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FLASH GENE
Symbol HOXA2 contributors: mct - updated : 16-06-2021
HGNC name homeobox A2
HGNC id 5103
Corresponding disease
MCROT1 microtia-anotia 1
Location 7p15.2      Physical location : 27.139.973 - 27.142.394
Synonym name
  • homeo box A2
  • homeobox protein HOX-A2
  • homeobox protein Hox-1K
    • Synonym symbol(s) HOX1K, HXA2
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    STRUCTURE 2.42 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map see HOXA@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1791 - 376 - 2003 12853948
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrineadrenal gland   highly
    Lymphoid/Immunelymph node   highly
    Reproductivemale systemprostate   
    Urinarykidney    
    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-1.11
    homolog to Drosophila pb
    Homologene
    FAMILY
  • ANTP homeobox family
  • proboscipedia subfamily
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • involved in the placement of hindbrain segments in the proper location along the anterior-posterior axis during development
  • displays an anti-chondrogenic activity that is distinct from its patterning function
  • DNA-binding transcription factor which may regulate gene expression, morphogenesis, and differentiation
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TLX1, SIX2 (loss-of-function of TLX1 leads to loss of SIX2 expression and loss-of-function of HOXA2 leads to expanded SIX2 expression)
  • MEOX1 can specifically bind the DNA sequences recognized by HOXA2 on its functional target genes
  • HOXA2 binds to PCP4 chromatin and regulates PCP4 expression in the second arch
  • UBAC1 regulates HOXA2 by promoting its relocation to the cytoplasm
  • HOXA2 interacts with the RING-finger type E3 ubiquitin ligase RCHY1 and induces its proteasomal degradation
  • HOXA2 may regulate palate development by inhibiting osteogenic differentiation of palatal mesenchyme via modulating BMP signaling
  • PPP1CB and UBAC1 together inhibit the activity of HOXA2 by activating its nuclear export, but favored HOXA2 de-ubiquitination and stabilization thereby establishing a store of HOXA2 in the cytoplasm
    • cell & other
    REGULATION
    repressed by CHD8 that represses ATRA mediated HOXA2 gene expression
    ASSOCIATED DISORDERS
    corresponding disease(s) MCROT1
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Persistent Hoxa2 expression in chondrogenic cells resulted in overall chondrodysplasia with delayed cartilage hypertrophy, mineralization, and ossification but without proliferation defects (Massip 2007)