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FLASH GENE
Symbol SHOX2 contributors: npt/mct/pgu - updated : 25-08-2010
HGNC name short stature homeobox 2
HGNC id 10854
DNA
TYPE functioning gene
STRUCTURE 10.59 kb     5 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 splicing 3135 35 331 - 1998 9482898
  • SHOX2a, differring from SHOX2b in the translation start site lies 131 codons upstream from that of SHOX2b
  • both isoforms contain the sequence encoding the homeodomain, an SH3 binding domain, and the OAR domain
  • lacking an exon in the C-terminal
  • containing an additional exon in the C-terminal region
  • 5 splicing 2781 21 190 - 1998 9482898
  • SHOX2b, differrings from SHOX2a in the translation start site lies 131 codons downstream from that of SHOX2a
  • both isoforms contain the sequence encoding the homeodomain, an SH3 binding domain, and the OAR domain
  • lacking an exon in the C-terminal region
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveliver    
    Endocrinepancreas    
    Nervousbrain    
    Respiratorylung    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood/Hematopoieticbone marrow   
    Connective    
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text
  • strongly, in developing craniofacial, brain, heart and in the mesenchym of developing limbs and placenta
  • in the developing sinoatrial node
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 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 ortholog to murine Shox2 (99 p100)
    intraspecies homolog to SHOX, highly
    Homologene
    FAMILY
  • paired homeobox family
  • bicoid subfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus
    basic FUNCTION
  • playing a role in craniofacial, brain, heart and limb development
  • playing a role in specifying neural systems involved in processing somatosensory information, as well as in face and body structure formation
  • acting as a growth regulator
  • key role in regulating the growth of stylopod by controlling chondrocyte maturation via RUNX2 and RUNX3
  • may be regulating the expression of osteogenic genes and essential for the development and function of temporomandibular joint
  • essential for the formation of the sinoatrial valves and for the development of the pacemaking system
  • TBX5 function is critical for the expression of SHOX2 in cardiac tissues
  • required for normal skeletal, neural and muscular development in the forelimb at a similar early developmental stage in each tissue
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    text
  • heart development
  • skeletal development
  • neurogenesis
  • embryonic development
  • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • direct target for PITX2C repression in the embryonic and adult left atrium
  • interacting with NKX2-5 (essential for the differentiation of cardiac pacemaker cells by repressing NKX2-5)
  • BMP4 gene is a direct target of SHOX2 that interacts directly with the BMP4 promoter
  • LMO1 and SHOX2, are ARX targets (mutations in the ARX homeodomain disrupt repression of LMO1 and SHOX2, direct targets of ARX transcription repression)
  • SHOX2, like SHOX, regulates NPPB directly
  • activates ACAN via its cooperation with SOX5, SOX6, SOX9
  • cell & other
    REGULATION
    activated by TBX4 that activates SHOX2 expression in fore- and hindlimbs, suggesting SHOX2 as a feedback modulator of TBX4
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    haploinsufficient mutation in SHOX2 could likely cause bradycardia and arrhythmia
    Susceptibility
    Variant & Polymorphism
    Candidate gene for Cornelia de Lange syndrome
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • overexpression in Xenopus embryos results in extensive repression of Nkx2-5 in the developing heart, leading to a reduced cardiac field and aberrant heart formation
  • Shox2-deficiency leads to dysplasia and ankylosis of the temporomandibular joint in mice