CNTNAP2 (Entrez ID: 26047)

Entrez Gene ID 26047
Official Gene Symbol CNTNAP2 (GeneCards)
Full name contactin associated protein like 2
Location 7q35-q36.1
Other ids Vega : OTTHUMG00000152743
MIM : 604569
HGNC : HGNC:13830
Ensembl : ENSG00000174469
Other names CDFE, NRXN4, AUTS15, CASPR2, PTHSL1
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]

Variants

Found 21 variants in this database.