Gene table of GRIN2B : glutamate ionotropic receptor NMDA type subunit 2B

Gene-disease associations table

Disease ID	Disease name	Source of annotation with GRIN2B	OMIM link	Number of associated genes	genes
PS156200	MENTAL RETARDATION, AUTOSOMAL DOMINANT	ClinVar, OMIM, HUMSAVAR	link to OMIM	44	EHMT1, MEF2C, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, NR1I3, PACS1, DPP6, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, AUTS2, CTNNB1, ARID1B, ZBTB18, CACNG2, MBD5, SMARCB1, KANSL1, SMARCE1, COL4A3BP, MYT1L, ADNP, SMARCA4, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A
PS308350	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE	ClinVar, OMIM, HUMSAVAR	link to OMIM	37	SZT2, EEF1A2, KCNT1, ALG13, ST3GAL3, WWOX, ITPA, SIK1, SCN1A, ARHGEF9, GNAO1, TBC1D24, DNM1, SLC35A2, SCN8A, SLC13A5, SLC25A22, HCN1, KCNB1, STXBP1, SCN9A, CDKL5, KCNQ2, SPTAN1, KCNA2, SCN2A, PLCB1, AARS, PCDH19, PNKP, SLC12A5, GABRA1, DOCK7, ARX, GRIN2B, NECAP1, PIGA

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Annotation of the gene GRIN2B

Associated genes in ENSEMBL

ENSG00000273079

Associated proteins - SwissProt Accession ID

Q13224

Associated PDB IDs

Cytogenetic Band

12p13.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Ras signaling pathway	hsa04014	4.9
Nicotine addiction	hsa05033	7.38
Systemic lupus erythematosus	hsa05322	5.95
Neuroactive ligand-receptor interaction	hsa04080	4.58
Cocaine addiction	hsa05030	7.07
cAMP signaling pathway	hsa04024	5.05
Long-term potentiation	hsa04720	6.64
Rap1 signaling pathway	hsa04015	4.97
Amphetamine addiction	hsa05031	6.62
Glutamatergic synapse	hsa04724	5.84
Alcoholism	hsa05034	5.59
Amyotrophic lateral sclerosis (ALS)	hsa05014	7.01
Dopaminergic synapse	hsa04728	5.69
Huntington's disease	hsa05016	5.17
Circadian entrainment	hsa04713	6.11
Alzheimer's disease	hsa05010	5.34

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
CREB phosphorylation through the activation of CaMKII	R-HSA-442729	9.08
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	R-HSA-2404192	4.85
Gastrin-CREB signalling pathway via PKC and MAPK	R-HSA-881907	4.26
NCAM signaling for neurite out-growth	R-HSA-375165	4.9
Signaling by Interleukins	R-HSA-449147	4.71
Post NMDA receptor activation events	R-HSA-438064	7.85
Signaling by Leptin	R-HSA-2586552	5.1
Frs2-mediated activation	R-HSA-170968	5.12
Cytokine Signaling in Immune system	R-HSA-1280215	3.74
EPHB-mediated forward signaling	R-HSA-3928662	7.62
IGF1R signaling cascade	R-HSA-2428924	4.85
Unblocking of NMDA receptor, glutamate binding and activation	R-HSA-438066	8.89
Ras activation uopn Ca2+ infux through NMDA receptor	R-HSA-442982	8.89
IRS-related events triggered by IGF1R	R-HSA-2428928	4.85
Signaling by ERBB4	R-HSA-1236394	4.7
IRS-mediated signalling	R-HSA-112399	4.87
MAPK1/MAPK3 signaling	R-HSA-5684996	5.11
CREB phosphorylation through the activation of Ras	R-HSA-442742	8.23
Developmental Biology	R-HSA-1266738	3.48
RAF/MAP kinase cascade	R-HSA-5673001	5.15
EPH-Ephrin signaling	R-HSA-2682334	6.43
Downstream signaling of activated FGFR1	R-HSA-5654687	4.71
MAPK family signaling cascades	R-HSA-5683057	4.89
Signalling by NGF	R-HSA-166520	4.23
Signaling by VEGF	R-HSA-194138	4.66
Signalling to p38 via RIT and RIN	R-HSA-187706	5.12
FCERI mediated MAPK activation	R-HSA-2871796	4.32
Signaling by EGFR	R-HSA-177929	4.59
FRS-mediated FGFR2 signaling	R-HSA-5654700	5.14
SOS-mediated signalling	R-HSA-112412	5.15
FRS-mediated FGFR3 signaling	R-HSA-5654706	5.14
Signaling by Insulin receptor	R-HSA-74752	4.73
Neuronal System	R-HSA-112316	4.82
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell	R-HSA-112314	5.85
Transmission across Chemical Synapses	R-HSA-112315	5.28
Signaling by FGFR4	R-HSA-5654743	4.69
Signaling by FGFR3	R-HSA-5654741	4.69
VEGFA-VEGFR2 Pathway	R-HSA-4420097	4.7
GRB2 events in ERBB2 signaling	R-HSA-1963640	5.15
Interleukin receptor SHC signaling	R-HSA-912526	5.09
Signaling by FGFR	R-HSA-190236	4.67
Downstream signaling of activated FGFR3	R-HSA-5654708	4.71
Fc epsilon receptor (FCERI) signaling	R-HSA-2454202	4.03
Immune System	R-HSA-168256	2.37
Downstream signaling of activated FGFR4	R-HSA-5654716	4.71
Innate Immune System	R-HSA-168249	3.17
Signaling by SCF-KIT	R-HSA-1433557	4.73
Interleukin-2 signaling	R-HSA-451927	5.05
SHC1 events in ERBB2 signaling	R-HSA-1250196	5.15
Signaling by ERBB2	R-HSA-1227986	4.66
Signalling to RAS	R-HSA-167044	5.08
DAP12 signaling	R-HSA-2424491	4.64
Interleukin-3, 5 and GM-CSF signaling	R-HSA-512988	4.99
Activation of NMDA receptor upon glutamate binding and postsynaptic events	R-HSA-442755	7.7
Downstream signaling of activated FGFR2	R-HSA-5654696	4.71
Signaling by FGFR1	R-HSA-5654736	4.69
SHC1 events in EGFR signaling	R-HSA-180336	5.15
NGF signalling via TRKA from the plasma membrane	R-HSA-187037	4.51
FRS-mediated FGFR1 signaling	R-HSA-5654693	5.14
Prolonged ERK activation events	R-HSA-169893	5.11
FRS-mediated FGFR4 signaling	R-HSA-5654712	5.14
Signaling by GPCR	R-HSA-372790	2.68
Signaling by FGFR2	R-HSA-5654738	4.68
GRB2 events in EGFR signaling	R-HSA-179812	5.15
Signalling to ERKs	R-HSA-187687	5.04
Insulin receptor signalling cascade	R-HSA-74751	4.85
ARMS-mediated activation	R-HSA-170984	5.12
DAP12 interactions	R-HSA-2172127	4.56
SHC1 events in ERBB4 signaling	R-HSA-1250347	5.15
Signaling by PDGF	R-HSA-186797	4.53
Axon guidance	R-HSA-422475	3.93
VEGFR2 mediated cell proliferation	R-HSA-5218921	5.07
Signal Transduction	R-HSA-162582	1.78
Downstream signal transduction	R-HSA-186763	4.65

Associated GO terms for Molecular function

GO term	GO ID	GO IC
binding	GO:0005488	0.18
Ras guanyl-nucleotide exchange factor activity	GO:0005088	4.31
signaling receptor activity	GO:0038023	2.49
guanyl-nucleotide exchange factor activity	GO:0005085	4.02
molecular transducer activity	GO:0060089	2.32
glutamate receptor activity	GO:0008066	6.44
zinc ion binding	GO:0008270	2.66
signal transducer activity	GO:0004871	2.28
molecular function regulator	GO:0098772	2.51
NMDA glutamate receptor activity	GO:0004972	7.66
ionotropic glutamate receptor activity	GO:0004970	6.79
glycine binding	GO:0016594	7.1
anion binding	GO:0043168	4.17
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
amino acid binding	GO:0016597	5.71
ligand-gated ion channel activity	GO:0015276	4.8
ion binding	GO:0043167	1.36
transmembrane transporter activity	GO:0022857	2.82
transmitter-gated ion channel activity	GO:0022824	6.41
passive transmembrane transporter activity	GO:0022803	3.6
metal ion binding	GO:0046872	1.41
extracellular ligand-gated ion channel activity	GO:0005230	5.42
neurotransmitter receptor activity	GO:0030594	5.5
protein binding	GO:0005515	0.46
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
excitatory extracellular ligand-gated ion channel activity	GO:0005231	5.73
extracellular-glutamate-gated ion channel activity	GO:0005234	6.74
substrate-specific transmembrane transporter activity	GO:0022891	2.9
substrate-specific transporter activity	GO:0022892	2.72
carboxylic acid binding	GO:0031406	4.64
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane signaling receptor activity	GO:0004888	2.57
channel activity	GO:0015267	3.6
gated channel activity	GO:0022836	3.96
transmitter-gated channel activity	GO:0022835	6.41
ligand-gated channel activity	GO:0022834	4.8
substrate-specific channel activity	GO:0022838	3.67
transmembrane receptor activity	GO:0099600	2.53
receptor activity	GO:0004872	2.32