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FLASH GENE

Symbol

SHANK3

contributors: mct/npt - updated : 06-12-2015

HGNC name	SH3 and multiple ankyrin repeat domains 3
HGNC id	14294

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

DEL22Q13 , AUTS20

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       haploinsufficiency of SHANK3 can cause a monogenic form of autism

Susceptibility

to autism spectrum disorder, AUTS20 to schizophrenia

Variant & Polymorphism other	mutation associated with schizophrenia (Gauthier 2010)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed mental retardation other   pharmacological augmentation of GRM5 activity represents a possible new therapeutic approach for patients with SHANK3 mutations

ANIMAL & CELL MODELS

	demonstrate a critical role for SHANK3 in the normal development of neuronal connectivity and establish causality between a disruption in the Shank3 gene and the genesis of autistic-like behaviours in mice (
	a mouse genetic model that mimics a human mutation of Shank3 that deletes the Homer-binding domain at the C terminus (&
	916;C) and is associated with autism
	Shank3(+/&
	916;C) mice exhibit behavioral phenotypes that parallel symptoms of ASD
	Shank3 mutant mice exhibit autistic-like behaviors, including impaired social interaction and repetitive behaviors