CNTNAP2 contactin associated protein 2
Gene ID: 26047, updated on 2-Nov-2024Gene type: protein coding
Also known as: CDFE; NRXN4; AUTS15; CASPR2; PTHSL1
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- Go to complete Gene record for CNTNAP2
- Go to Variation Viewer for CNTNAP2 variants
Summary
This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A comprehensive genetic association study of Alzheimer disease in African Americans. GeneReviews: Not available | |
| A genome wide association study (GWAS) providing evidence of an association between common genetic variants and late radiotherapy toxicity. GeneReviews: Not available | |
| A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Autism, susceptibility to, 15 | not available |
| Cortical dysplasia-focal epilepsy syndrome | not available |
| Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval. GeneReviews: Not available | |
| Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. GeneReviews: Not available | |
| Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. GeneReviews: Not available | |
| Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women. GeneReviews: Not available | |
| Genome-wide association with bone mass and geometry in the Framingham Heart Study. GeneReviews: Not available | |
| Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2019-10-23) ClinGen Genome Curation PageHaploinsufficency Little evidence for dosage pathogenicity (Last evaluated 2019-10-23) ClinGen Genome Curation PagePubMed |
Genomic context
- Location:
- 7q35-q36.1
- Sequence:
- Chromosome: 7; NC_000007.14 (146116801..148420998)
- Total number of exons:
- 25
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CNTNAP2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- CNTNAP2 @ LOVD
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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