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FLASH GENE
Symbol HOXD10 contributors: npt/mct - updated : 17-12-2009
HGNC name homeobox D10
HGNC id 5133
Corresponding disease
CVT congenital vertical talus
PSDY2 polysyndactyly 2
Location 2q31.1      Physical location : 176.981.491 - 176.984.669
Synonym name
  • homeo box D10 (4D)
  • homeo box 4D
    • Synonym symbol(s) HOX4D, HOX4, HXDA, HOX4E, Hox-4.4
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    STRUCTURE 3.18 kb     2 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
    2 - 1814 - 340 - Redline (1992)
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
     reproductive tract   predominantly
    Nervousbrain    
    Reproductivefemale systemuterus  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text developing limb buds
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal portion of the activation domain contains several consensus sequence elements also found in other mammalian AbdB family genes
  • helix-turn-helix, DNA binding domain
    • HOMOLOGY
    interspecies homolog to murine Hox-4.5
    Homologene
    FAMILY
  • Abd-B homeobox family
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in limb morphogenesis
  • may play a continuing role in adult genitourinary tract function (Redline 1992)
  • has tumor-suppressive functions for mammary epithelial cells (Carrio 2005)
  • positively regulating microRNA-7 (miR-7) (Reddy 2008)
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein interacting with HOXD9 (cross-regulatory interactions between these genes might be essential for their proper expression) (Zappavigna 1991)
    cell & other
    REGULATION
    repressed by HOXD11 (HOXD11 suppresses the expression of HOXD10 and the retinoic acid synthetic enzyme, retinaldehyde dehydrogenase 2 RALDH2) (Misra 2009)
    ASSOCIATED DISORDERS
    corresponding disease(s) PSDY2 , CVT
    Susceptibility isolated congenital vertical talus
    Variant & Polymorphism other M319K mutation in a family with isolated congenital vertical talus (Dobbs 2006)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS