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FLASH GENE
Symbol HOXD13 contributors: mct/pgu - updated : 29-03-2017
HGNC name homeobox D13
HGNC id 5136
Corresponding disease
BDD brachydactyly type D/E
PSDY2 polysyndactyly 2
SDTY5 syndactyly with metacarpal and metatarsal fusion type 5
Location 2q31.1      Physical location : 176.957.531 - 176.960.666
Synonym name
  • homeo box D13
  • homeo box 4I
  • synpolydactyly (syndactyly type II)
    • Synonym symbol(s) HOX4I, SPD, HXDD, BDSD, BDE
    DNA
    TYPE functioning gene
    SPECIAL FEATURE arranged in tandem, component of a cluster
    STRUCTURE 3.13 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 - 2341 - 343 - 1996 8817328
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain    
    Reproductivemale systemprostate   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • integrity of the N-terminal 31 AAs of HOXD13, excluding the polyalanine tract, is crucial to the stability of the protein
  • helix-turn-helix, DNA binding domain
  • two serine stretches and one alanine stretch
    • HOMOLOGY
    interspecies homolog to murine Hoxd13 (95.3pc)
    homolog to rattus Hoxd13 (95.3pc)
    Homologene
    FAMILY
  • Abd-B family of homeobox protein
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • specific transcription factor which is part of a developmental regulatory system that provides cells with specific positional identities on the anterior-posterior axis
  • may regulate the expression of FHL1 in the development of idiopathic congenital clubfoot
  • promotes pre-replication complex proteins assembly at origins and stimulates DNA synthesis
  • pivotal role of HOXA13 and HOXD13 proteins in the transition from a proximal to a distal type of HOXD transcriptional regulation
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text
  • anterior/posterior axis formation
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
  • transactivating EPHA7 promoter
    • RNA
    small molecule
    protein
  • interacting with CDC6
  • interacting with GMNN
  • unappreciated function of HOXD13 in regulating digit number through its interaction with GLI3
    • cell & other
    REGULATION
    inhibited by geminin
    ASSOCIATED DISORDERS
    corresponding disease(s) PSDY2 , BDD , SDTY5
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in a VACTERL patient
    tumoral     --over  
    higher in progesterone receptor-positive cancer tissues than negative cancer tissues
    Susceptibility
    Variant & Polymorphism repeat triplet polyalamine expansion
    Candidate gene
  • HOXD13 methylation could therefore potentially be used as a prognostic factor for breast cancer
    • Marker
    Therapy target
    ANIMAL & CELL MODELS
  • loss of Hoxa13 and Hoxd13 transcription factors (Hox13) leads to digit agenesis in mice