CNTNAP4 contactin associated protein family member 4
Gene ID: 85445, updated on 16-Apr-2024Gene type: protein coding
Also known as: CASPR4
- See all available tests in GTR for this gene
- Go to complete Gene record for CNTNAP4
- Go to Variation Viewer for CNTNAP4 variants
Summary
This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein 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, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations. GeneReviews: Not available | |
| Genome-wide association study of d-amphetamine response in healthy volunteers identifies putative associations, including cadherin 13 (CDH13). GeneReviews: Not available | |
| Genome-wide SNP associations with rubella-specific cytokine responses in measles-mumps-rubella vaccine recipients. GeneReviews: Not available | |
| Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNFα inhibitors in patients with rheumatoid arthritis. GeneReviews: Not available |
Genomic context
- Location:
- 16q23.1
- Sequence:
- Chromosome: 16; NC_000016.10 (76277401..76560757)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CNTNAP4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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