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FLASH GENE
Symbol DLX6 contributors: npt/mct - updated : 18-10-2010
HGNC name distal-less homeobox 6
HGNC id 2919
Corresponding disease
DEL7Q21 chromosome 7q21 interstitial deletion
SHFM1 split hand and foot malformation 1
Location 7q21.3      Physical location : 96.635.289 - 96.640.351
Synonym name homeobox protein DLX-6
Synonym symbol(s) MGC125282, MGC125283, MGC125285, MGC125284
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
Physical map
PPP1R9A 7q21 protein phosphatase 1, regulatory (inhibitor) subunit 9A PON1 7q21.3 paraoxonase 1 PON3 7q21.3 paraoxonase 3 PON2 7q21.3 paraoxonase 2 ASB4 7q21-q22 ankyrin repeat and SOCS box-containing 4 PDK4 7q21.3 pyruvate dehydrogenase kinase, isoenzyme 4 LOC389533 7 LOC389533 DNCI1 7q21.3 dynein, cytoplasmic, intermediate polypeptide 1 SLC25A13 7q21.3 solute carrier family 25, member 13 (citrin) HCP18 7q21.3 cytochrome c, somatic pseudogene SHFM1 LOC392075 7 similar to Ser/Thr protein kinase PAR-1Balpha DLX6 7q21.3 distal-less homeo box 6 DLX5 7q21.3 distal-less homeo box 5 ACN9 7q22.1 ACN9 homolog (S. cerevisiae) LOC392076 7 similar to Rpl7a protein TAC1 7q21.3-q22.1 tachykinin, precursor 1 (substance K, substance P, neurokinin 1, neurokinin 2, neuromedin L, neurokinin alpha, neuropeptide K, neuropeptide gamma) ASNS 7q21.3 asparagine synthetase LOC389534 7 LOC389534 LOC389535 7 similar to hypothetical protein LOC286031 LOC389536 7 similar to seven transmembrane helix receptor LOC389537 7 similar to olfactory receptor GA_x6K02T2PVTD-14054886-14053957 LOC389538 7 similar to hypothetical protein MGC56855 OCM 7p13-p11 oncomodulin KPI2 7q22.1 oncomodulin MIST1 7q22.1 class II bHLH protein MIST1 DKFZP434B0335 7q22.1 DKFZP434B0335 protein BRI3 7q22.1 brain protein I3 LOC55971 7q22.1 insulin receptor tyrosine kinase substrate NPTX2 7q21.3-q22.1 neuronal pentraxin II DKFZp761L1417 7q22.1 hypothetical protein DKFZp761L1417 TRRAP 7q21.3-q22.1 transformation/transcription domain-associated protein SMURF1 7q21.1-q31.1 transformation/transcription domain-associated protein
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   
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivebonesubchondral  
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
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix, DNA binding domain
  • HOMOLOGY
    interspecies homolog to Drosophila distal less Dlx6
    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
  • 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
    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