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Gene Report
Basic Info
| Approved Symbol | GRIN2A |
|---|---|
| Previous Symbol | NMDAR2A |
| Approved Name | glutamate receptor, ionotropic, N-methyl D-aspartate 2A |
| Location | 16p13.2 |
| Position | chr16:9847261-10276611, - |
| External Links |
HGNC: 4585 Entrez Gene: 2903 Ensembl: ENSG00000183454 UCSC: uc002czo.3 |
| No. of Studies | 3 (significant: 1; non-significant: 2; trend: 0) |
| Source | Literature-origin; Mapped by LD-proxy; Mapped by literature SNP |
Gene related studies (count: 3)
| Reference | Statistical Values/Author Comments | Result of Statistical Analysis |
|---|---|---|
| Nyman ES, 2007 | No evidence of association was seen. | Non-significant |
| Turic D, 2004 (a) | TRANSMIT genotype analysis: P=0.34 in the initial sample. Overall data of current study suggest that genetic variation in GRIN2A may confer increased risk of ADHD | Significant |
| Adams J, 2004 | TRANSMIT analysis, smallest P=0.15, no significant evidence for biased transmission of haplotypes | Non-significant |
Gene related SNPs (count: 169)
Literature-origin SNPs (count: 10)
| rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| rs1014531 | Chr16:9855794(Fwd) | 3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant | 1(0/1/0) |
| rs1070503 | Chr16:10265174(Fwd) | intron_variant | 1(0/1/0) |
| rs8049651 | Chr16:9943666(Fwd) | downstream_gene_variant; synonymous_variant | 1(0/1/0) |
| rs6497730 | Chr16:10245670(Fwd) | intron_variant | 1(0/1/0) |
| rs765287 | Chr16:9876382(Fwd) | intron_variant | 1(0/1/0) |
| rs12920919 | Chr16:9937980(Fwd) | intron_variant | 1(0/1/0) |
| rs727605 | Chr16:9955564(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
| rs7197278 | Chr16:9907064(Fwd) | intron_variant | 1(0/1/0) |
| rs2267770 | Chr16:9865959(Fwd) | intron_variant; upstream_gene_variant | 1(0/1/0) |
| rs3859124 | Chr16:10088063(Fwd) | intron_variant; nc_transcript_variant | 1(0/1/0) |
LD-proxies (count: 159)
| rs_ID | Location | Functional Annotation |
|---|---|---|
| rs17204778 | Chr16:9906856(Fwd) | intron_variant |
| rs10468229 | Chr16:9907660(Fwd) | intron_variant |
| rs1861191 | Chr16:9908066(Fwd) | intron_variant |
| rs1861192 | Chr16:9908091(Fwd) | intron_variant |
| rs12934281 | Chr16:9908376(Fwd) | intron_variant |
| rs17793917 | Chr16:9908509(Fwd) | intron_variant |
| rs8052950 | Chr16:9910348(Fwd) | intron_variant |
| rs8058276 | Chr16:9911362(Fwd) | intron_variant |
| rs11640235 | Chr16:9891130(Fwd) | intron_variant |
| rs10468237 | Chr16:9905107(Fwd) | intron_variant |
| rs9938265 | Chr16:9905841(Fwd) | intron_variant |
| rs7184107 | Chr16:9905982(Fwd) | intron_variant |
| rs7184325 | Chr16:9906082(Fwd) | intron_variant |
| rs6497520 | Chr16:9906218(Fwd) | intron_variant |
| rs9936542 | Chr16:9931900(Fwd) | intron_variant |
| rs7199910 | Chr16:9926348(Fwd) | intron_variant |
| rs9926912 | Chr16:9948905(Fwd) | intron_variant; nc_transcript_variant |
| rs9940694 | Chr16:9945240(Fwd) | intron_variant; nc_transcript_variant |
| rs2010691 | Chr16:9953399(Fwd) | intron_variant; nc_transcript_variant |
| rs3848324 | Chr16:10071972(Fwd) | intron_variant; nc_transcript_variant |
| rs1004936 | Chr16:9949163(Fwd) | intron_variant; nc_transcript_variant |
| rs11074516 | Chr16:10073412(Fwd) | intron_variant; nc_transcript_variant |
| rs11647445 | Chr16:9926966(Fwd) | intron_variant |
| rs4780751 | Chr16:10067989(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
| rs16966448 | Chr16:9924797(Fwd) | intron_variant |
| rs7188895 | Chr16:10081772(Fwd) | intron_variant; nc_transcript_variant |
| rs1420044 | Chr16:9914133(Fwd) | intron_variant |
| rs11645219 | Chr16:9912643(Fwd) | intron_variant |
| rs12708640 | Chr16:9920898(Fwd) | intron_variant |
| rs6497524 | Chr16:9919335(Fwd) | intron_variant |
| rs2284239 | Chr16:9921502(Fwd) | intron_variant |
| rs13336666 | Chr16:9921464(Fwd) | intron_variant |
| rs9938300 | Chr16:9922615(Fwd) | intron_variant |
| rs2315271 | Chr16:9922503(Fwd) | intron_variant |
| rs2267796 | Chr16:9976713(Fwd) | intron_variant; nc_transcript_variant |
| rs9933832 | Chr16:9948634(Fwd) | intron_variant; nc_transcript_variant |
| rs11863007 | Chr16:9976970(Fwd) | intron_variant; nc_transcript_variant |
| rs8063193 | Chr16:9947581(Fwd) | intron_variant; nc_transcript_variant |
| rs7203268 | Chr16:9975593(Fwd) | intron_variant; nc_transcript_variant |
| rs8060992 | Chr16:9873939(Fwd) | intron_variant |
| rs9934477 | Chr16:9943432(Fwd) | downstream_gene_variant; intron_variant |
| rs8043813 | Chr16:9976000(Fwd) | intron_variant; nc_transcript_variant |
| rs11644075 | Chr16:9866186(Fwd) | intron_variant; upstream_gene_variant |
| rs2215718 | Chr16:9938796(Fwd) | downstream_gene_variant; intron_variant |
| rs7203349 | Chr16:9975236(Fwd) | intron_variant; nc_transcript_variant |
| rs5003769 | Chr16:9955938(Fwd) | intron_variant; nc_transcript_variant |
| rs7203981 | Chr16:9975584(Fwd) | intron_variant; nc_transcript_variant |
| rs9922678 | Chr16:9946319(Fwd) | intron_variant; nc_transcript_variant |
| rs7184289 | Chr16:9972753(Fwd) | intron_variant; nc_transcript_variant |
| rs9926303 | Chr16:9940293(Fwd) | downstream_gene_variant; intron_variant |
| rs11643965 | Chr16:9974207(Fwd) | intron_variant; nc_transcript_variant |
| rs7189901 | Chr16:9957680(Fwd) | intron_variant; nc_transcript_variant |
| rs9989430 | Chr16:9966179(Fwd) | intron_variant; nc_transcript_variant |
| rs16966529 | Chr16:9959121(Fwd) | intron_variant; nc_transcript_variant |
| rs11866328 | Chr16:9862556(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
| rs11641062 | Chr16:10082751(Fwd) | intron_variant; nc_transcript_variant |
| rs9989389 | Chr16:9966348(Fwd) | intron_variant; nc_transcript_variant |
| rs7201930 | Chr16:9958655(Fwd) | intron_variant; nc_transcript_variant |
| rs7202950 | Chr16:9859416(Fwd) | intron_variant; nc_transcript_variant; upstream_gene_variant |
| rs12929074 | Chr16:9965600(Fwd) | intron_variant; nc_transcript_variant |
| rs7196023 | Chr16:9958189(Fwd) | intron_variant; nc_transcript_variant |
| rs12928163 | Chr16:9965659(Fwd) | intron_variant; nc_transcript_variant |
| rs7199375 | Chr16:9956191(Fwd) | intron_variant; nc_transcript_variant |
| rs7199724 | Chr16:9962899(Fwd) | intron_variant; nc_transcript_variant |
| rs9302397 | Chr16:9967827(Fwd) | intron_variant; nc_transcript_variant |
| rs7196878 | Chr16:9865154(Fwd) | intron_variant; upstream_gene_variant |
| rs3848323 | Chr16:10071498(Fwd) | intron_variant; nc_transcript_variant |
| rs7203082 | Chr16:9963016(Fwd) | intron_variant; nc_transcript_variant |
| rs9302396 | Chr16:9967646(Fwd) | intron_variant; nc_transcript_variant |
| rs7197214 | Chr16:9865007(Fwd) | intron_variant; upstream_gene_variant |
| rs12924396 | Chr16:10070285(Fwd) | intron_variant; nc_transcript_variant |
| rs8055791 | Chr16:9937268(Fwd) | intron_variant |
| rs7204928 | Chr16:9962679(Fwd) | intron_variant; nc_transcript_variant |
| rs7196797 | Chr16:9864569(Fwd) | intron_variant; upstream_gene_variant |
| rs6497599 | Chr16:10069793(Fwd) | intron_variant; nc_transcript_variant |
| rs11648156 | Chr16:9937578(Fwd) | intron_variant |
| rs917834 | Chr16:9960879(Fwd) | intron_variant; nc_transcript_variant |
| rs7190895 | Chr16:9864418(Fwd) | intron_variant; upstream_gene_variant |
| rs11074517 | Chr16:10076656(Fwd) | intron_variant; nc_transcript_variant |
| rs8054982 | Chr16:9993394(Fwd) | intron_variant; nc_transcript_variant |
| rs9938117 | Chr16:9932054(Fwd) | intron_variant |
| rs16966658 | Chr16:9992617(Fwd) | intron_variant; nc_transcript_variant |
| rs6497540 | Chr16:9935066(Fwd) | intron_variant |
| rs9921541 | Chr16:9991762(Fwd) | intron_variant; nc_transcript_variant |
| rs7204266 | Chr16:9968503(Fwd) | intron_variant; nc_transcript_variant |
| rs7188892 | Chr16:9991511(Fwd) | intron_variant; nc_transcript_variant |
| rs11642764 | Chr16:9923179(Fwd) | intron_variant |
| rs16966650 | Chr16:9990851(Fwd) | intron_variant; nc_transcript_variant |
| rs16951624 | Chr16:9971429(Fwd) | intron_variant; nc_transcript_variant |
| rs13338500 | Chr16:9990791(Fwd) | intron_variant; nc_transcript_variant |
| rs2267787 | Chr16:9883537(Fwd) | intron_variant |
| rs11648614 | Chr16:9990299(Fwd) | intron_variant; nc_transcript_variant |
| rs2267795 | Chr16:9970875(Fwd) | intron_variant; nc_transcript_variant |
| rs11647369 | Chr16:9989840(Fwd) | intron_variant; nc_transcript_variant |
| rs9928908 | Chr16:9971066(Fwd) | intron_variant; nc_transcript_variant |
| rs16966634 | Chr16:9989647(Fwd) | intron_variant; nc_transcript_variant |
| rs9674103 | Chr16:9909123(Fwd) | intron_variant |
| rs16966631 | Chr16:9989521(Fwd) | intron_variant; nc_transcript_variant |
| rs8058295 | Chr16:9911386(Fwd) | intron_variant |
| rs11640274 | Chr16:9986993(Fwd) | intron_variant; nc_transcript_variant |
| rs2267792 | Chr16:9890958(Fwd) | intron_variant |
| rs9931155 | Chr16:9984523(Fwd) | intron_variant; nc_transcript_variant |
| rs9932138 | Chr16:9903460(Fwd) | intron_variant |
| rs12325652 | Chr16:9983617(Fwd) | intron_variant; nc_transcript_variant |
| rs6497523 | Chr16:9915013(Fwd) | intron_variant |
| rs8060093 | Chr16:9980688(Fwd) | intron_variant; nc_transcript_variant |
| rs8050843 | Chr16:9930580(Fwd) | intron_variant |
| rs9931983 | Chr16:9980216(Fwd) | intron_variant; nc_transcript_variant |
| rs11647877 | Chr16:9914095(Fwd) | intron_variant |
| rs7189130 | Chr16:9978552(Fwd) | intron_variant; nc_transcript_variant |
| rs7196708 | Chr16:9914401(Fwd) | intron_variant |
| rs9930307 | Chr16:9899226(Fwd) | intron_variant |
| rs9938172 | Chr16:10002419(Fwd) | intron_variant; nc_transcript_variant |
| rs17208905 | Chr16:10002809(Fwd) | intron_variant; nc_transcript_variant |
| rs9972744 | Chr16:9887111(Fwd) | intron_variant |
| rs1544606 | Chr16:9887653(Fwd) | intron_variant |
| rs9925243 | Chr16:9995057(Fwd) | intron_variant; nc_transcript_variant |
| rs9923240 | Chr16:9995177(Fwd) | intron_variant; nc_transcript_variant |
| rs2315274 | Chr16:9996060(Fwd) | intron_variant; nc_transcript_variant |
| rs11642239 | Chr16:9996580(Fwd) | intron_variant; nc_transcript_variant |
| rs16966381 | Chr16:9894522(Fwd) | intron_variant |
| rs11648283 | Chr16:9892800(Fwd) | intron_variant |
| rs2284237 | Chr16:9898450(Fwd) | intron_variant |
| rs2299934 | Chr16:9896460(Fwd) | intron_variant |
| rs7196095 | Chr16:9885832(Fwd) | intron_variant |
| rs7195942 | Chr16:9885807(Fwd) | intron_variant |
| rs2267791 | Chr16:9890776(Fwd) | intron_variant |
| rs1544604 | Chr16:9887244(Fwd) | intron_variant |
| rs11639526 | Chr16:9883002(Fwd) | intron_variant |
| rs2077923 | Chr16:9880781(Fwd) | intron_variant |
| rs1833161 | Chr16:9885027(Fwd) | intron_variant |
| rs2299933 | Chr16:9884314(Fwd) | intron_variant |
| rs1097730 | Chr16:10241739(Fwd) | intron_variant |
| rs1103127 | Chr16:10234764(Fwd) | intron_variant |
| rs11642956 | Chr16:10267790(Fwd) | intron_variant |
| rs1097784 | Chr16:10249416(Fwd) | intron_variant |
| rs1626306 | Chr16:10247248(Fwd) | intron_variant |
| rs1345423 | Chr16:10248064(Fwd) | intron_variant |
| rs6497732 | Chr16:10246481(Fwd) | intron_variant |
| rs1532934 | Chr16:10247026(Fwd) | intron_variant |
| rs2442098 | Chr16:10230219(Fwd) | intron_variant |
| rs1070482 | Chr16:10230908(Fwd) | intron_variant |
| rs1702265 | Chr16:10249882(Fwd) | intron_variant |
| rs1147993 | Chr16:10251010(Fwd) | intron_variant |
| rs981881 | Chr16:9877679(Fwd) | intron_variant |
| rs1097735 | Chr16:10239733(Fwd) | intron_variant |
| rs1097734 | Chr16:10239794(Fwd) | intron_variant |
| rs2872876 | Chr16:9996120(Fwd) | intron_variant; nc_transcript_variant |
| rs7191183 | Chr16:9900057(Fwd) | intron_variant |
| rs1070488 | Chr16:10237086(Fwd) | intron_variant |
| rs2052186 | Chr16:9986849(Fwd) | intron_variant; nc_transcript_variant |
| rs11643173 | Chr16:9893343(Fwd) | intron_variant |
| rs1097787 | Chr16:10239360(Fwd) | intron_variant |
| rs1070475 | Chr16:10243256(Fwd) | intron_variant |
| rs11643000 | Chr16:9893684(Fwd) | intron_variant |
| rs1070474 | Chr16:10243426(Fwd) | intron_variant |
| rs1070476 | Chr16:10240949(Fwd) | intron_variant |
| rs1097731 | Chr16:10241583(Fwd) | intron_variant |
| rs1070487 | Chr16:10235992(Fwd) | intron_variant |
Gene related CNVs (count: 0)
Gene related other variant (count: 4)
| Variant Name | Variant Type | Location in Gene | No. of Studies (significant/non-significant/trend) |
|---|---|---|---|
| GRIN2A_exon5_G325A | point mutation | exon 5 | 1 (1/0/0) |
| GRIN2A_exon6_G/A | point mutation | exon 6 | 1 (0/1/0) |
| GRIN2A_3'-UTR_#5765C/T | point mutation | 3' UTR | 1 (0/1/0) |
| GRIN2A_exon10_G695A | point mutation | exon 10 | 1 (0/1/0) |
Gene related regions (count: 0)
Gene related GO terms (count: 37)
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: 36)
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... |
| hsa04020 | Calcium signaling pathway | 63 | Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). 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... |
| 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 GRIN2A (count: 63)
Genes shared at least 2 KEGG pathways with GRIN2A (count: 59)
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Region: chr16:9847261..10276611 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014