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FLASH GENE
Symbol HOXD4 contributors: mct/npt - updated : 22-12-2009
HGNC name homeobox D4
HGNC id 5138
Location 2q31.1      Physical location : 177.016.112 - 177.017.947
Synonym name
  • homeo box D4 (4B)
  • Hox-4.2, mouse, homolog of homeo box X
  • homeobox protein Hox-D4
    • Synonym symbol(s) HOX4B, HOX4, HHO.C13, HOX-5.1, Hox-4.2
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    STRUCTURE 1.84 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site
    text structure
  • a transcriptional start site in addition to a GC-rich positive regulatory element located 3prime to the initiation site (Kobrossy 2006)
    • MAPPING cloned Y linked N status confirmed
    Map see HOXD@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1298 - 255 - Cianetti (1990)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix domain
  • DNA binding domain
    • HOMOLOGY
    interspecies homolog to Drosophila Dfd and Scr
    ortholog to murine Hoxd4
    homolog to C.elegans C18B12.3
    Homologene
    FAMILY
  • ANTP homeobox family
  • "deformed" subfamily
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing an important role in morphogenesis in all multicellular organisms
  • playing a role in determining positional values in developing limb buds
  • regulating gene expression, morphogenesis, and differentiation
  • playing a key role in patterning the anterior-posterior body axis during embryogenesis
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • interaction with PAX6 (evolutionarily conserved role for PAX6 in antero-posterior-restricted expression of vertebrate HOXD4) (Nolte 2006)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    of the entire HOXD gene cluster or 5' end of this cluster associated with severe limb and genital abnormalities
    tumoral germinal mutation      
    in acute lymphoblastic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS