Summary
GeneID 2903
Symbol grin2a
Synonyms EPND|FESD|GluN2A|LKS|NMDAR2A|NR2A
Description 谷氨酸离子受体NMDA型亚基2A
参考erence MIM:138253|HGNC:HGNC:4585|Ensembl:ENSG00000183454|HPRD:00698|Vega:OTTHUMG00000129721
基因类型 蛋白质编码
Map location 16p13.2
pascal p-value 2。298E-5
TADA p-value 0.024
DMG 2(# studies)
Support 配体门控离子信号传导
G2CDB.HUMAN_BAYES-COLLINS-HUMAN-PSD-FULL
G2CDB.HUMAN_BAYES-COLLINS-MOUSE-PSD-CONSUS
G2Cdb.human_mGluR5
G2CDB.HUMAN_TAP-PSD-95核
G2Cdb.humanNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
潜在的突触基因

Gene in Data Sources
基因集名称 Method of gene set Description 信息
简历:Gwascat Genome-wide Association Studies This data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb.
CV:GWASdb Genome-wide Association Studies 精神分裂症的GWASDB记录
CV:PGC128 Genome-wide Association Study 一个multi-stage schizophrenia GWAS of up to 36,989 cases and 113,075 controls. Reported by the Schizophrenia Working Group of PGC. 128 independent associations spanning 108 loci
CV:PGCnp Genome-wide Association Study GWAS
DMG:JAFFE_2016 全基因组DNA甲基化分析 This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. 2
DMG:Wockner_2014 全基因组DNA甲基化分析 该数据集包括4641个差异甲基化探针,对应于精神分裂症患者(n = 24)和对照组(n = 24)之间的2929个独特基因。 2
DNM:Fromer_2014 Whole Exome Sequencing analysis 这项研究报道了WES对623个精神分裂症三重奏的研究,该研究使用基因组DNA报告了DNM。
PMID:cooccur High-throughput literature-search PubMed中的系统搜索与SCZ关键字共发生的基因。总共包括3027个基因。
一个ssociation 一个combined odds ratio method (Sun等。2008), association studies 1 Link to SZGene
Literature High-throughput literature-search 与精神分裂症关键词共同存在:精神分裂症,精神分裂症,精神分裂症,精神分裂症 点击显示详细信息
GO_Annotation 将与神经相关的关键字映射到基因本体论注释 支安打与neuro-related关键词:15

Section I. Genetics and epigenetics annotation

@CV:PGC128

SNP ID 染色体 位置 一个llele p Function Gene 向上/向下距离
rs9922678 chr16 9946319 Ag 6.721E-9 intronic grin2a

@DNM表

Gene 染色体 位置 参考 alt 成绩单 一个一个change Mutation type Sift CG46 特征 学习
grin2a chr16 9857517 一个 G NM_000833
NM_001134407
NM_001134408
p.1295i> t
p.1295i> t
missense
missense
intronic
Schizophrenia DNM:Fromer_2014

@Differentially methylated gene

probe 染色体 位置 Nearest gene p(dis) Beta (dis) fdr(dis) 学习
cg15134033 16 10274415 grin2a 1。887E-4 0.24 0.034 DMG:Wockner_2014
cg03764381 16 10275410 grin2a 1.61 e-8 -0.009 5.96E-6 DMG:JAFFE_2016


第二节。转录组注释

一般基因表达(GTEX)

Not available

时间变化的基因表达(brainspan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
所示的栏表示表达分布的较低25%和上层25%。

大脑区域的顶级共表达基因

Top 10 positively co-expressed genes
Gene pearson's Correlation Spearman's Correlation
ZFP36 0.64 0.67
MT2A 0.62 0.61
CXCL1 0.61 0.53
SAT1 0.61 0.58
G一个DD45B 0.59 0.60
FOSL1 0.59 0.52
MT1F 0.59 0.50
TLCD1 0.59 0.59
MT1G 0.59 0.57
FXYD1 0.58 0.60
Top 10 negatively co-expressed genes
Gene pearson's Correlation Spearman's Correlation
CSRP2BP -0.54 -0.55
ppp2R2D -0.53 -0.57
arfgap2 -0.53 -0.53
pNMA1 -0.53 -0.56
WRNIP1 -0.52 -0.54
RAB1A -0.52 -0.57
PSMD1 -0.52 -0.50
AC119673.2 -0.52 -0.51
FAM50B -0.52 -0.54
Bcl2l1 -0.52 -0.56

第三节。基因本体论注释

分子功能 去学期 证据 神经关键字 pubMed ID
GO:0004972 N-甲基-D-天冬氨酸选择性谷氨酸受体活性 TAS glutamate (GO term level: 8) 8768735
GO:0004970 ionotropic glutamate receptor activity IEA glutamate (GO term level: 7) -
去:0005234 细胞外谷氨酸门控离子通道活性 IEA glutamate (GO term level: 11) -
GO:0035254 glutamate receptor binding IEA 谷氨酸(GO期限:5) -
去:0000287 magnesium ion binding IEA -
GO:0004872 receptor activity IEA -
去:0005509 calcium ion binding IEA -
去:0005515 蛋白质结合 IPI 17997397
GO:0005262 calcium channel activity IEA -
去:0005216 ion channel activity IEA -
Biological process 去学期 证据 神经关键字 pubMed ID
GO:0022008 neurogenesis IEA 神经发生(GO期限:6) -
去:0060079 regulation of excitatory postsynaptic membrane potential IEA 神经元,突触(GO期限:10) -
GO:0048167 突触可塑性的调节 IEA 突触(GO期限:8) -
去:0007215 谷氨酸信号通路 TAS glutamate (GO term level: 7) 8768735
GO:0030431 睡觉 IEA 大脑(GO期限:3) -
GO:0042428 5-羟色胺代谢过程 IEA 5-羟色胺,神经递质(GO期限:8) -
GO:0042417 dopamine metabolic process IEA Neurotransmitter, dopamine (GO term level: 8) -
GO:0001964 惊吓反应 IEA -
GO:0001975 反应to amphetamine IEA -
去:0008542 visual learning IEA -
GO:0009611 对伤害的反应 IEA -
去:0007613 memory IEA -
GO:0008104 protein localization IEA -
去:0006816 钙离子传输 IEA -
去:0006811 ion transport IEA -
GO:0042177 negative regulation of protein catabolic process IEA -
GO:0033058 方向运动 IEA -
GO:0042493 反应to drug IEA -
GO:0045471 反应to ethanol IDA 18445116
GO:0051930 regulation of sensory perception of pain IEA -
Cellular component 去学期 证据 神经关键字 pubMed ID
GO:0042734 presynaptic membrane IEA 神经元,轴突,突触(GO术语级别:5) -
GO:0014069 突触后密度 IEA 突触(GO期限:10) -
GO:0019717 突触体 IEA Synap, Brain (GO term level: 7) -
GO:0017146 N-methyl-D-aspartate selective glutamate receptor complex IDA 谷氨酸,突触(GO期限:10) 10480938
GO:0045211 postsynaptic membrane IEA 突触,神经递质(GO期限:5) -
GO:0045202 突触 IEA neuron, Synap, Neurotransmitter, Glial (GO term level: 2) -
去:0005737 cytoplasm IDA 18029348
GO:0016021 膜不可或缺 IEA -
去:0005886 plasma membrane IEA -
去:0005887 integral to plasma membrane TAS 8768735
GO:0030054 cell junction IEA -

Section IV. Protein-protein interaction annotation

互动者 别名b 官方全名b 实验 Source pubMed ID
一个CTN1 FLJ40884 肌动蛋白,alpha 1 - HPRD 11854440
DLG1 DKFZP761P0818 |DKFZP781B0426 |dlgh1 |SAP97 |DJ1061C18.1.1 |HDLG discs, large homolog 1 (Drosophila) - HPRD,BioGRID 12933808
DLG2 DKFZP781D1854 |DKFZP781E0954 |FLJ37266 |MGC131811 |PSD-93 discs, large homolog 2, chapsyn-110 (Drosophila) - HPRD 10648730
DLG2 DKFZP781D1854 |DKFZP781E0954 |FLJ37266 |MGC131811 |PSD-93 discs, large homolog 2, chapsyn-110 (Drosophila) Two-hybrid Biogrid 9278515
DLG3 KIAA1232 |MRX |MRX90 |NE-DLG |nedlg |SAP102 圆盘,大型同源物3(果蝇神经内分泌-DLG,果蝇) 体外
in vivo
Two-hybrid
Biogrid 9278515|11937501
DLG3 KIAA1232 |MRX |MRX90 |NE-DLG |nedlg |SAP102 圆盘,大型同源物3(果蝇神经内分泌-DLG,果蝇) - HPRD 11937501|12070168
DLG4 FLJ97752 | FLJ98574 | PSD95 | SAP90 圆盘,大型同源物4(果蝇) - HPRD 7569905|11937501
|12419528
DLG4 FLJ97752 | FLJ98574 | PSD95 | SAP90 圆盘,大型同源物4(果蝇) 亲和力捕获 - 韦斯特恩
体外
in vivo
重构的复合物
Two-hybrid
Biogrid 7569905|9278515
|9286858|10648730
|11937501|12419528
DLGAP1 DAP-1 | DAP-1-ALPHA | DAP-1-BETA | GKAP | MGC88156 | SAPAP1 | hGKAP 圆盘,大(果蝇)同源物相关蛋白1 - HPRD,BioGRID 9286858
FYN MGC45350 | SLK | SYN Fyn Oncogene与SRC,FGR,是的 亲和力捕获 - 韦斯特恩
重构的复合物
Biogrid 9892651|10458595
|12419528|12932824
FYN MGC45350 | SLK | SYN Fyn Oncogene与SRC,FGR,是的 - HPRD 10458595|12932824
GRIN1 NMDA1 | NMDAR1 | NR1 谷氨酸受体,离子型,N-甲基D-天冬氨酸1 NR1A与NR2A相互作用。 绑定 11279200
GRIN1 NMDA1 | NMDAR1 | NR1 谷氨酸受体,离子型,N-甲基D-天冬氨酸1 - HPRD 8139656|10862698
|11803122|12068077
|12191494|12893641
|14732708
GRIN1 NMDA1 | NMDAR1 | NR1 谷氨酸受体,离子型,N-甲基D-天冬氨酸1 亲和力捕获 - 韦斯特恩 Biogrid 12391275
grin3b NR3B glutamate receptor, ionotropic, N-methyl-D-aspartate 3B 亲和力捕获 - 韦斯特恩 Biogrid 12008020
IL16 FLJ16806 |FLJ42735 |FLJ44234 |HST19289 |IL-16 |LCF |Pril-16 白介素16(淋巴细胞趋化因子) NPRO-IL-16与NR2A相互作用。 绑定 12923170
IL16 FLJ16806 |FLJ42735 |FLJ44234 |HST19289 |IL-16 |LCF |Pril-16 白介素16(淋巴细胞趋化因子) - HPRD,BioGRID 10479680
inadl Cipp | FLJ26982 | InaD-like | PATJ 类似果蝇(果蝇) - HPRD 9647694
pTK2B Cadtk |cakb |fadk2 |fak2 |frnk |PKB |PTK |pyk2 |筏 pTK2B protein tyrosine kinase 2 beta - HPRD,BioGRID 11478920
pTPN4 pTPMEG | PTPMEG1 蛋白质酪氨酸磷酸酶,非受体4型(巨核细胞) - HPRD,BioGRID 10748123
RICS GC-GAP | GRIT | KIAA0712 | MGC1892 | p200RhoGAP | p250GAP Rho GTPase激活蛋白 - HPRD 12531901
SRC 一个SV | SRC1 | c-SRC | p60-Src V-SRC肉瘤(Schmidt-Ruppin A-2)病毒癌基因同源物(Avian) 亲和力捕获 - 韦斯特恩
重构的复合物
Biogrid 10458595|12932824
SRC 一个SV | SRC1 | c-SRC | p60-Src V-SRC肉瘤(Schmidt-Ruppin A-2)病毒癌基因同源物(Avian) - HPRD 10458595|10884433
|12932824


Section V. Pathway annotation

路径名 路径大小 # SZGR 2.0 genes in pathway 信息
kegg钙信号通路 178 134 一个ll SZGR 2.0 genes in this pathway
KEGG NEUROACTIVE LIGAND RECEPTOR INTERACTION 272 195 一个ll SZGR 2.0 genes in this pathway
KEGG LONG TERM POTENTIATION 70 57 一个ll SZGR 2.0 genes in this pathway
KEGG ALZHEIMERS DISEASE 169 110 一个ll SZGR 2.0 genes in this pathway
KEGG AMYOTROPHIC LATERAL SCLEROSIS ALS 53 43 一个ll SZGR 2.0 genes in this pathway
kegg系统性狼疮红斑 140 100 一个ll SZGR 2.0 genes in this pathway
BIOCARTA NOS1 PATHWAY 24 21 一个ll SZGR 2.0 genes in this pathway
pID REELIN PATHWAY 29 29 一个ll SZGR 2.0 genes in this pathway
REACTOME TRANSMISSION ACROSS CHEMICAL SYNAPSES 186 155 一个ll SZGR 2.0 genes in this pathway
REACTOME NEURONAL SYSTEM 279 221 一个ll SZGR 2.0 genes in this pathway
反应组神经递质受体结合和突触后细胞中的下游传播 137 110 一个ll SZGR 2.0 genes in this pathway
REACTOME RAS ACTIVATION UOPN CA2 INFUX THROUGH NMDA RECEPTOR 17 15 一个ll SZGR 2.0 genes in this pathway
REACTOME ACTIVATION OF NMDA RECEPTOR UPON GLUTAMATE BINDING AND POSTSYNAPTIC EVENTS 37 32 一个ll SZGR 2.0 genes in this pathway
REACTOME CREB PHOSPHORYLATION THROUGH THE ACTIVATION OF RAS 27 23 一个ll SZGR 2.0 genes in this pathway
反应组后NMDA受体激活事件 33 28 一个ll SZGR 2.0 genes in this pathway
NMDA受体谷氨酸结合和激活的反应组释放 15 14 一个ll SZGR 2.0 genes in this pathway
Reactome Creb通过CAMKII的激活来磷酸化 15 14 一个ll SZGR 2.0 genes in this pathway
Sengupta鼻咽癌与LMP1 DN 175 82 一个ll SZGR 2.0 genes in this pathway
周的炎症反应生活 485 293 一个ll SZGR 2.0 genes in this pathway
GOZGIT ESR1 TARGETS DN 781 465 一个ll SZGR 2.0 genes in this pathway
一个MUNDSON GENOTOXIC SIGNATURE 105 68 一个ll SZGR 2.0 genes in this pathway
HATADA METHYLATED IN LUNG CANCER UP 390 236 一个ll SZGR 2.0 genes in this pathway
Wong IFNA2电阻DN 34 20 一个ll SZGR 2.0 genes in this pathway
pENG GLUTAMINE DEPRIVATION DN 337 230 一个ll SZGR 2.0 genes in this pathway
LU AGING BRAIN DN 153 120 一个ll SZGR 2.0 genes in this pathway
BLALOCK ALZHEIMERS DISEASE DN 1237 837 一个ll SZGR 2.0 genes in this pathway
LABBE WNT3A TARGETS DN 97 53 一个ll SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536 296 一个ll SZGR 2.0 genes in this pathway
MIKKELSEN MEF HCP WITH H3K27ME3 590 403 一个ll SZGR 2.0 genes in this pathway
Kim所有疾病Calb1 Corr Up 548 370 一个ll SZGR 2.0 genes in this pathway
ZWANG TRANSIENTLY UP BY 1ST EGF PULSE ONLY 1839 928 一个ll SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

mirna家族 Target position miRNA ID mirna seq
UTR开始 UTR结束 匹配方法
miR-125/351 904 910 M8 hsa-miR-125bbrain ucccugagacccuaacuuguga
hsa-miR-125abrain UCCCUGAGACCCUUUAACCUGUG
miR-137 416 423 1A,M8 HSA-MIR-137 uauugcuuaagaauacgcguag
miR-19 142 149 1A,M8 HSA-MIR-19A UGUGCAAAUCUAUGCAAAACUGA
HSA-MIR-19B UGUGCAAAUCCAUGCAAAACUGA
miR-381 911 917 1一个 HSA-MIR-381 UAUACAAGGGCAAGCUCUCUGU
mir-431 656 662 1一个 hsa-miR-431 uguugcaggccguauga
mir-7 166 172 1一个 hsa-miR-7SZ UGGAAGACUAGUGAUUUUGUUG