CNTNAP2 gene homepage

General information
Gene symbol CNTNAP2
Gene name contactin associated protein-like 2
Chromosome 7
Chromosomal band q35
Imprinted Unknown
Genomic reference NG_007092.2
Transcript reference NM_014141.5
Exon/intron information NM_014141.5 exon/intron table
Associated with diseases AUTS-15, CDFES, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 147
Unique public DNA variants reported 108
Individuals with public variants 25
Hidden variants 26
Date created September 13, 2012
Date last updated November 29, 2019
Version CNTNAP2:191129

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_014141.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 13830
Entrez Gene 26047
PubMed articles CNTNAP2
OMIM - Gene 604569
OMIM - Diseases AUTS-15 (autism, susceptibility to, type 15 (AUTS-15))
CDFES (dysplasia, cortical-focal epilepsy syndrome (CDFES))
HGMD CNTNAP2
GeneCards CNTNAP2
GeneTests CNTNAP2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001231 7 contactin associated protein-like 2 NM_014141.5 NP_054860.1 147


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We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.