Developmental Brain Disorder Gene Database

Missense Gene

Gene
Search
Return to Missense Gene Listing Page

 

Missense

CNTNAP2

HGNC:13830 (protein-coding gene)

contactin associated protein 2

Unique Cases:
2
Disorders:
ID, EP
Last Updated:
November 4, 2024

Summary
Cases
Publications
External

Gene Summary:

Gene Function
Required for gap junction formation (Probable). Required, with CNTNAP1, for radial and longitudinal organization of myelinated axons. Plays a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Demarcates the juxtaparanodal region of the axo-glial junction. {ECO:0000250|UniProtKB:Q9CPW0, ECO:0000305|PubMed:33238150}. (Source: Uniprot)
Previous symbols
No previous symbols
Alias symbols
Caspr2, KIAA0868, NRXN4
Chromosomal Location
7q35-q36.1
Genomic Coordinates
GRCh37:chr7:145813453-148118090
GRCh38:chr7:146116207-148420998
Associated Disorders
Intellectual Disability, Epilepsy

Predictive Scores:

HI Score (Decipher)

4.94

pLI (gnomAD)

0.00

LOEUF (gnomAD)

0.55

Classifications from External Sources:

SFARI Score (SFARI)

2

DDG2P Classification (DDG2P)

Definitive

ClinGen Classification (ClinGen)

Definitive1

Disputed1

GenCC Classification (GenCC)

Definitive3 Moderate1 Supportive1 Strong1 Disputed Evidence1

Publications:

NCBI: Gene

Integrates information from a wide range of species. A record may include nomenclature, Reference Sequences (RefSeqs), maps, pathways, variations, phenotypes, and links to genome-, phenotype-, and locus-specific resources worldwide.
NCBI: Gene

Gene Reviews

An international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Gene Reviews

DECIPHER

DECIPHER (DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources) is an interactive web-based database which incorporates a suite of tools designed to aid the interpretation of genomic variants. DECIPHER enhances clinical diagnosis by retrieving information from a variety of bioinformatics resources relevant to the variant found in the patient.
DECIPHER

SFARI

SFARI Gene is an evolving online database designed to permit quick entrée into the genetics of autism, and to help researchers track the ever-expanding genetic risk factors that emerge in the literature.
SFARI

ClinGen

ClinGen is a National Institutes of Health (NIH)-funded resource dedicated to building an authoritative central resource that defines the clinical relevance of genes and variants for use in precision medicine and research.
ClinGen

GenCC

The GenCC DB provides information pertaining to the validity of gene-disease relationships, with a current focus on Mendelian diseases.
GenCC

gnomAD

The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community.
gnomAD
Back To Top

Autism & Developmental Medicine Institute