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FLASH GENE
Symbol SHOX contributors: mct/pgu - updated : 30-11-2011
HGNC name short stature homeobox
HGNC id 10853
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • DNA binding protein with POU specific and POU homeo (helix-turn-helix) domains
  • the C terminal OAR domain found in homeo domain proteins highly expressed in craniofacial tissues
    • HOMOLOGY
    interspecies homolog to murine OG-12a,OG-12b
    intraspecies homolog to SHOX2
    Homologene
    FAMILY
  • paired homeobox family
  • bicoid subfamily
    • CATEGORY DNA associated , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • transcriptional activator
  • cell specific involved in the limb development and first and second pharyngeal arches
  • playing a role in chondrocyte function in the growth plate
  • plays a direct role in regulating the differentiation of hypertrophic/apoptotic chondrocytes of the growth plate
  • transcription factor which is important for normal limb development
  • cooperates with SOX5/SOX6 and SOX9 in the activation of the upstream ACAN enhancer
  • SHOX appears to be critical for normal pacemaking function
  • plays a similar role as SHOX2 in the sinoatrial node formation and pacemaking function by controlling a genetic cascade through the repression of NKX2-5
    • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text organogenesis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • FGFR3 is a novel transcriptional target of SHOX (SHOX strongly activate the extended FGFR3 promoter)
  • cooperates with SOX5/SOX6 and SOX9 in the activation of the upstream ACAN enhancer
    • cell & other
    REGULATION
    Other regulated by a combination of transcriptional and translational control mechanisms
    ASSOCIATED DISORDERS
    corresponding disease(s) DCS , GCX , MMDL , SHSIX , DELXPF , DELXPM
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in structural and numerical X abnormalities
    constitutional   deletion    
    in idiopathic short stature (hot-spot of proximal deletion )
    constitutional   amplification    
    duplication with a variable amount of flanking sequence and unclear clinical significance
    constitutional       loss of function
    would create a relatively increased FGFR3 expression in ulna and radius as well as in tibia and fibula, thereby accelerating a fusion of the growth plates and causing a relative shortening of the respective bones
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS