Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2904
Gene name	Glutamate ionotropic receptor NMDA type subunit 2B
Gene symbol	GRIN2B
Synonyms (NCBI Gene)	DEE27EIEE27GluN2BMRD6NMDAR2BNR2BNR3hNR3
Chromosome	12
Chromosome location	12p13.1
Summary	This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The

Show/Hide all (57)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138771137	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs141109968	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs199526748	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs199707487	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs200608452	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs201439880	G>A,C	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs201672517	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs202223470	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs374746622	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs375217280	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906636	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs398122823	->G	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs398122824	T>C	Pathogenic	Splice acceptor variant
rs796052578	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs797044849	C>A,G,T	Likely-pathogenic, pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs864309560	G>T	Pathogenic	Missense variant, coding sequence variant
rs869312669	T>G	Uncertain-significance, pathogenic	Coding sequence variant, intron variant, missense variant
rs876661055	A>G	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs876661064	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs876661076	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs876661102	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs876661167	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs876661219	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, intron variant, missense variant
rs879253931	G>A	Pathogenic	Coding sequence variant, stop gained
rs879254013	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886041095	C>T	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs1057518520	->GAGC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057518800	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518988	T>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1057519611	C>A,T	Likely-pathogenic, pathogenic	Splice donor variant, genic upstream transcript variant
rs1057519612	T>C	Pathogenic	Splice acceptor variant
rs1060499526	GT>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1064794979	C>T	Pathogenic	Missense variant, coding sequence variant
rs1064796752	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307547	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1168374610	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555101670	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555102552	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555103150	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs1555103159	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555103646	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1555103652	A>C	Likely-pathogenic	Initiator codon variant, missense variant, coding sequence variant
rs1555103971	C>T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs1555103995	G>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs1555133006	CA>-	Pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant
rs1555133077	C>A	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1565453023	AT>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565457924	C>T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1591605498	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1591605549	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591606580	A>T	Pathogenic	Stop gained, coding sequence variant
rs1591609065	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1591609136	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1591611001	A>C	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1591612223	T>C	Pathogenic	Intron variant
rs1591612317	T>C	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1591612370	->GGTGAGAAGTCATTAGGTCTCTGGAACTGG	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant

276

Show/Hide all (276)

miRTarBase ID	miRNA	Experiments	Reference
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT657587	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657585	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT657584	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT668055	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT668054	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT668053	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668052	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT657583	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT657582	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT657591	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT657590	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT657589	hsa-miR-4297	HITS-CLIP	23824327
MIRT657588	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT657587	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657586	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT657585	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT657584	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT657583	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT657582	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT636493	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT636492	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT636491	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT636490	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT636489	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT523391	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT523390	hsa-miR-567	PAR-CLIP	21572407
MIRT523389	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT523388	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT523387	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT523386	hsa-miR-3924	PAR-CLIP	21572407
MIRT523385	hsa-miR-297	PAR-CLIP	21572407
MIRT523384	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT537030	hsa-miR-1179	PAR-CLIP	22012620
MIRT537029	hsa-miR-6858-3p	PAR-CLIP	22012620
MIRT537028	hsa-miR-4267	PAR-CLIP	22012620
MIRT537027	hsa-miR-7110-3p	PAR-CLIP	22012620
MIRT537026	hsa-miR-6817-3p	PAR-CLIP	22012620
MIRT537025	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT537024	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT537023	hsa-miR-6873-3p	PAR-CLIP	22012620
MIRT537022	hsa-miR-4303	PAR-CLIP	22012620
MIRT537021	hsa-miR-6807-5p	PAR-CLIP	22012620
MIRT537019	hsa-miR-4768-5p	PAR-CLIP	22012620
MIRT537020	hsa-miR-6833-3p	PAR-CLIP	22012620
MIRT523392	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT523391	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT523390	hsa-miR-567	PAR-CLIP	23446348
MIRT523389	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT523388	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT523387	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT523386	hsa-miR-3924	PAR-CLIP	23446348
MIRT523385	hsa-miR-297	PAR-CLIP	23446348
MIRT523384	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT732627	hsa-miR-223-3p	RNA-seq	31775160
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT657587	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657585	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT657584	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT668055	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT668054	hsa-miR-5699-5p	HITS-CLIP	23824327
MIRT668053	hsa-miR-4691-5p	HITS-CLIP	23824327
MIRT668052	hsa-miR-6792-3p	HITS-CLIP	23824327
MIRT657583	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT657582	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT657591	hsa-miR-3614-3p	HITS-CLIP	23824327
MIRT657590	hsa-miR-6849-3p	HITS-CLIP	23824327
MIRT657589	hsa-miR-4297	HITS-CLIP	23824327
MIRT657588	hsa-miR-5581-5p	HITS-CLIP	23824327
MIRT657587	hsa-miR-3184-3p	HITS-CLIP	23824327
MIRT657586	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT657585	hsa-miR-3691-3p	HITS-CLIP	23824327
MIRT657584	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT657583	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT657582	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT636493	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT636492	hsa-miR-6795-3p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT636491	hsa-miR-532-3p	HITS-CLIP	23824327
MIRT636490	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT636489	hsa-miR-6515-3p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT634656	hsa-miR-3180-5p	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623746	hsa-miR-126-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT623745	hsa-miR-6502-3p	HITS-CLIP	23824327
MIRT623744	hsa-miR-5196-3p	HITS-CLIP	23824327
MIRT623743	hsa-miR-1470	HITS-CLIP	23824327
MIRT623742	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT623741	hsa-miR-4469	HITS-CLIP	23824327
MIRT623740	hsa-miR-4769-3p	HITS-CLIP	23824327
MIRT623739	hsa-miR-520a-5p	HITS-CLIP	23824327
MIRT623738	hsa-miR-525-5p	HITS-CLIP	23824327
MIRT623737	hsa-miR-6749-3p	HITS-CLIP	23824327
MIRT623736	hsa-miR-495-5p	HITS-CLIP	23824327
MIRT623735	hsa-miR-500a-5p	HITS-CLIP	23824327
MIRT623734	hsa-miR-3160-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	HITS-CLIP	23824327
MIRT614963	hsa-miR-4766-5p	HITS-CLIP	23824327
MIRT523387	hsa-miR-190a-3p	HITS-CLIP	23824327
MIRT614962	hsa-miR-4762-3p	HITS-CLIP	23824327
MIRT523384	hsa-miR-1277-5p	HITS-CLIP	23824327
MIRT523392	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT523391	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT523390	hsa-miR-567	PAR-CLIP	21572407
MIRT523389	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT523388	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT523387	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT523386	hsa-miR-3924	PAR-CLIP	21572407
MIRT523385	hsa-miR-297	PAR-CLIP	21572407
MIRT523384	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT537030	hsa-miR-1179	PAR-CLIP	22012620
MIRT537029	hsa-miR-6858-3p	PAR-CLIP	22012620
MIRT537028	hsa-miR-4267	PAR-CLIP	22012620
MIRT537027	hsa-miR-7110-3p	PAR-CLIP	22012620
MIRT537026	hsa-miR-6817-3p	PAR-CLIP	22012620
MIRT537025	hsa-miR-1199-5p	PAR-CLIP	22012620
MIRT537024	hsa-miR-6751-3p	PAR-CLIP	22012620
MIRT537023	hsa-miR-6873-3p	PAR-CLIP	22012620
MIRT537022	hsa-miR-4303	PAR-CLIP	22012620
MIRT537021	hsa-miR-6807-5p	PAR-CLIP	22012620
MIRT537019	hsa-miR-4768-5p	PAR-CLIP	22012620
MIRT537020	hsa-miR-6833-3p	PAR-CLIP	22012620
MIRT523392	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT523391	hsa-miR-511-3p	PAR-CLIP	23446348
MIRT523390	hsa-miR-567	PAR-CLIP	23446348
MIRT523389	hsa-miR-223-5p	PAR-CLIP	23446348
MIRT523388	hsa-miR-6867-5p	PAR-CLIP	23446348
MIRT523387	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT523386	hsa-miR-3924	PAR-CLIP	23446348
MIRT523385	hsa-miR-297	PAR-CLIP	23446348
MIRT523384	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT2006802	hsa-miR-3120-5p	CLIP-seq
MIRT2006803	hsa-miR-3187-3p	CLIP-seq
MIRT2006804	hsa-miR-374c	CLIP-seq
MIRT2006805	hsa-miR-4529-5p	CLIP-seq
MIRT2006806	hsa-miR-4742-3p	CLIP-seq
MIRT2006807	hsa-miR-4802-3p	CLIP-seq
MIRT2006808	hsa-miR-655	CLIP-seq
MIRT2388774	hsa-miR-331-3p	CLIP-seq
MIRT2388775	hsa-miR-370	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
HDAC1	Activation	19081374

Show/Hide all (93)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	NAS	26719327
GO:0004972	Function	NMDA glutamate receptor activity	IBA
GO:0004972	Function	NMDA glutamate receptor activity	IDA	24272827, 26919761, 38538865
GO:0004972	Function	NMDA glutamate receptor activity	IEA
GO:0004972	Function	NMDA glutamate receptor activity	ISS
GO:0004972	Function	NMDA glutamate receptor activity	TAS	8768735, 17526495
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11937501, 17047094, 17997397, 19453375, 20018661, 24550280, 28130356, 30126976, 34321660, 35914814
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	17526495
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IEA
GO:0005770	Component	Late endosome	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	26875626, 26919761, 27839871
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	NAS	34321660
GO:0005886	Component	Plasma membrane	TAS	8768735
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	8768735
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	10485705
GO:0007420	Process	Brain development	NAS	17526495
GO:0007611	Process	Learning or memory	ISS
GO:0007611	Process	Learning or memory	TAS	10485705
GO:0008270	Function	Zinc ion binding	ISS
GO:0009986	Component	Cell surface	ISS	17526495
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016594	Function	Glycine binding	IDA	17047094
GO:0016595	Function	Glutamate binding	ISS
GO:0017146	Component	NMDA selective glutamate receptor complex	IBA
GO:0017146	Component	NMDA selective glutamate receptor complex	IDA	10480938, 17047094, 26875626, 26919761
GO:0017146	Component	NMDA selective glutamate receptor complex	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	IPI	34321660
GO:0017146	Component	NMDA selective glutamate receptor complex	ISS
GO:0017146	Component	NMDA selective glutamate receptor complex	TAS	17526495
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IDA	26875626
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IMP	27839871
GO:0030425	Component	Dendrite	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	ISS
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	NAS	34321660
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0045211	Component	Postsynaptic membrane	NAS	15317856
GO:0045211	Component	Postsynaptic membrane	TAS	24607229
GO:0045471	Process	Response to ethanol	IDA	18445116
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	ISS
GO:0048167	Process	Regulation of synaptic plasticity	NAS	17526495
GO:0048168	Process	Regulation of neuronal synaptic plasticity	NAS	15003177
GO:0051290	Process	Protein heterotetramerization	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	NAS	15003177
GO:0060079	Process	Excitatory postsynaptic potential	IBA
GO:0060291	Process	Long-term synaptic potentiation	IBA
GO:0097060	Component	Synaptic membrane	ISS
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IDA	26875626
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IEA
GO:0097553	Process	Calcium ion transmembrane import into cytosol	IMP	27839871
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	24272827, 38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	ISS
GO:0098655	Process	Monoatomic cation transmembrane transport	NAS	34321660
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098976	Process	Excitatory chemical synaptic transmission	NAS	17526495
GO:0099505	Process	Regulation of presynaptic membrane potential	IEA
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IDA	19666514
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	IMP	19666514
GO:0099507	Function	Ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential	NAS	19666514
GO:1902951	Process	Negative regulation of dendritic spine maintenance	ISS
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	ISS
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	NAS	34321660
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	NAS	15003177

MIM	HGNC	e!Ensembl
138252	4586	ENSG00000273079

Q13224

Protein name

Glutamate receptor ionotropic, NMDA 2B (GluN2B) (Glutamate [NMDA] receptor subunit epsilon-2) (N-methyl D-aspartate receptor subtype 2B) (NMDAR2B) (NR2B) (N-methyl-D-aspartate receptor subunit 3) (NR3) (hNR3)

Protein function

Component of N-methyl-D-aspartate (NMDA) receptors (NMDARs) that function as heterotetrameric, ligand-gated cation channels with high calcium permeability and voltage-dependent block by Mg(2+) (PubMed:24272827, PubMed:24863970, PubMed:26875626,

PDB

5EWJ , 5EWL , 5EWM , 7EU8 , 7KL0 , 7KL1 , 7KL2 , 7UIS , 7UJP , 7UJQ , 7UJR , 7UJS , 7UJT , 8VUU , 8VUV , 9D37 , 9D38 , 9D39 , 9D3A , 9D3B , 9D3C

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	60 → 371	Receptor family ligand binding region	Family
PF10613	Lig_chan-Glu_bd	404 → 542	Ligated ion channel L-glutamate- and glycine-binding site	Domain
PF00060	Lig_chan	555 → 829	Ligand-gated ion channel	Family
PF10565	NMDAR2_C	840 → 1484	N-methyl D-aspartate receptor 2B3 C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Primarily found in the fronto-parieto-temporal cortex and hippocampus pyramidal cells, lower expression in the basal ganglia. {ECO:0000269|PubMed:9547169}.

Sequence

MKPRAECCSPKFWLVLAVLAVSGSRARSQKSPPSIGIAVILVGTSDEVAIKDAHEKDDFH
HLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTL
TPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQ
DFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYI
FEVANSVGLTGYGYTWIVPSLVAGDTDTVPAEFPTGLISVSYDEWDYGLPARVRDGIAII
TTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHP
KLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVE
SVDPLSGTCMRNTVPCQKRIVTENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYL
VTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDFSVPFIETGISVMVSR
SNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSF
TIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYV
DQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLS
LKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGSGKVFASTGYGIAIQKDSGWKRQVDLAI
LQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYMLGAAMALSLITFICEH
LFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILR
LLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFS
DYISEVERTFGNLQLKDSNVYQDHYHHHHRPHSIGSASSIDGLYDCDNPPFTTQSRSISK
KPLDIGLPSSKHSQLSDLYGKFSFKSDRYSGHDDLIRSDVSDISTHTVTYGNIEGNAAKR
RKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTK
ENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHIKHGTGDKHGVVSGVPAPWEKN
LTNVEWEDRSGGNFCRSCPSKLHNYSTTVTGQNSGRQACIRCEACKKAGNLYDISEDNSL
QELDQPAAPVAVTSNASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPR
SVSLKDKGRFMDGSPYAHMFEMSAGESTFANNKSSVPTAGHHHHNNPGGGYMLSKSLYPD
RVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKARPDFRALVTNKPVVSALHGAVPA
RFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV

Sequence length

1484

Interactions

View interactions

	KEGG		Reactome
	Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway cAMP signaling pathway Neuroactive ligand-receptor interaction Circadian entrainment Long-term potentiation Glutamatergic synapse Dopaminergic synapse Alzheimer disease Amyotrophic lateral sclerosis Huntington disease Spinocerebellar ataxia Prion disease Pathways of neurodegeneration - multiple diseases Cocaine addiction Amphetamine addiction Nicotine addiction Alcoholism Systemic lupus erythematosus		EPHB-mediated forward signaling Unblocking of NMDA receptors, glutamate binding and activation RAF/MAP kinase cascade Synaptic adhesion-like molecules Assembly and cell surface presentation of NMDA receptors

2646

Show/Hide Causal Diseases (25)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Astigmatism	Likely pathogenic; Pathogenic	rs876661151	RCV000415209
Ataxia	Likely pathogenic; Pathogenic	rs876661219, rs1057518988	RCV000415402 RCV000414945
Atypical behavior	Likely pathogenic	rs1555103646	RCV000626715
Autism spectrum disorder	Pathogenic	rs2497984939	RCV003127386
Autistic behavior	Likely pathogenic	rs1555103646	RCV000626715
Autosomal dominant non-syndromic intellectual disability	Likely pathogenic; Pathogenic	rs1555112396	RCV002287490
Complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2136409777, rs1555103986, rs796052571, rs1555110843, rs797044849, rs869312868, rs876661055, rs879253931, rs886041295, rs886043237, rs1057519004, rs774592932, rs1064794979, rs1064796752, rs1085307547 View all (12 more)	RCV006249813 RCV001265478 RCV001265244 RCV001265249 RCV001265246 RCV001265248 RCV001265388 RCV001265385 RCV001265472 RCV001265251 RCV001265247 RCV001265387 RCV001265381 RCV001265476 RCV001265378 RCV001265479 RCV001265245 RCV001265242 RCV001265383 RCV001265384 RCV001265471 RCV001265474 RCV001265475 RCV001265389 RCV001265386 RCV001265473 RCV001265379 RCV001265243 RCV001265382
Delayed speech and language development	Likely pathogenic; Pathogenic	rs876661151	RCV000415209
Developmental and epileptic encephalopathy, 27	Pathogenic; Likely pathogenic	rs2136470302, rs771157135, rs2136413399, rs1949320223, rs2136403635, rs2136415648, rs2136470509, rs2136629609, rs2136415913, rs2136479365, rs1555103172, rs1555103652, rs2497597907, rs672601376, rs672601377 View all (53 more)	RCV002568012 RCV001533146 RCV001706824 RCV002283556 RCV001923890 RCV001935094 RCV002008382 RCV001977759 RCV001966508 RCV001958738 RCV001910154 RCV003094012 RCV002287579 RCV000149503 RCV000149504 RCV005411355 RCV006262015 RCV000495871 RCV001852460 RCV000464558 RCV002877177 RCV003032810 RCV003043710 RCV003032709 RCV003040838 RCV001004753 RCV000812933 RCV002519747 RCV005222844 RCV005222843 RCV003154636 RCV000688926 RCV002518437 RCV002518798 RCV000655320 RCV003314357 RCV003777305 RCV003322731 RCV003333646 RCV003803541 RCV003803717 RCV003803941 RCV003803984 RCV003801262 RCV003809032 RCV000502504 RCV001376742 RCV003766167 RCV001823138 RCV000449489 RCV000496146 RCV000689699 RCV002466416 RCV000655318 RCV000704324 RCV000696677 RCV000760198 RCV000813802 RCV000821057 RCV000985085 RCV001027688 RCV001028036 RCV001042521 RCV001046343 RCV001862473 RCV001809986 RCV001253690 RCV001175144 RCV001214413 RCV001229836 RCV003770348 RCV001270427
Developmental delay	Likely pathogenic	rs1057518800	RCV000414776
Developmental disorder	Likely pathogenic; Pathogenic	rs869312868, rs866636096, rs2497590335	RCV003126605 RCV003127356 RCV003127366
Epilepsy	Likely pathogenic; Pathogenic	rs1057518988	RCV000414945
Global developmental delay	Likely pathogenic	rs2497482289	RCV001255384
GRIN2B-related disorder	Likely pathogenic; Pathogenic	rs797044849, rs2497471018, rs1085307547, rs1591612317, rs2497598118	RCV004529382 RCV004527861 RCV003233648 RCV004723112 RCV005250123 RCV004538546
intellectual deficiency	Likely pathogenic; Pathogenic	rs876661219, rs1057518988, rs1057519004	RCV000415402 RCV000414945 RCV000414971
Intellectual disability	Likely pathogenic; Pathogenic	rs672601378, rs869312868, rs876661055, rs1057518800, rs876661151, rs774592932, rs387906636, rs1085307547, rs398122823, rs1555103971, rs1555103646, rs1591612223, rs2497598118, rs1191352284, rs1950069464	RCV001260644 RCV004017491 RCV001260713 RCV000414776 RCV005625583 RCV001260712 RCV001260642 RCV001260640 RCV001260648 RCV001260643 RCV000626715 RCV000851493 RCV001260647 RCV001260645 RCV001260641
Intellectual disability, autosomal dominant 6	Pathogenic; Likely pathogenic	rs2136470302, rs771157135, rs1949425904, rs2136479389, rs2136403635, rs2136415648, rs2136470509, rs2136629609, rs2136415913, rs2136479365, rs1555103172, rs527236034, rs1949368766, rs2136409732, rs2136409777 View all (122 more)	RCV001788528 RCV001533146 RCV001706931 RCV001730125 RCV001923890 RCV001935094 RCV002008382 RCV001977759 RCV001966508 RCV001958738 RCV001910154 RCV000132723 RCV002227007 RCV002249065 RCV002249068 RCV002249069 RCV002250033 RCV002250034 RCV002250035 RCV002250036 RCV002250037 RCV002251219 RCV002266801 RCV002272721 RCV002288271 RCV001172367 RCV001172364 RCV000149505 RCV002306279 RCV004784063 RCV002466330 RCV002466794 RCV005869849 RCV001172322 RCV001172372 RCV000495871 RCV001172363 RCV000464558 RCV001172373 RCV002877177 RCV001172328 RCV003032810 RCV003043710 RCV003032709 RCV003040838 RCV000210391 RCV000812933 RCV001172337 RCV001172330 RCV000625193 RCV001172324 RCV001172326 RCV001172320 RCV001172375 RCV003152882 RCV003154636 RCV000688926 RCV001172331 RCV003224989 RCV000258920 RCV000655320 RCV003234835 RCV003314211 RCV003314235 RCV003777305 RCV005249512 RCV003405214 RCV003803541 RCV003803717 RCV003803941 RCV003803984 RCV003801262 RCV003809032 RCV003983753 RCV003985203 RCV003990351 RCV003989470 RCV003991353 RCV004555306 RCV004586469 RCV000696914 RCV001172325 RCV000988791 RCV000414856 RCV001252256 RCV002522738 RCV000022580 RCV000022581 RCV000022582 RCV000022583 RCV001172340 RCV002063832 RCV000032861 RCV001172356 RCV000578652 RCV000032862 RCV000032863 RCV000032864 RCV000032865 RCV000680001 RCV000655318 RCV000704324 RCV000696677 RCV000760198 RCV000813802 RCV000821057 RCV001172329 RCV000988787 RCV000988788 RCV000988789 RCV000988790 RCV000988792 RCV001027688 RCV001042521 RCV001046343 RCV001072144 RCV001172349 RCV001172339 RCV001172336 RCV001172327 RCV001172357 RCV001172323 RCV001172321 RCV001172376 RCV001172374 RCV001172371 RCV001172370 RCV001172369 RCV001172366 RCV001172365 RCV001172362 RCV001172354 RCV001172353 RCV001172352 RCV001172350 RCV001172348 RCV001172355 RCV001172346 RCV001172345 RCV001172344 RCV001172343 RCV003883167 RCV001192666 RCV001229836 RCV001252255 RCV001258335 RCV001270427 RCV005622092 RCV001283816
Joint hypermobility	Likely pathogenic; Pathogenic	rs876661151	RCV000415209
Long fingers	Likely pathogenic; Pathogenic	rs876661151	RCV000415209
Motor delay	Likely pathogenic; Pathogenic	rs876661151	RCV000415209
Neurodevelopmental disorder	Likely pathogenic	rs2497684685	RCV003389203
Ovarian serous cystadenocarcinoma	Likely pathogenic; Pathogenic	rs886041295	RCV005895475
See cases	Likely pathogenic; Pathogenic	rs2136406056, rs2136409494, rs2497602992, rs1057519004	RCV001420295 RCV001420282 RCV003985708 RCV002252116
Seizure	Likely pathogenic	rs1555103646	RCV000626715
Squamous cell carcinoma of the head and neck	Pathogenic	rs1555119408	RCV005908884

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cerebral palsy	Conflicting classifications of pathogenicity	rs199801114	RCV001796512
Colorectal cancer	Benign	rs1436757161	RCV005912419
developmental delay with intractable seizures	Uncertain significance	rs773762599	RCV000678805
Epileptic encephalopathy	Uncertain significance	rs1057519553	RCV000416940
GRIN2B-related complex neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs879253945	RCV006257297
Intellectual Disability, Dominant	Uncertain significance; Conflicting classifications of pathogenicity	rs199764468, rs751398824, rs151270374, rs886049096, rs748524822, rs886049098	RCV000362004 RCV000381663 RCV000262331 RCV000356347 RCV000384107 RCV000276632
Landau-Kleffner syndrome	Uncertain significance	rs758042475	RCV000416980
Lennox-Gastaut syndrome	not provided	rs2497476159	RCV003233256
Malignant tumor of esophagus	-	rs80081965	RCV006064043
Paroxysmal dystonia	Likely benign	rs1948583655	RCV001257567
Sarcoma	Benign	rs1806211	RCV005904001
Uterine carcinosarcoma	Benign	rs17822337	RCV005915822
Uterine corpus endometrial carcinoma	Likely benign	rs140139395	RCV005903907
West syndrome	not provided	rs2497476159	RCV003233256

Show/Hide Text Mining Associations (97)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Akathisia Drug Induced	Associate	23226551
Alcohol Related Disorders	Associate	35893069
Alcoholism	Associate	19736238, 27498914
Alzheimer Disease	Inhibit	15287897
Alzheimer Disease	Associate	20197096, 20882066, 22800732, 33522999, 35246269, 36006974, 37930868, 39210294
Androgen Insensitivity Syndrome	Associate	24863970
Anti N Methyl D Aspartate Receptor Encephalitis	Associate	23648631, 32771066
Anxiety	Associate	29921740
Attention Deficit and Disruptive Behavior Disorders	Inhibit	29864525
Attention Deficit Disorder with Hyperactivity	Associate	17010153, 23718928, 34440367, 34923109, 37578679, 37667328
Auditory Perceptual Disorders	Associate	17010153, 34440367
Autism Spectrum Disorder	Associate	21572417, 22495309, 22833210, 23160955, 27616045, 32918531, 34615535, 34726335, 37031308, 37414777
Autism Spectrum Disorder	Stimulate	32193494
Autistic Disorder	Associate	25656819, 32918531
Basal Ganglia Diseases	Associate	35393335
Bipolar Disorder	Associate	16380905, 18007143, 24490167
Brain Diseases	Associate	25014031, 34212862
Brain Injury Chronic	Stimulate	36224339
Breast Neoplasms	Associate	22037257
Brunner Syndrome	Associate	34923109
Carcinoma Non Small Cell Lung	Associate	21639937
Carcinoma Renal Cell	Associate	23462807
Carcinoma Squamous Cell	Associate	21639937
Central Nervous System Diseases	Associate	35186144
Cholangiocarcinoma	Associate	22446083
Cognition Disorders	Associate	21281445, 35843716
Colorectal Neoplasms	Associate	35512400
Delirium	Associate	39210294
Depressive Disorder	Associate	29921740
Developmental Disabilities	Associate	27086544, 30168177, 34726335, 35393335, 35893069, 36450799, 36758276
Diabetes Mellitus Type 1	Associate	33029194, 33827531
Disease	Associate	22833210, 34726335, 35893069
Disruptive Impulse Control and Conduct Disorders	Associate	17010153, 23718928, 25896831
Dyslexia	Associate	28839234, 37667328, 40424442
Epilepsies Partial	Associate	27029629
Epilepsy	Associate	15030493, 27839871, 28273943, 28837158, 34247411, 34726335, 35393335, 35893069, 37385334
Epilepsy Temporal Lobe	Associate	20197096, 29864525
Esophageal Neoplasms	Associate	35879265
Fabry Disease	Associate	40233852
Focal Cortical Dysplasia	Associate	10961623
Food Addiction	Associate	22433450
Frailty	Associate	30475886
Glaucoma Open Angle	Associate	25893192
Heredodegenerative Disorders Nervous System	Associate	27839871, 29937144
Huntington Disease	Associate	10217265, 26148071
Hyperkinesis	Associate	23718928, 34440367
Hyperkinesis	Inhibit	35246269
Hyperplasia	Associate	30543306
Hypokinesia	Associate	23226551
Hypothyroidism	Inhibit	35186144
Hypoxia Ischemia Brain	Associate	38015765
Intellectual Disability	Associate	22833210, 27839871, 28228639, 29937144, 34247411, 36450799, 36758276, 37385334
Intestinal Diseases	Associate	32705857
Iron Overload	Associate	34057756
Irritable Bowel Syndrome	Associate	32705857
Lafora Disease	Associate	34212862
Language Disorders	Associate	29937144
Lennox Gastaut Syndrome	Associate	35893069
Lymphoma Large B Cell Diffuse	Associate	18288132
Macular dystrophy corneal type 1	Associate	35393335
Malformations of Cortical Development	Associate	10961623, 24613745, 28377535, 35393335
Megalencephaly	Associate	23160955, 35893069
Memory Disorders	Associate	21281445
Mental Disorders	Associate	22521361, 23718928, 24795156, 28228639, 28558131
Mental Retardation Autosomal Recessive 1	Associate	35893069
Microcephaly	Associate	23160955
Mood Disorders	Associate	32705857
Multiple Sclerosis	Associate	35008743
Muscle Hypotonia	Associate	28228639, 36758276
Neoplasms	Associate	18288132, 21639937, 26447864
Neoplasms	Inhibit	35993362
Nerve Degeneration	Associate	32771066, 38015765
Nerve Degeneration	Stimulate	39684851
Neuralgia	Associate	36224339
Neurodegenerative Diseases	Associate	25893192, 28837158, 35110392
Neurologic Manifestations	Associate	28228639
Neurotoxicity Syndromes	Stimulate	15749123
Night blindness congenital stationary	Stimulate	35246269
Obsessive Compulsive Disorder	Associate	19324536, 22433450, 36641432
Osteoarthritis	Associate	30031924
Pain	Associate	36224339
Paraneoplastic Syndromes	Associate	32771066
Parkinson Disease	Associate	25896831, 26627941, 36006974
Phosphoenolpyruvate carboxykinase deficiency	Associate	24863970
Pulmonary Arterial Hypertension	Associate	30543306
Sarcoma Kaposi	Associate	35393335
Schizophrenia	Associate	21281445, 22833210, 27616045, 36641432, 8613785
Seizures	Associate	15030493, 23782156, 27839871
Sleep Bruxism	Associate	39684851
Sleep Wake Disorders	Associate	23718928
Smith Magenis Syndrome	Associate	24863970
Spasms Infantile	Associate	35893069
Status Epilepticus	Associate	24613745
Stomach Neoplasms	Associate	18158559
Teratoma	Associate	20930449, 32771066
Thyroid Diseases	Associate	35186144
Vision Disorders	Associate	26350515

GRIN2B (glutamate ionotropic receptor NMDA type subunit 2B)