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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
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