GRIN2B

glutamate ionotropic receptor NMDA type subunit 2B

Summary

This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]

Known Variants1,244 total

rsidPosition (GRCh37)AllelesClassClinVar
rs180550112:13,714,059A/G3 prime UTR variant—
rs180550212:13,714,181A/G3 prime UTR variant—
rs180547612:13,714,363G/C——
rs15127037412:13,714,487C/G—conflicting classifications of pathogenicity
rs180547712:13,714,729T/C3 prime UTR variant—
rs89012:13,715,308A/C3 prime UTR variantbenign
rs19976446812:13,715,424C/T—uncertain significance
rs88604909612:13,715,485A/G—uncertain significance
rs8008196512:13,715,498A/G—uncertain significance
rs146255358612:13,715,738A/G—likely benign
rs91079375112:13,715,740A/G—uncertain significance
rs138898651912:13,715,743G/C—uncertain significance
rs213640217912:13,715,751T/C—likely benign
rs155510149712:13,715,756A/C—likely benign
rs20205142412:13,715,759C/T—likely benign
rs19981915312:13,715,762A/G—likely benign
rs20114582912:13,715,763T/C—uncertain significance
rs20213323112:13,715,766C/T—uncertain significance
rs249746430312:13,715,770A/G—uncertain significance
rs20012769212:13,715,772C/G—uncertain significance
rs116854980412:13,715,782C/G—uncertain significance
rs194856481112:13,715,787G/T—likely benign
rs36945542912:13,715,792T/C—likely benign
rs138433820512:13,715,797T/C—likely benign
rs75679072712:13,715,817G/A—conflicting classifications of pathogenicity
rs76697019712:13,715,831A/G—conflicting classifications of pathogenicity
rs130110630112:13,715,835A/T—benign
rs76870746012:13,715,842T/C—uncertain significance
rs249746455312:13,715,843C/T—likely benign
rs156545256512:13,715,846G/C—uncertain significance
rs213640241612:13,715,849A/G—likely benign
rs20090387612:13,715,850C/T—likely benign
rs77364847312:13,715,851G/A—benign
rs76703701112:13,715,853G/C—likely benign
rs75437760012:13,715,854C/A—likely benign
rs194856699012:13,715,856G/A—uncertain significance
rs75804247512:13,715,857G/C—uncertain significance
rs138473221712:13,715,858C/T—likely benign
rs76369966812:13,715,860C/T—conflicting classifications of pathogenicity
rs11226512712:13,715,861G/A—likely benign
rs194856739412:13,715,862G/A—benign
rs79704560812:13,715,863C/T—conflicting classifications of pathogenicity
rs156545261612:13,715,865C/G—conflicting classifications of pathogenicity
rs20180993812:13,715,867A/G—likely benign
rs100210882712:13,715,872G/A—conflicting classifications of pathogenicity
rs74571522512:13,715,873G/A—conflicting classifications of pathogenicity
rs75588005112:13,715,876C/T—likely benign
rs155510158112:13,715,880A/G—uncertain significance
rs78002279612:13,715,883A/G—benign
rs87925388512:13,715,884C/G—uncertain significance
rs14623527112:13,715,885C/T—likely benign
rs126105449712:13,715,886G/A—benign
rs155510159712:13,715,890T/G—uncertain significance
rs74812807812:13,715,902G/A—benign
rs156545266512:13,715,903G/A—likely benign
rs194856853512:13,715,904G/A—uncertain significance
rs7526958612:13,715,907C/T—conflicting classifications of pathogenicity
rs77327820012:13,715,908G/A—uncertain significance
rs87925412912:13,715,911A/G—uncertain significance
rs249746484612:13,715,913T/C—uncertain significance
rs76117448912:13,715,915C/T—likely benign
rs20026951212:13,715,916G/A—conflicting classifications of pathogenicity
rs7598813412:13,715,918C/T—likely benign
rs37710528512:13,715,922G/A—uncertain significance
rs86692984212:13,715,923C/A—uncertain significance
rs15095667512:13,715,927C/T—likely benign
rs20146339012:13,715,928G/A—conflicting classifications of pathogenicity
rs20222748512:13,715,930C/T—likely benign
rs75110797112:13,715,931G/A—conflicting classifications of pathogenicity
rs14074481812:13,715,932C/T—uncertain significance
rs36903427412:13,715,936C/T—likely benign
rs131434630012:13,715,937G/T—likely benign
rs155510162212:13,715,940A/C—uncertain significance
rs14965531512:13,715,942C/G—likely benign
rs77983055212:13,715,943G/A—conflicting classifications of pathogenicity
rs180524612:13,715,954G/A—benign
rs77867748912:13,715,957G/A—likely benign
rs122114485112:13,715,963G/C—likely benign
rs194856995612:13,715,964G/A—uncertain significance
rs194856999212:13,715,966T/G—uncertain significance
rs134950648112:13,715,967T/C—conflicting classifications of pathogenicity
rs77202787512:13,715,969G/A—uncertain significance
rs180524712:13,715,975A/G—benign
rs156545279112:13,715,976T/C—uncertain significance
rs20124789212:13,715,978G/A—likely benign
rs194857049012:13,715,987C/A—uncertain significance
rs155510166312:13,715,989G/T—uncertain significance
rs19952961512:13,715,993G/A—likely benign
rs194857062312:13,716,000A/G—uncertain significance
rs146648575312:13,716,010T/C—benign
rs20078347112:13,716,014A/G—likely benign
rs249746529312:13,716,017G/A—likely benign
rs20175035812:13,716,023C/T—likely benign
rs77583837412:13,716,024G/C—uncertain significance
rs76144344112:13,716,030C/T—uncertain significance
rs121700495112:13,716,031G/T—likely benign
rs76692995112:13,716,032G/A—likely benign
rs74986719612:13,716,044C/T—likely benign
rs249746542112:13,716,050G/T—uncertain significance
rs213640289712:13,716,052T/G—uncertain significance

Showing 100 of 1,244 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.