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FLASH GENE

Symbol

CNTNAP2

contributors: mct/ - updated : 20-10-2015

HGNC name	contactin associated protein-like 2
HGNC id	13830

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

CDFE , AUTS1 , SPCHSL , PTHS3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         lead to a disturbed distribution of the K(+) channels in the nervous system, influencing conduction and/or repolarization, causing movements of Gilles de la Tourette syndrome and obsessive compulsive disorder constitutional       loss of function in schizophrenia tumoral     --over   positively correlated with survival and is an independent prognostic factor in glioma

Susceptibility

first widely replicated autism-predisposition gene, see AUTS1, AUTS15 and AUTS19 to Gilles de la Tourette syndrome and obsessive compulsive disorder to autism and language impairment

Variant & Polymorphism	deleterious variant associated with autism : I869T
	SNP rs2710102 associated with autism in male probands (association between variation at rs2710102 and age at first word in ASD samples from male-only families)
	rs7794745 with T allele enriched in probands with autism

Candidate gene	for a subtype of ASD
Marker
Therapy target

ANIMAL & CELL MODELS

Cntnap2-/- mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures