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FLASH GENE
Symbol HOXD11 contributors: mct/npt - updated : 16-03-2009
HGNC name homeobox D11
HGNC id 5134
Corresponding disease
PSDY2 polysyndactyly 2
Location 2q31.1      Physical location : 176.972.083 - 176.974.314
Synonym name
  • homeo box D11 (4F)
  • Hox-4.6, mouse, homolog of
  • homeobox protein Hox-D11
  • Synonym symbol(s) HOX4F, HOX4, Hox-4F
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    STRUCTURE 2.23 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see HOXD@
    Physical map
    KIAA1715 2q31 KIAA1715 LOC344191 2q31.2 similar to Homeobox even-skipped homolog protein 2 (EVX-2) HOXD13 2q31 homeo box D13 HOXD12 2q31 homeo box D12 HOXD11 2q31.1 homeo box D11 HOXD10 2q31 homeo box D10 HOXD9 2q31 homeo box D9 HOXD8 2q31 homeo box D8 HOXD4 2q31 homeo box D4 HOXD3 2q31 homeo box D3 HOXD1 2q31-q37 homeo box D1 LOC150978 2q31.2 similar to 60S acidic ribosomal protein P1 LOC129841 2q31.2 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) MTX2 2q24.3-q31 metaxin 2
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1463 35.1 338 - Boulet (2002)
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    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-4.6
    ortholog to murine Hoxd11
    homolog to C.elegans B0412.1
    Homologene
    FAMILY
  • Abd-B homeobox family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing an important role in morphogenesis in all multicellular organisms
  • may be playing a role in metanephric kidney development within the intermediate mesoderm (Mugford 2008)
  • suppresses the expression of HOXD10 and the retinoic acid synthetic enzyme, retinaldehyde dehydrogenase 2 (RALDH2) (Misra 2009)
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PSDY2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by aberrant promoter methylation in ovarian cancers (Cai 2007)
    constitutional   deletion    
    of the entire HOXD gene cluster or the 5' end of this cluster have been associated with severe limb and genital abnormalities
    tumoral fusion      
    to NUP98 in acute myeloid leukemia with t(2;11)(q31;p15)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS