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FLASH GENE
Symbol HOXB5 contributors: mct - updated : 24-02-2015
HGNC name homeobox B5
HGNC id 5116
Location 17q21.32      Physical location : 46.668.619 - 46.671.103
Synonym name
  • homeo box B5(2A)
  • homeobox protein Hu-1
  • homeobox protein HHO.C10
    • Synonym symbol(s) HOX2A, HHO.C10, Hox2.1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 2.48 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see HOXB@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1830 - 269 - -
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Respiratorylung     Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryepithelial cell Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • helix-turn-helix, DNA binding domain
    • HOMOLOGY
    interspecies homolog to murine Hox-2.1
    homolog to Drosophila Scr
    intraspecies paralog to HOXA5
    Homologene
    FAMILY
  • Antp homeobox family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • involved in the positioning of the mouse upper limb bud
  • HOXB5 in coordination with other transcription factors mediates RET expression
  • HOXB5 and PHOX2B, regulating enteric neural crest cells (ENCCs) proliferation, migration and differentiation could be risk factors for Hirschsprung disease (HSCR)
  • role in lung formation, the latter being involved in branching morphogenesis, goblet cell specification, and postnatal air space structure, revealing partial functional redundancy with HOXA5
  • HOXA5 and HOXB5 paralog genes shared some functions during lung morphogenesis, but HOXA5 playing a predominant role
  • is required for forelimb anterior patterning
  • played a role in the neural crest (NC) development
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • HOXB5 binds to the promoter region 5prime upstream of the binding site of NKX2-1 and regulates RET expression
  • interacts with promyelocytic leukemia zinc finger (ZBTB16) biochemically and genetically to restrict SHH expression
  • regulates RET transcription, and perturbations in transcriptional regulation by HOXB5 caused reduced RET expression and defective enteric nervous system development
  • binding of HOXB5 to FOXD3 promoter (HOXB5 regulated the neural crest (NC) development by directly inducing FOXD3)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    enhances blood vessel perfusion by up-regulation of CCL2 and IL6 as well as in enhanced leucocyte infiltration and blood vessel remodelling
    constitutional   deletion    
    leads to anterior forelimb defects resulting from derepression of SHH expression
    tumoral   amplification    
    in oral squamous cell carcinoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS