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FLASH GENE
Symbol IRX5 contributors: mct - updated : 12-05-2017
HGNC name iroquois homeobox 5
HGNC id 14361
Corresponding disease
HMMS Hamamy syndrome
Location 16q12.2      Physical location : 54.965.110 - 54.968.393
Synonym name
  • homeodomain protein IRX-2A
  • homeodomain protein IRXB2
  • iroquois-class homeodomain protein IRX-5
  • Synonym symbol(s) IRX-2A, IRXB2, HMMS
    DNA
    TYPE functioning gene
    STRUCTURE 3.29 kb     3 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    regionally located close to IRX3 and IRX6
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    3 - 875 - 173 - 2006 16527195
    also called IRX5A
    3 - 2078 50.4 483 - 2006 16527195
    also called IRX5B
    3 - 2075 - 383 - 2006 16527195
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth    
     salivary gland    
    Reproductivefemale systemuterus  lowly
    Respiratorylung   lowly
    Urinarykidney   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandular  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES acid
    STRUCTURE
    motifs/domains
  • homeodomain and a hexapeptide-like motif
  • acidic and polyproline regions and an iro box
  • HOMOLOGY
    interspecies homolog to murine Irx5
    Homologene
    FAMILY
  • tale/iro family of homeobox proteins
  • iroquois homeobox gene family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing multiple roles during pattern formation of vertebrate embryos
  • playing a role in retinal cone bipolar cell development and differentiation (Cheng 2005)
  • with VSX1,control specific aspects of visual function in circuits of the mammalian retina (Kerschensteiner 2008)
  • involved in the regulation of both the cell cycle and apoptosis in human prostate cancer cells (Myrthue 2008)
  • possesses the ability to activate the KCND2 promoter (He 2009)
  • important for certain postnatal cardiac functions, including cardiac repolarization
  • plays an important role in VSMC G1/S-phase cell cycle checkpoint control and apoptosis
  • IRX3 and IRX5 can work together to regulate mineralization of specific cranial bones
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • transcriptional control by IRX5 is modulated by direct protein-protein interaction with two GATA zinc-finger proteins, GATA3 and TRPS1
  • IRX5 is required to repress CXCL12 expression for correct chemoattraction of migratory cell populations in branchial arches and gonads, raising the possibility that craniofacial and gonadal anomalies in individuals with homozygous IRX5 mutations may stem, in part, from a gain of CXCL12 signaling during human development
  • complex genetic interactions between IRX3 and IRX5 in embryonic cardiac development and postnatal physiology
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HMMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in breast cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    promising new therapeutic target in cancer treatment
    ANIMAL & CELL MODELS
  • mice lacking Irx5 appear grossly normal, suggesting that redundancy within the Iroquois family