NRXN2
Description
The NRXN2 (neurexin 2) is a protein-coding gene located on chromosome 11.
Neurexin-2-alpha is a protein encoded by the NRXN2 gene in humans. Neurexins are a family of proteins that act as cell adhesion molecules and receptors in the vertebrate nervous system. They are encoded by several unlinked genes, including NRXN1 and NRXN3, which are among the largest known human genes. Three of these genes (NRXN1-3) utilize two alternate promoters and include numerous alternatively spliced exons, leading to the production of thousands of distinct mRNA transcripts and protein isoforms. Most transcripts are generated from the upstream promoter and encode alpha-neurexin isoforms, while a smaller number of transcripts are produced from the downstream promoter and encode beta-neurexin isoforms. Alpha-neurexins contain epidermal growth factor-like (EGF-like) sequences and laminin G domains, and have been shown to interact with neurexophilins. Beta-neurexins lack EGF-like sequences and contain fewer laminin G domains than alpha-neurexins.
Neurexin-2-alpha is a neuronal cell surface protein that plays a role in cell recognition and adhesion.
NRXN2 is also known as -.
Associated Diseases
- substance abuse
- thyroid gland adenocarcinoma
- developmental and epileptic encephalopathy, 1
- infantile epileptic-dyskinetic encephalopathy
- developmental and epileptic encephalopathy
- West syndrome
