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Gene Report
Basic Info
| Approved Symbol | GRIN2B |
|---|---|
| Previous Symbol | NMDAR2B |
| Approved Name | glutamate receptor, ionotropic, N-methyl D-aspartate 2B |
| Location | 12p12 |
| Position | chr12:13714144-14133053, - |
| External Links |
HGNC: 4586 Entrez Gene: 2904 Ensembl: ENSG00000150086 UCSC: uc001rbt.2 |
| No. of Studies | 1 (significant: 1; non-significant: 0; trend: 0) |
| Source | Literature-origin; Mapped by LD-proxy; Mapped by literature SNP |
Gene related studies (count: 1)
| Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
|---|---|---|
| Dorval KM, 2007 | In haplotype analysis, the most significant P-value=0.013 . The global transmit results were significant for haplotypes with a frequency greater than 10%(P-value=0.008) and for all haplotypes(P-value=0.003). | Significant |
Gene related SNPs (count: 125)
Literature-origin SNPs (count: 9)
| rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| rs890 | Chr12:13715308(Fwd) | 3_prime_UTR_variant | 1(0/1/0) |
| rs2284416 | Chr12:13919214(Fwd) | intron_variant | 1(0/1/0) |
| rs4764031 | Chr12:13889573(Fwd) | intron_variant | 1(0/1/0) |
| rs2284407 | Chr12:13842206(Fwd) | intron_variant | 1(1/0/0) |
| rs2284411 | Chr12:13866172(Fwd) | intron_variant | 1(1/0/0) |
| rs2300256 | Chr12:13868410(Fwd) | intron_variant | 1(0/1/0) |
| rs1805502 | Chr12:13714181(Fwd) | 3_prime_UTR_variant | 1(0/1/0) |
| rs2268097 | Chr12:13752832(Fwd) | intron_variant | 1(0/1/0) |
| rs2268115 | Chr12:13869725(Fwd) | intron_variant | 1(1/0/0) |
LD-proxies (count: 116)
| rs_ID | Location | Functional Annotation |
|---|---|---|
| rs1805247 | Chr12:13715975(Fwd) | synonymous_variant |
| rs2300237 | Chr12:13813270(Fwd) | intron_variant |
| rs1805476 | Chr12:13714363(Fwd) | 3_prime_UTR_variant |
| rs2270359 | Chr12:13722313(Fwd) | intron_variant |
| rs10772694 | Chr12:13739350(Fwd) | downstream_gene_variant; intron_variant |
| rs2268114 | Chr12:13867220(Fwd) | intron_variant |
| rs10772705 | Chr12:13866280(Fwd) | intron_variant |
| rs10772706 | Chr12:13869689(Fwd) | intron_variant |
| rs2300251 | Chr12:13861595(Fwd) | intron_variant |
| rs2300253 | Chr12:13861951(Fwd) | intron_variant |
| rs888150 | Chr12:13745044(Fwd) | intron_variant; upstream_gene_variant |
| rs11055597 | Chr12:13862474(Fwd) | intron_variant |
| rs1805474 | Chr12:13742150(Fwd) | intron_variant; upstream_gene_variant |
| rs10845826 | Chr12:13858822(Fwd) | intron_variant |
| rs1805510 | Chr12:13751252(Fwd) | intron_variant |
| rs2300244 | Chr12:13840654(Fwd) | downstream_gene_variant; intron_variant |
| rs10772695 | Chr12:13745348(Fwd) | intron_variant; upstream_gene_variant |
| rs2300243 | Chr12:13840419(Fwd) | downstream_gene_variant; intron_variant |
| rs1806199 | Chr12:13735154(Fwd) | intron_variant |
| rs2300242 | Chr12:13840297(Fwd) | downstream_gene_variant; intron_variant |
| rs1806198 | Chr12:13735144(Fwd) | intron_variant |
| rs2192977 | Chr12:13839002(Fwd) | downstream_gene_variant; intron_variant |
| rs7970177 | Chr12:13738988(Fwd) | downstream_gene_variant; intron_variant |
| rs995803 | Chr12:13838475(Fwd) | downstream_gene_variant; intron_variant |
| rs1805471 | Chr12:13736797(Fwd) | downstream_gene_variant; intron_variant |
| rs2268107 | Chr12:13837990(Fwd) | downstream_gene_variant; intron_variant |
| rs2268101 | Chr12:13802317(Fwd) | intron_variant |
| rs4764026 | Chr12:13835420(Fwd) | intron_variant; upstream_gene_variant |
| rs1805546 | Chr12:13791508(Fwd) | intron_variant |
| rs10744037 | Chr12:13835404(Fwd) | intron_variant; upstream_gene_variant |
| rs2284405 | Chr12:13804560(Fwd) | intron_variant |
| rs10492133 | Chr12:13834813(Fwd) | intron_variant; upstream_gene_variant |
| rs2284403 | Chr12:13804150(Fwd) | intron_variant |
| rs4764025 | Chr12:13834761(Fwd) | intron_variant; upstream_gene_variant |
| rs1805483 | Chr12:13765238(Fwd) | intron_variant |
| rs7970144 | Chr12:13832945(Fwd) | intron_variant; upstream_gene_variant |
| rs2193150 | Chr12:13831339(Fwd) | intron_variant |
| rs1805522 | Chr12:13761741(Fwd) | synonymous_variant |
| rs10772698 | Chr12:13829541(Fwd) | intron_variant |
| rs2216217 | Chr12:13790009(Fwd) | intron_variant |
| rs7313149 | Chr12:13828287(Fwd) | intron_variant |
| rs1805544 | Chr12:13787834(Fwd) | intron_variant |
| rs2300234 | Chr12:13803051(Fwd) | intron_variant |
| rs2900314 | Chr12:13865421(Fwd) | intron_variant |
| rs2300235 | Chr12:13810845(Fwd) | intron_variant |
| rs2300236 | Chr12:13811372(Fwd) | intron_variant |
| rs2300238 | Chr12:13813330(Fwd) | intron_variant |
| rs4764028 | Chr12:13855778(Fwd) | intron_variant |
| rs1805473 | Chr12:13739553(Fwd) | downstream_gene_variant; intron_variant |
| rs11055601 | Chr12:13869312(Fwd) | intron_variant |
| rs980365 | Chr12:13820027(Fwd) | intron_variant |
| rs2284410 | Chr12:13859811(Fwd) | intron_variant |
| rs2268102 | Chr12:13822239(Fwd) | intron_variant |
| rs11836523 | Chr12:13857884(Fwd) | intron_variant |
| rs1008619 | Chr12:13826407(Fwd) | intron_variant |
| rs10845827 | Chr12:13859064(Fwd) | intron_variant |
| rs1805519 | Chr12:13753852(Fwd) | intron_variant |
| rs10492134 | Chr12:13858882(Fwd) | intron_variant |
| rs1805481 | Chr12:13763455(Fwd) | intron_variant |
| rs2300250 | Chr12:13860621(Fwd) | intron_variant |
| rs1805485 | Chr12:13766887(Fwd) | intron_variant |
| rs2300249 | Chr12:13860067(Fwd) | intron_variant |
| rs1805539 | Chr12:13770190(Fwd) | intron_variant |
| rs11055594 | Chr12:13857437(Fwd) | intron_variant |
| rs10845814 | Chr12:13772993(Fwd) | intron_variant |
| rs2284402 | Chr12:13775958(Fwd) | intron_variant |
| rs12809496 | Chr12:13857909(Fwd) | intron_variant |
| rs4764023 | Chr12:13794318(Fwd) | intron_variant |
| rs11055595 | Chr12:13857554(Fwd) | intron_variant |
| rs10845819 | Chr12:13805633(Fwd) | intron_variant |
| rs10492136 | Chr12:13911777(Fwd) | intron_variant |
| rs7307315 | Chr12:13912682(Fwd) | intron_variant |
| rs12369725 | Chr12:13914407(Fwd) | intron_variant |
| rs11055609 | Chr12:13918248(Fwd) | intron_variant |
| rs11055612 | Chr12:13923328(Fwd) | intron_variant |
| rs2268124 | Chr12:13924583(Fwd) | intron_variant |
| rs6488620 | Chr12:13928463(Fwd) | intron_variant |
| rs2300265 | Chr12:13931441(Fwd) | intron_variant |
| rs10845834 | Chr12:13871636(Fwd) | intron_variant |
| rs2268118 | Chr12:13872044(Fwd) | intron_variant |
| rs10845831 | Chr12:13871310(Fwd) | intron_variant |
| rs2300257 | Chr12:13868507(Fwd) | intron_variant |
| rs4522263 | Chr12:13712475(Fwd) | downstream_gene_variant |
| rs1075010 | Chr12:13918341(Fwd) | intron_variant |
| rs10772692 | Chr12:13721148(Fwd) | intron_variant |
| rs2284415 | Chr12:13918091(Fwd) | intron_variant |
| rs7316902 | Chr12:13914816(Fwd) | intron_variant |
| rs11055608 | Chr12:13913426(Fwd) | intron_variant |
| rs1806213 | Chr12:13723977(Fwd) | intron_variant |
| rs17821180 | Chr12:13880509(Fwd) | intron_variant |
| rs2268092 | Chr12:13721172(Fwd) | intron_variant |
| rs10845837 | Chr12:13880168(Fwd) | intron_variant |
| rs1806192 | Chr12:13719572(Fwd) | intron_variant |
| rs2268120 | Chr12:13877888(Fwd) | intron_variant |
| rs1806202 | Chr12:13718561(Fwd) | intron_variant |
| rs11612284 | Chr12:13875676(Fwd) | intron_variant |
| rs3026173 | Chr12:13712287(Fwd) | downstream_gene_variant |
| rs12301788 | Chr12:13899362(Fwd) | intron_variant |
| rs2300263 | Chr12:13899150(Fwd) | intron_variant |
| rs2300260 | Chr12:13883684(Fwd) | intron_variant |
| rs2300259 | Chr12:13881556(Fwd) | intron_variant |
| rs2300246 | Chr12:13841757(Fwd) | downstream_gene_variant; intron_variant |
| rs10772700 | Chr12:13844404(Fwd) | intron_variant |
| rs723095 | Chr12:13836650(Fwd) | intron_variant; nc_transcript_variant; non_coding_exon_variant |
| rs2284408 | Chr12:13842657(Fwd) | intron_variant |
| rs2284409 | Chr12:13842665(Fwd) | intron_variant |
| rs2268108 | Chr12:13838638(Fwd) | downstream_gene_variant; intron_variant |
| rs2268109 | Chr12:13838651(Fwd) | downstream_gene_variant; intron_variant |
| rs2284406 | Chr12:13825416(Fwd) | intron_variant |
| rs2300252 | Chr12:13861684(Fwd) | intron_variant |
| rs918065 | Chr12:13842709(Fwd) | intron_variant |
| rs11055586 | Chr12:13843488(Fwd) | intron_variant |
| rs7967590 | Chr12:13858343(Fwd) | intron_variant |
| rs2300255 | Chr12:13867668(Fwd) | intron_variant |
| rs11055593 | Chr12:13857007(Fwd) | intron_variant |
| rs7968071 | Chr12:13858116(Fwd) | intron_variant |
Gene related CNVs (count: 0)
Gene related other variant (count: 0)
Gene related regions (count: 0)
Gene related GO terms (count: 32)
GO terms by PBA (with statistical significance of FDR<0.05) (count: 1)
| ID | Name | Type | Evidence[PMID] | No. of Genes in ADHDgene |
|---|---|---|---|---|
| GO:0005262 | calcium channel activity | Molecular Function | 40 |
GO terms by database search (count: 31)
Gene related KEGG pathways (count: 7)
| ID | Name | No. of Genes in ADHDgene | Brief Description |
|---|---|---|---|
| hsa04080 | Neuroactive ligand-receptor interaction | 93 | |
| hsa05010 | Alzheimer's disease | 40 | Alzheimer's disease (AD) is a chronic disorder that slowly d...... Alzheimer's disease (AD) is a chronic disorder that slowly destroys neurons and causes serious cognitive disability. AD is associated with senile plaques and neurofibrillary tangles (NFTs). Amyloid-beta (Abeta), a major component of senile plaques, has various pathological effects on cell and organelle function. The extracellular Abeta oligomers may activate caspases through activation of cell surface death receptors. Alternatively, intracellular Abeta may contribute to pathology by facilitating tau hyper-phosphorylation, disrupting mitochondria function, and triggering calcium dysfunction. To date genetic studies have revealed four genes that may be linked to autosomal dominant or familial early onset AD (FAD). These four genes include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2) and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of Abeta peptides, specfically the more amyloidogenic form, Abeta42. FAD-linked PS1 mutation downregulates the unfolded protein response and leads to vulnerability to ER stress. More... |
| hsa04720 | Long-term potentiation | 15 | Hippocampal long-term potentiation (LTP), a long-lasting inc...... Hippocampal long-term potentiation (LTP), a long-lasting increase in synaptic efficacy, is the molecular basis for learning and memory. Tetanic stimulation of afferents in the CA1 region of the hippocampus induces glutamate release and activation of glutamate receptors in dendritic spines. A large increase in [Ca2+]i resulting from influx through NMDA receptors leads to constitutive activation of CaM kinase II (CaM KII) . Constitutively active CaM kinase II phosphorylates AMPA receptors, resulting in potentiation of the ionic conductance of AMPA receptors. Early-phase LTP (E-LTP) expression is due, in part, to this phosphorylation of the AMPA receptor. It is hypothesized that postsynaptic Ca2+ increases generated through NMDA receptors activate several signal transduction pathways including the Erk/MAP kinase and cAMP regulatory pathways. The convergence of these pathways at the level of the CREB/CRE transcriptional pathway may increase expression of a family of genes required for late-phase LTP (L-LTP). More... |
| hsa05014 | Amyotrophic lateral sclerosis (ALS) | 11 | Amyotrophic lateral sclerosis (ALS) is a progressive, lethal...... Amyotrophic lateral sclerosis (ALS) is a progressive, lethal, degenerative disorder of motor neurons. The hallmark of this disease is the selective death of motor neurons in the brain and spinal cord, leading to paralysis of voluntary muscles. Mutant superoxide dismutase 1 (SOD1), as seen in some familial ALS (FALS) cases, is unstable, forming aggregates in the motor neuron cytoplasm, axoplasm and mitochondria. Within mitochondria, mutant SOD1 may interfere with the anti-apoptotic function of Bcl-2, affect mitochondrial import by interfering with the translocation machinery (TOM/TIM), and generate toxic free radicals (ROS). Reactive oxygen species (ROS), produced within mitochondria, inhibit the function of EAAT2, the main glial glutamate transporter protein, responsible for most of the reuptake of synaptically released glutamate. Glutamate excess increases intracellular calcium, which enhances oxidative stress and mitochondrial damage. Mutant SOD1 can also trigger oxidative reactions , which can then cause damage through the formation of hydroxyl radicals or via nitration of tyrosine residues on proteins. Nitration may target neurofilament proteins, affecting axonal transport. Collectively, these mechanisms are predicted to disturb cellular homeostasis, ultimately triggering motor neuron death. More... |
| hsa05016 | Huntington's disease | 28 | Huntington disease (HD) is an autosomal-dominant neurodegene...... Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction. More... |
| hsa04724 | Glutamatergic synapse | 43 | Glutamate is the major excitatory neurotransmitter in the ma...... Glutamate is the major excitatory neurotransmitter in the mammalian central nervous system(CNS). Glutamate is packaged into synaptic vesicles in the presynaptic terminal. Once released into the synaptic cleft, glutamate acts on postsynaptic ionotropic glutamate receptors (iGluRs) to mediate fast excitatory synaptic transmission. Glutamate can also act on metabotropic glutamate receptors (mGluRs) and exert a variety of modulatory effects through their coupling to G proteins and the subsequent recruitment of second messenger systems. Presynaptically localized Group II and Group III mGluRs are thought to represent the classical inhibitory autoreceptor mechanism that suppresses excess glutamate release. After its action on these receptors, glutamate can be removed from the synaptic cleft by EAATs located either on the presynaptic terminal, neighboring glial cells, or the postsynaptic neuron. In glia, glutamate is converted to glutamine, which is then transported back to the presynaptic terminal and converted back to glutamate. More... |
| hsa05322 | Systemic lupus erythematosus | 19 | Systemic lupus erythematosus (SLE) is a prototypic autoimmun...... Systemic lupus erythematosus (SLE) is a prototypic autoimmune disease characterised by the production of IgG autoantibodies that are specific for self-antigens, such as DNA, nuclear proteins and certain cytoplasmic components, in association with a diverse array of clinical manifestations. The primary pathological findings in patients with SLE are those of inflammation, vasculitis, immune complex deposition, and vasculopathy. Immune complexes comprising autoantibody and self-antigen is deposited particulary in the renal glomeruli and mediate a systemic inflammatory response by activating complement or via Fc{gamma}R-mediated neutrophil and macrophage activation. Activation of complement (C5) leads to injury both through formation of the membrane attack complex (C5b-9) or by generation of the anaphylatoxin and cell activator C5a. Neutrophils and macrophages cause tissue injury by the release of oxidants and proteases. More... |
Genes shared at least 5 GO terms with GRIN2B (count: 55)
Genes shared at least 2 KEGG pathways with GRIN2B (count: 37)
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Region: chr12:13714144..14133053 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014