Preferred Name

CNTNAP2 wt Allele

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73462

code

C73462

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.

EntrezGene_ID

26047

FULL_SYN

CNTNAP2 wt Allele

PTHSL1

Homolog of Drosophila Neurexin IV Gene

KIAA0868

CASPR2

Neurexin IV, Drosophila, Homolog of Gene

AUTS15

NRXN4

Contactin Associated Protein-Like 2 wt Allele

CDFE

DKFZp781D1846

GenBank_Accession_Number

AF193613

label

CNTNAP2 wt Allele

Legacy Concept Name

CNTNAP2_wt_Allele

OMIM_Number

604569

Preferred_Name

CNTNAP2 wt Allele

prefixIRI

Thesaurus:C73462

prefLabel

CNTNAP2 wt Allele

Semantic_Type

Gene or Genome

UMLS_CUI

C2347280

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C73461

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