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FLASH GENE
Symbol SHOX contributors: mct/pgu - updated : 30-11-2011
HGNC name short stature homeobox
HGNC id 10853
Corresponding disease
DCS dyschondrosteosis, Leri-Weill syndrome
DELXPF chromosome Xp distal deletion in females
DELXPM chromosome Xp terminal deletion in males
GCX growth control region, pseudoautosomal
MMDL Langer mesomelic dysplasia
SHSIX short stature , idiopathic
Location Xp22.33      Physical location : 535.078 - 620.145
Synonym name
  • pseudoautosomal homeobox containing osteogenic gene
  • growth control factor, X-linked
    • Synonym symbol(s) PHOG, GCFX, SS, SHOX1
    DNA
    TYPE functioning gene
    SPECIAL FEATURE escaping inactivation
    STRUCTURE 35.07 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    Binding site   enhancer
    text structure
  • an alternative promotor within exon 2
  • may be a cis-acting enhancer in the 3' region around DXYS233 and a distal regulatory elements of SHOX transcription in PAR1
    • MAPPING cloned Y linked N status confirmed
    Map pter -DXYS201 - DXYS14X - SHOX - DXYS15X - DXYS86 - DXYS59 - cen
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 3757 32 292 skeletal, pancreas, placenta, heart, bone marrow 2001 11751690
  • also called SHOXA
  • lacking exon 5B
  • exerts a similar function as SHOX2 in regulating the formation of sinoatrial node and the pacemaking function, indicating a functional redundancy between these two genes (PMID: 21454626)
    • 6 - 1951 25 225 predominantly found in bone marrow, fetal kidney and skeletal muscle 2001 11751690
  • also called SHOXB
  • lacking exon 5A
    		•
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, pregnancy
    Text
  • placenta, pharyngeal pouches, limbs
  • expressed both in early embryonic limb development and in fetal and childhood growth plates
  • coexpression of SHOX, SOX5, SOX6 and SOX9 in the fetal growth plate
    • 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