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glutamate receptor, ionotropic, N-methyl D-aspartate 2A OKDB#: 4866
 Symbols: GRIN2A Species: human
 Synonyms: EPND, NR2A, GluN2A, NMDAR2A,  Locus: 16p13.2 in Homo sapiens


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General Comment NCBI Summary: N-methyl-D-aspartate (NMDA) receptors are a class of ionotropic glutamate-gated ion channels. These receptors have been shown to be involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. NMDA receptor channels are heteromers composed of the key receptor subunit NMDAR1 (GRIN1) and 1 or more of the 4 NMDAR2 subunits: NMDAR2A (GRIN2A), NMDAR2B (GRIN2B), NMDAR2C (GRIN2C) and NMDAR2D (GRIN2D). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
General function Channel/transport protein
Comment
Cellular localization Plasma membrane
Comment
Ovarian function Oocyte maturation
Comment
Expression regulated by
Comment
Ovarian localization Oocyte, Cumulus
Comment Expression of N-Methyl-D-Aspartate Receptor Subunits in the Bovine Ovum: Ova as a Potential Source of Autoantigens Causing Anti-NMDAR Encephalitis. Tachibana N et al. (2015) Autoimmune synaptic encephalitis is characterized by the presence of autoantibodies against synaptic constituent receptors and manifests as neurological and psychiatric disorders. Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is such an autoimmune disorder that predominantly affects young women. It is associated with antibodies against the extracellular region of the NR1 subunit of postsynaptic NMDAR. Each NMDAR functions as a heterotetrameric complex that is composed of four subunits, including NR1 and NR2A, NR2B, or NR2C. Importantly, ovarian teratoma is a typical complication of anti-NMDAR encephalitis in female patients and may contain antigenic neural tissue; however, antigenic sites remain unknown in female patients without ovarian teratoma. The purpose of this study was to investigate the expression of NMDARs in the ovum. We detected NR1 and NR2B immunoreactivity in protein fractions extracted from the bovine ovary and ova by SDS-polyacrylamide gel electrophoresis and immunoblotting analysis. Immunoprecipitates digested with trypsin were analyzed by reverse phase liquid chromatography coupled to tandem mass spectrometry. We obtained the following five peptides: SPFGRFK and KNLQDR, which are consistent with partial sequences of human NR1, and GVEDALVSLK, QPTVAGAPK, and NEVMSSK, which correspond to those of NR2A, NR2B and NR2C, respectively. Immunocytochemical analysis revealed that the bovine ovum was stained with the immunoglobulin G purified from the serum of a patient with anti-NMDAR encephalitis. Taken together, we propose that the normal ovum expresses NMDARs that have strong affinity for the disease-specific IgG. The presence of NMDARs in ova may help explain why young females without ovarian teratomas are also affected by anti-NMDAR encephalitis.////////////////// Differences in the transcriptional profiles of human cumulus cells isolated from MI and MII oocytes of patients with polycystic ovary syndrome (PCOS). Huang X et al. Polycystic ovary syndrome (PCOS) is a common endocrine and metabolic disorder in women. Abnormalities of endocrine and intra-ovarian paracrine interactions may change the microenvironment for oocyte development during the folliculogenesis process and reduced oocyte development competence in PCOS patients who are sufferring from anovulatory infertility and pregnancy loss. In this microenvironment, the cross talk between the oocyte and surrounding cumulus cells (CCs) is critical for obtaining oocyte competence. The aim of our study was to investigate gene expression profile of CCs from PCOS patients undergoing IVF cycles in terms of oocyte maturity by using human Genome U133 Plus 2.0 microarrays. A total of 59 genes were differentially expressed between the two CC categories. Most of these genes were identified to be involved in one or more of the following pathways: receptor interactions, calcium signaling, metabolism and biosynthesis, focal adhesion, melanogenesis, leukocyte transendothelial migration, Wnt signaling pathway, and Type II diabetes mellitus. According to the different expression levels in the microarray and their putative functions, six differentially expressed genes (LHCGR, ANGPTL1, TNIK, GRIN2A, SFRP4 and SOCS3) were selected and analyzed by quantitative RT-PCR. The qRT-PCR results were consistent with the microarray data. Moreover, the molecular signatures (LHCGR, TNIK and SOCS3) were associated with developmental potential from embryo to blastocyst stage and were proposed as biomarkers for embryo viability in PCOS patients. Our results may have important clinically useful by offering a new potential strategy for competent oocyte/embryo selection in PCOS patients.
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
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Phenotypes and GWAS show phenotypes and GWAS
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created: April 24, 2013, 10:02 a.m. by: hsueh   email:
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last update: March 31, 2015, 11:07 a.m. by: hsueh    email:



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