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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@
    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 - 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