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FLASH GENE
Symbol SHANK2 contributors: mct/npt - updated : 20-05-2015
HGNC name SH3 and multiple ankyrin repeat domains 2
HGNC id 14295
ASSOCIATED DISORDERS
corresponding disease(s) AUTS17
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   amplification    
coamplified with CCND1 in oral squamous cell carcinoma
tumoral     --over  
in the differentiated retinoblastoma cells, which was mediated by ERK 1/2 activation (Kim 2009)
Susceptibility to autism-spectrum disorder (ASD) and mental retardation
Variant & Polymorphism other nonsense mutation associated to autism-spectrum disorder (ASD) and mental retardation (Berkel 2010)
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • the postnatal expression of the SHANK2-R462X in mice can lead to impaired cognitive functions
  • reduced Nmdar function may contribute to the development of ASD-like phenotypes in Shank2(-/-) mice, and Grm8 modulation of Nmdars offers a potential strategy to treat Autism spectrum disorder (ASD)