DISEASES

Disease-gene associations mined from literature

Literature associating NLGN2 and Ritscher-Schinzel syndrome 2

NLGN2 [ENSP00000305288]

Neuroligin-2; Transmembrane scaffolding protein involved in cell-cell interactions via its interactions with neurexin family members. Mediates cell-cell interactions both in neurons and in other types of cells, such as Langerhans beta cells. Plays a role in synapse function and synaptic signal transmission, especially via gamma-aminobutyric acid receptors (GABA(A) receptors). Functions by recruiting and clustering synaptic proteins. Promotes clustering of postsynaptic GABRG2 and GPHN. Promotes clustering of postsynaptic LHFPL4 (By similarity). Modulates signaling by inhibitory synapses, and thereby plays a role in controlling the ratio of signaling by excitatory and inhibitory synapses and information processing. Required for normal signal amplitude from inhibitory synapses, but is not essential for normal signal frequency. May promote the initial formation of synapses, but is not essential for this. In vitro, triggers the de novo formation of presynaptic structures. Mediates cell-cell interactions between Langerhans beta cells and modulates insulin secretion (By similarity). ; Belongs to the type-B carboxylesterase/lipase family.

Synonyms:  NLGN2,  NLGN2p,  hNLGN2,  I3L498,  Q8NFZ4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM