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FLASH GENE
Symbol HOXA2 contributors: mct - updated : 16-06-2021
HGNC name homeobox A2
HGNC id 5103
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)