GRIN2A

GRIN2A

A gene on chromosome 16p13.2 that encodes an epsilon subunit of N-methyl-D-aspartate (NMDA) receptors, which belong to the glutamate receptor channel superfamily. NMDA receptors consist of multiple subunits arranged to form a ligand-gated ion channel, which play a key role in long-term potentiation and the plasticity of synapses (central to memory and learning).

Molecular pathology
Defects in GRIN2A cause epilepsy with neurodevelopmental defects; GRIN2A somatic mutations are seen in melanoma, suggesting a role for the glutamate signalling pathway in the pathogenesis of melanoma.
References in periodicals archive ?
GRIN2A mutation and early-on-set epileptic encephalopathy: personalized therapy with memantine.
Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy.
An independent study replicated the reported association of a single nucleotide polymorphism, GRIN2A rs4998386, and its interaction with caffeine intake with PD in patient-control study in an ethnically homogenous population in southeastern Sweden in 193 sporadic PD patients and 377 controls.
Prol53Ser rsl2829185 T>C Pesticides N0S1 rsl0774910 T>C rs2682826 A>G rs2314810 G>C Smoking N0S2A rs2248814 A>G rsl060826 T>C Caffeine GRIN2A rs4998386 C>T Caffeine GRIN2A rs4998386 C>T Design for Gene Risk variant (&) interaction ABCB1 rsl045642 C>T, p.
They found that expression levels of the NMDA receptor genes GRIN1, GRIN2A, and GRIN2D increased following cell cultures exposed to alcohol for 7 days.
2] receptor (DRD2) gene as were many genes involved in glutamatergic neurotransmission and synaptic plasticity, including GRM3, GRIN2A, SRR, and GRIA1.
In a study of a million genetic malformations, the research team identified a variant of the GRIN2A gene as a protective factor against Parkinson's.
Exome sequencing identifies GRIN2A as frequently mutated in melanoma.
Additional potential melanoma driver mutations identified in these efforts were found in PREX2 (PIP3-dependent rac exchange factor 2), a PTEN-interacting protein with negative regulatory function, and GRIN2A (glutamate receptor, ionotropic, N-methyl D-aspartate 2A) as well as TRRAP (transformation/transcription domain-associated protein).
Dentro de la evolucion del cerebro humano se ha establecido por estudios previos, la importancia que tienen las secuencias genicas en el proceso de la regulacion del tamano y funcionalidad de este, por ejemplo en los primates se han identificado algunos genes que evidencian una rapida tasa de evolucion, como los genes que codifican subunidades del receptor ionotropico de glutamato GRIK4 y GRIN2A (1, 2), por lo cual se asume que los genes que codifican proteinas especificas para el cerebro en primates tiene una tasa media de evolucion en la escala de divergencia neutral mas rapida que en los roedores (1).