CNTNAP2 wt Allele

Preferred Label : CNTNAP2 wt Allele;

NCIt synonyms : Contactin Associated Protein-Like 2 wt Allele; NRXN4; CDFE; CASPR2; DKFZp781D1846; PTHSL1; AUTS15; Neurexin IV, Drosophila, Homolog of Gene; KIAA0868; Homolog of Drosophila Neurexin IV Gene;

NCIt definition : Human CNTNAP2 wild-type allele is located within 7q35-q36 and is approximately 2305 kb in length. This allele, which encodes contactin associated protein-like 2, may play a role in axonal organization. Mutations in this gene are associated with cortical dysplasia-focal epilepsy syndrome and may be involved in autism and the DFNB13 form of nonsyndromic deafness.;

GenBank Accession Number : AF193613;

Details

Origin ID

C73462;

UMLS CUI

C2347280;

OMIM relation
- Contactin-associated protein-like 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 7q35-q36 [NCIt concept]
gene_is_element_in_pathway
- Cell Adhesion Molecule Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Ligand Binding [NCIt concept]
- Neuronal Transmission [NCIt concept]
- Receptor Signaling [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients