see EEC
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 1892 - 293 - - 7907794
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestivemouth    
Nervousnervespinal nervesciatic  
Reproductivefemale systemuterus    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebonesubchondral  
Epithelialbarrier liningendometrium   Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Reproductiveepithelial cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, fetal
Text
  • branchial arch, otic vesicle, frontonasal ectoderm, brain, bones
  • expressed in developing and mature cortical interneurons
  • IMPRINTING maternally
    text maternally imprinted in osteoblasts
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix, DNA binding domain
  • HOMOLOGY
    interspecies homolog to Drosophila distal less Dlx6
    intraspecies paralog to DLX5
    Homologene
    FAMILY
  • distal-less homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in forebrain and craniofacial development
  • acting as an intermediary between endothelin-1 signaling and HAND2 transcription during craniofacial morphogenesis
  • with DLX5, are required for development and function of somal innervating (parvalbumin(+)) neocortical interneurons
  • with DLX5 are functionally equivalent in the endochondral skeleton, in that the requirement for DLX5 and DLX6 function during chondrocyte hypertrophy can be satisfied with DLX5 alone
  • DLX5 and DLX6 expression determines uterine architecture and adenogenesis and is needed for implantation
  • DLX5 and DLX6 are quantitatively indistinguishable on a variety of natural cis-regulatory sequences in a heterologous cellular context but observed quantitatively different transcriptional outputs in cells that normally express these genes, suggesting differential interactions with co-evolved co-activators
  • DLX5/DLX6 expression is required during vertebrate posterior axis formation
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • directly associated with TP63
  • EDN1 regulates neural crest deployment and fate to form great vessels through DLX5/DLX6-independent mechanisms
  • cell & other
    REGULATION
    Other regulated by TP63 (TP63 binds to an enhancer element in the SHFM1 locus and this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development
    ASSOCIATED DISORDERS
    corresponding disease(s) SHFM1 , DEL7Q21
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in endometriotic lesions
    tumoral     --over  
    in endometriod adenocarcinomas
    Susceptibility to autistic spectrum disorder (ASD)
    Variant & Polymorphism other a G656A base change (R219H) associted with ASD
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Dlx5/Dlx6 double mutants exhibit hindlimb ectrodactyly
  • Dlx5/6-inactivation in the mouse results in a phenotype reminiscent of NTDs characterized by open thoracic and lumbar vertebral arches and failure of epaxial muscle formation at the dorsal midline