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Symbol HOXD12 contributors: mct/npt - updated : 18-12-2009
HGNC name homeobox D12
HGNC id 5135
Corresponding disease
PSDY2 polysyndactyly 2
Location 2q31.1      Physical location : 176.964.529 - 176.965.488
Synonym name
  • homeo box D12 (4H)
  • Hox-4.7, mouse, homolog of
  • Synonym symbol(s) HOX4H, HXDC
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    STRUCTURE 0.96 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see HOXD@
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 813 - 270 - Shen (1997)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    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-4.7
    Homologene
    FAMILY
  • ABD-B homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION unknown
    CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to HOD13 during mouse limb development
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PSDY2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    higher in progesterone receptor-positive cancer tissues than negative cancer tissues (Makiyama 2005)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS