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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2903
Gene name	Glutamate ionotropic receptor NMDA type subunit 2A
Gene symbol	GRIN2A
Synonyms (NCBI Gene)	EPNDFESDGluN2ALKSNMDAR2ANR2A
Chromosome	16
Chromosome location	16p13.2
Summary	This gene encodes a member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, a

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SNP ID	Visualize variation	Clinical significance	Consequence
rs75761674	A>C,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Stop gained, missense variant, coding sequence variant
rs77029288	T>C	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, 3 prime UTR variant
rs77705198	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs113847665	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141912603	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs142566406	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs142670870	A>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs143594020	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs145063086	G>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, intron variant, missense variant
rs145172949	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs145956175	C>T	Conflicting-interpretations-of-pathogenicity, benign, benign-likely-benign	Coding sequence variant, missense variant
rs146867324	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs368110989	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs372058698	A>C,G,T	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372083517	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs372353067	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs376029542	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs387906637	G>A	Pathogenic	Coding sequence variant, stop gained
rs397514557	G>C	Pathogenic	Missense variant, coding sequence variant
rs397518447	G>T	Pathogenic	Missense variant, coding sequence variant
rs397518450	G>C	Pathogenic	Missense variant, coding sequence variant
rs397518465	C>A,T	Pathogenic	Splice donor variant
rs397518466	A>G	Pathogenic	Missense variant, initiator codon variant, coding sequence variant, genic upstream transcript variant
rs397518467	G>C	Pathogenic	Coding sequence variant, stop gained
rs397518469	T>C	Pathogenic	Splice acceptor variant
rs397518470	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs397518471	A>C	Pathogenic	Missense variant, coding sequence variant
rs397518472	G>A	Pathogenic	Coding sequence variant, stop gained
rs587780353	A>T	Pathogenic, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs747838255	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs751455326	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs780654733	A>G	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs796052547	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs796052548	A>C	Pathogenic	Coding sequence variant, missense variant
rs796052551	T>C	Pathogenic	Coding sequence variant, missense variant
rs796052560	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs869312681	T>C	Likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant
rs869312916	T>C	Pathogenic	Missense variant, coding sequence variant
rs879253875	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs886039239	T>C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs886039604	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs886041308	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs886042168	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs886043129	C>T	Pathogenic	Stop gained, intron variant, coding sequence variant
rs886043681	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs1000800098	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518070	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520116	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521810	C>T	Likely-pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant
rs1057523843	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057524089	G>A	Pathogenic	Stop gained, coding sequence variant
rs1060503228	G>C	Pathogenic	Stop gained, coding sequence variant
rs1064794679	C>G	Likely-pathogenic	Intron variant
rs1064795647	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796608	A>C,G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064796658	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1064796950	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1085307961	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1238779318	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs1250662891	G>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1445802934	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1555482933	T>A	Pathogenic	Missense variant, coding sequence variant
rs1555483699	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs1555491538	->G	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1555491648	G>A	Pathogenic	Missense variant, coding sequence variant
rs1555492758	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555492769	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555493585	C>G,T	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1555494676	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs1555494699	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555494781	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555496111	A>G	Pathogenic	Missense variant, coding sequence variant
rs1596471698	C>-	Likely-pathogenic	Splice donor variant, coding sequence variant
rs1596471934	->A	Pathogenic	Coding sequence variant, frameshift variant
rs1596476657	G>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1596483044	G>-	Pathogenic	Coding sequence variant, stop gained
rs1596494610	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1596494684	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1596586969	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1596587476	->GGACCGCGCC	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004578	hsa-miR-125b-5p	Luciferase reporter assayqRT-PCR	20159450
MIRT715858	hsa-miR-148a-5p	HITS-CLIP	19536157
MIRT715856	hsa-miR-8485	HITS-CLIP	19536157
MIRT715857	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT715855	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT715854	hsa-miR-603	HITS-CLIP	19536157
MIRT715853	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT715851	hsa-miR-3941	HITS-CLIP	19536157
MIRT715852	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT715850	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715849	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708414	hsa-miR-1276	HITS-CLIP	19536157
MIRT708413	hsa-miR-6800-3p	HITS-CLIP	19536157
MIRT708412	hsa-miR-3914	HITS-CLIP	19536157
MIRT708411	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT708410	hsa-miR-873-5p	HITS-CLIP	19536157
MIRT708409	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT708408	hsa-miR-3183	HITS-CLIP	19536157
MIRT708407	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT708406	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT708405	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT708404	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT708403	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT708402	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT708401	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT657594	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT657593	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT657592	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT496160	hsa-miR-1295b-5p	PAR-CLIP	22291592
MIRT496159	hsa-miR-1912	PAR-CLIP	22291592
MIRT496158	hsa-miR-3130-5p	PAR-CLIP	22291592
MIRT496157	hsa-miR-4482-5p	PAR-CLIP	22291592
MIRT496156	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT496155	hsa-miR-6806-5p	PAR-CLIP	22291592
MIRT496154	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT476075	hsa-miR-583	PAR-CLIP	23592263
MIRT476074	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476073	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT476072	hsa-miR-1185-5p	PAR-CLIP	23592263
MIRT476070	hsa-miR-3679-5p	PAR-CLIP	23592263
MIRT476071	hsa-miR-3665	PAR-CLIP	23592263
MIRT476069	hsa-miR-657	PAR-CLIP	23592263
MIRT476068	hsa-miR-4710	PAR-CLIP	23592263
MIRT476067	hsa-miR-3915	PAR-CLIP	23592263
MIRT715858	hsa-miR-148a-5p	HITS-CLIP	19536157
MIRT715856	hsa-miR-8485	HITS-CLIP	19536157
MIRT715857	hsa-miR-329-3p	HITS-CLIP	19536157
MIRT715855	hsa-miR-362-3p	HITS-CLIP	19536157
MIRT715854	hsa-miR-603	HITS-CLIP	19536157
MIRT715853	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT715851	hsa-miR-3941	HITS-CLIP	19536157
MIRT715852	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT715850	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT715849	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT708414	hsa-miR-1276	HITS-CLIP	19536157
MIRT708413	hsa-miR-6800-3p	HITS-CLIP	19536157
MIRT708412	hsa-miR-3914	HITS-CLIP	19536157
MIRT708411	hsa-miR-1228-3p	HITS-CLIP	19536157
MIRT708410	hsa-miR-873-5p	HITS-CLIP	19536157
MIRT708409	hsa-miR-6840-3p	HITS-CLIP	19536157
MIRT708408	hsa-miR-3183	HITS-CLIP	19536157
MIRT708407	hsa-miR-4723-3p	HITS-CLIP	19536157
MIRT708406	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT708405	hsa-miR-371b-5p	HITS-CLIP	19536157
MIRT708404	hsa-miR-373-5p	HITS-CLIP	19536157
MIRT708403	hsa-miR-616-5p	HITS-CLIP	19536157
MIRT708402	hsa-miR-130b-5p	HITS-CLIP	19536157
MIRT708401	hsa-miR-4753-3p	HITS-CLIP	19536157
MIRT657594	hsa-miR-216b-5p	HITS-CLIP	23824327
MIRT657593	hsa-miR-216a-5p	HITS-CLIP	23824327
MIRT657592	hsa-miR-5589-3p	HITS-CLIP	23824327
MIRT496160	hsa-miR-1295b-5p	PAR-CLIP	22291592
MIRT496159	hsa-miR-1912	PAR-CLIP	22291592
MIRT496158	hsa-miR-3130-5p	PAR-CLIP	22291592
MIRT496157	hsa-miR-4482-5p	PAR-CLIP	22291592
MIRT496156	hsa-miR-5189-3p	PAR-CLIP	22291592
MIRT496155	hsa-miR-6806-5p	PAR-CLIP	22291592
MIRT496154	hsa-miR-192-3p	PAR-CLIP	22291592
MIRT476075	hsa-miR-583	PAR-CLIP	23592263
MIRT476074	hsa-miR-125a-3p	PAR-CLIP	23592263
MIRT476073	hsa-miR-3928-3p	PAR-CLIP	23592263
MIRT476072	hsa-miR-1185-5p	PAR-CLIP	23592263
MIRT476070	hsa-miR-3679-5p	PAR-CLIP	23592263
MIRT476071	hsa-miR-3665	PAR-CLIP	23592263
MIRT476069	hsa-miR-657	PAR-CLIP	23592263
MIRT476068	hsa-miR-4710	PAR-CLIP	23592263
MIRT476067	hsa-miR-3915	PAR-CLIP	23592263
MIRT1034351	hsa-miR-106a	CLIP-seq
MIRT1034352	hsa-miR-106b	CLIP-seq
MIRT1034353	hsa-miR-1226	CLIP-seq
MIRT1034354	hsa-miR-1257	CLIP-seq
MIRT1034355	hsa-miR-1297	CLIP-seq
MIRT1034356	hsa-miR-1305	CLIP-seq
MIRT1034357	hsa-miR-142-5p	CLIP-seq
MIRT1034358	hsa-miR-146a	CLIP-seq
MIRT1034359	hsa-miR-146b-5p	CLIP-seq
MIRT1034360	hsa-miR-155	CLIP-seq
MIRT1034361	hsa-miR-17	CLIP-seq
MIRT1034362	hsa-miR-181a	CLIP-seq
MIRT1034363	hsa-miR-181b	CLIP-seq
MIRT1034364	hsa-miR-181c	CLIP-seq
MIRT1034365	hsa-miR-181d	CLIP-seq
MIRT1034366	hsa-miR-197	CLIP-seq
MIRT1034367	hsa-miR-20a	CLIP-seq
MIRT1034368	hsa-miR-20b	CLIP-seq
MIRT1034369	hsa-miR-26a	CLIP-seq
MIRT1034370	hsa-miR-26b	CLIP-seq
MIRT1034371	hsa-miR-27a	CLIP-seq
MIRT1034372	hsa-miR-27b	CLIP-seq
MIRT1034373	hsa-miR-302a	CLIP-seq
MIRT1034374	hsa-miR-302b	CLIP-seq
MIRT1034375	hsa-miR-302c	CLIP-seq
MIRT1034376	hsa-miR-302d	CLIP-seq
MIRT1034377	hsa-miR-302e	CLIP-seq
MIRT1034378	hsa-miR-3138	CLIP-seq
MIRT1034379	hsa-miR-3158-5p	CLIP-seq
MIRT1034380	hsa-miR-3160-5p	CLIP-seq
MIRT1034381	hsa-miR-3170	CLIP-seq
MIRT1034382	hsa-miR-3174	CLIP-seq
MIRT1034383	hsa-miR-3190	CLIP-seq
MIRT1034384	hsa-miR-342-5p	CLIP-seq
MIRT1034385	hsa-miR-3609	CLIP-seq
MIRT1034386	hsa-miR-3659	CLIP-seq
MIRT1034387	hsa-miR-372	CLIP-seq
MIRT1034388	hsa-miR-373	CLIP-seq
MIRT1034389	hsa-miR-4262	CLIP-seq
MIRT1034390	hsa-miR-4276	CLIP-seq
MIRT1034391	hsa-miR-4465	CLIP-seq
MIRT1034392	hsa-miR-4511	CLIP-seq
MIRT1034393	hsa-miR-4651	CLIP-seq
MIRT1034394	hsa-miR-4658	CLIP-seq
MIRT1034395	hsa-miR-4664-5p	CLIP-seq
MIRT1034396	hsa-miR-4698	CLIP-seq
MIRT1034397	hsa-miR-4733-3p	CLIP-seq
MIRT1034398	hsa-miR-4796-3p	CLIP-seq
MIRT1034399	hsa-miR-498	CLIP-seq
MIRT1034400	hsa-miR-5096	CLIP-seq
MIRT1034401	hsa-miR-513a-5p	CLIP-seq
MIRT1034402	hsa-miR-519a	CLIP-seq
MIRT1034403	hsa-miR-519b-3p	CLIP-seq
MIRT1034404	hsa-miR-519c-3p	CLIP-seq
MIRT1034405	hsa-miR-519d	CLIP-seq
MIRT1034406	hsa-miR-520a-3p	CLIP-seq
MIRT1034407	hsa-miR-520b	CLIP-seq
MIRT1034408	hsa-miR-520c-3p	CLIP-seq
MIRT1034409	hsa-miR-520d-3p	CLIP-seq
MIRT1034410	hsa-miR-520e	CLIP-seq
MIRT1034411	hsa-miR-548ah	CLIP-seq
MIRT1034412	hsa-miR-548b-3p	CLIP-seq
MIRT1034413	hsa-miR-574-5p	CLIP-seq
MIRT1034414	hsa-miR-590-3p	CLIP-seq
MIRT1034415	hsa-miR-607	CLIP-seq
MIRT1034416	hsa-miR-608	CLIP-seq
MIRT1034417	hsa-miR-630	CLIP-seq
MIRT1034418	hsa-miR-93	CLIP-seq
MIRT1034419	hsa-miR-105	CLIP-seq
MIRT1034420	hsa-miR-1185	CLIP-seq
MIRT1034421	hsa-miR-1279	CLIP-seq
MIRT1034356	hsa-miR-1305	CLIP-seq
MIRT1034422	hsa-miR-130a	CLIP-seq
MIRT1034423	hsa-miR-130b	CLIP-seq
MIRT1034424	hsa-miR-136	CLIP-seq
MIRT1034425	hsa-miR-137	CLIP-seq
MIRT1034426	hsa-miR-1587	CLIP-seq
MIRT1034366	hsa-miR-197	CLIP-seq
MIRT1034427	hsa-miR-301a	CLIP-seq
MIRT1034428	hsa-miR-301b	CLIP-seq
MIRT1034373	hsa-miR-302a	CLIP-seq
MIRT1034374	hsa-miR-302b	CLIP-seq
MIRT1034375	hsa-miR-302c	CLIP-seq
MIRT1034376	hsa-miR-302d	CLIP-seq
MIRT1034377	hsa-miR-302e	CLIP-seq
MIRT1034429	hsa-miR-3121-3p	CLIP-seq
MIRT1034430	hsa-miR-3127-3p	CLIP-seq
MIRT1034431	hsa-miR-3152-3p	CLIP-seq
MIRT1034432	hsa-miR-3155	CLIP-seq
MIRT1034433	hsa-miR-3155b	CLIP-seq
MIRT1034434	hsa-miR-3161	CLIP-seq
MIRT1034382	hsa-miR-3174	CLIP-seq
MIRT1034383	hsa-miR-3190	CLIP-seq
MIRT1034435	hsa-miR-324-5p	CLIP-seq
MIRT1034384	hsa-miR-342-5p	CLIP-seq
MIRT1034436	hsa-miR-3613-3p	CLIP-seq
MIRT1034437	hsa-miR-3647-3p	CLIP-seq
MIRT1034386	hsa-miR-3659	CLIP-seq
MIRT1034438	hsa-miR-3666	CLIP-seq
MIRT1034439	hsa-miR-3671	CLIP-seq
MIRT1034440	hsa-miR-3679-3p	CLIP-seq
MIRT1034441	hsa-miR-3686	CLIP-seq
MIRT1034387	hsa-miR-372	CLIP-seq
MIRT1034388	hsa-miR-373	CLIP-seq
MIRT1034442	hsa-miR-3917	CLIP-seq
MIRT1034443	hsa-miR-4257	CLIP-seq
MIRT1034444	hsa-miR-4295	CLIP-seq
MIRT1034445	hsa-miR-4417	CLIP-seq
MIRT1034446	hsa-miR-4438	CLIP-seq
MIRT1034447	hsa-miR-4492	CLIP-seq
MIRT1034448	hsa-miR-4498	CLIP-seq
MIRT1034449	hsa-miR-4502	CLIP-seq
MIRT1034450	hsa-miR-454	CLIP-seq
MIRT1034393	hsa-miR-4651	CLIP-seq
MIRT1034451	hsa-miR-4656	CLIP-seq
MIRT1034394	hsa-miR-4658	CLIP-seq
MIRT1034395	hsa-miR-4664-5p	CLIP-seq
MIRT1034452	hsa-miR-4666-5p	CLIP-seq
MIRT1034453	hsa-miR-4675	CLIP-seq
MIRT1034454	hsa-miR-4714-3p	CLIP-seq
MIRT1034455	hsa-miR-4722-3p	CLIP-seq
MIRT1034456	hsa-miR-4741	CLIP-seq
MIRT1034457	hsa-miR-4742-3p	CLIP-seq
MIRT1034458	hsa-miR-4775	CLIP-seq
MIRT1034459	hsa-miR-4778-5p	CLIP-seq
MIRT1034460	hsa-miR-4780	CLIP-seq
MIRT1034461	hsa-miR-4802-3p	CLIP-seq
MIRT1034462	hsa-miR-484	CLIP-seq
MIRT1034463	hsa-miR-488	CLIP-seq
MIRT1034399	hsa-miR-498	CLIP-seq
MIRT1034402	hsa-miR-519a	CLIP-seq
MIRT1034403	hsa-miR-519b-3p	CLIP-seq
MIRT1034404	hsa-miR-519c-3p	CLIP-seq
MIRT1034406	hsa-miR-520a-3p	CLIP-seq
MIRT1034407	hsa-miR-520b	CLIP-seq
MIRT1034408	hsa-miR-520c-3p	CLIP-seq
MIRT1034409	hsa-miR-520d-3p	CLIP-seq
MIRT1034410	hsa-miR-520e	CLIP-seq
MIRT1034464	hsa-miR-539	CLIP-seq
MIRT1034465	hsa-miR-541	CLIP-seq
MIRT1034413	hsa-miR-574-5p	CLIP-seq
MIRT1034414	hsa-miR-590-3p	CLIP-seq
MIRT1034415	hsa-miR-607	CLIP-seq
MIRT1034416	hsa-miR-608	CLIP-seq
MIRT1034466	hsa-miR-616	CLIP-seq
MIRT1034467	hsa-miR-654-5p	CLIP-seq
MIRT1034468	hsa-miR-656	CLIP-seq
MIRT1034469	hsa-miR-762	CLIP-seq
MIRT1549389	hsa-miR-217	CLIP-seq
MIRT1921631	hsa-miR-1273e	CLIP-seq
MIRT1921632	hsa-miR-129-5p	CLIP-seq
MIRT1921633	hsa-miR-450b-3p	CLIP-seq
MIRT1921634	hsa-miR-4713-3p	CLIP-seq
MIRT1921635	hsa-miR-638	CLIP-seq
MIRT1921636	hsa-miR-769-3p	CLIP-seq
MIRT1921631	hsa-miR-1273e	CLIP-seq
MIRT1921632	hsa-miR-129-5p	CLIP-seq
MIRT1921633	hsa-miR-450b-3p	CLIP-seq
MIRT1921634	hsa-miR-4713-3p	CLIP-seq
MIRT1921635	hsa-miR-638	CLIP-seq
MIRT1921636	hsa-miR-769-3p	CLIP-seq
MIRT1921631	hsa-miR-1273e	CLIP-seq
MIRT1921632	hsa-miR-129-5p	CLIP-seq
MIRT1921633	hsa-miR-450b-3p	CLIP-seq
MIRT1921634	hsa-miR-4713-3p	CLIP-seq
MIRT1921635	hsa-miR-638	CLIP-seq
MIRT1921636	hsa-miR-769-3p	CLIP-seq
MIRT2239243	hsa-miR-1273d	CLIP-seq
MIRT1034421	hsa-miR-1279	CLIP-seq
MIRT2239244	hsa-miR-1303	CLIP-seq
MIRT1034422	hsa-miR-130a	CLIP-seq
MIRT1034423	hsa-miR-130b	CLIP-seq
MIRT1034425	hsa-miR-137	CLIP-seq
MIRT1034360	hsa-miR-155	CLIP-seq
MIRT2239245	hsa-miR-190	CLIP-seq
MIRT2239246	hsa-miR-190b	CLIP-seq
MIRT1034427	hsa-miR-301a	CLIP-seq
MIRT1034428	hsa-miR-301b	CLIP-seq
MIRT2239247	hsa-miR-3065-5p	CLIP-seq
MIRT2239248	hsa-miR-3140-5p	CLIP-seq
MIRT1034380	hsa-miR-3160-5p	CLIP-seq
MIRT1034381	hsa-miR-3170	CLIP-seq
MIRT1034382	hsa-miR-3174	CLIP-seq
MIRT2239249	hsa-miR-3180-5p	CLIP-seq
MIRT1034383	hsa-miR-3190	CLIP-seq
MIRT2239250	hsa-miR-3201	CLIP-seq
MIRT1034384	hsa-miR-342-5p	CLIP-seq
MIRT2239251	hsa-miR-34b	CLIP-seq
MIRT1034386	hsa-miR-3659	CLIP-seq
MIRT1034438	hsa-miR-3666	CLIP-seq
MIRT1034441	hsa-miR-3686	CLIP-seq
MIRT2239252	hsa-miR-409-3p	CLIP-seq
MIRT2239253	hsa-miR-4254	CLIP-seq
MIRT2239254	hsa-miR-4282	CLIP-seq
MIRT2239255	hsa-miR-4292	CLIP-seq
MIRT1034444	hsa-miR-4295	CLIP-seq
MIRT2239256	hsa-miR-4308	CLIP-seq
MIRT2239257	hsa-miR-4423-3p	CLIP-seq
MIRT2239258	hsa-miR-4487	CLIP-seq
MIRT2239259	hsa-miR-4504	CLIP-seq
MIRT1034392	hsa-miR-4511	CLIP-seq
MIRT1034450	hsa-miR-454	CLIP-seq
MIRT1034393	hsa-miR-4651	CLIP-seq
MIRT1034394	hsa-miR-4658	CLIP-seq
MIRT1034395	hsa-miR-4664-5p	CLIP-seq
MIRT2239260	hsa-miR-4791	CLIP-seq
MIRT2239261	hsa-miR-4797-5p	CLIP-seq
MIRT1034463	hsa-miR-488	CLIP-seq
MIRT2239262	hsa-miR-491-3p	CLIP-seq
MIRT2239263	hsa-miR-499-3p	CLIP-seq
MIRT2239264	hsa-miR-499a-3p	CLIP-seq
MIRT2239265	hsa-miR-513a-3p	CLIP-seq
MIRT2239266	hsa-miR-520a-5p	CLIP-seq
MIRT2239267	hsa-miR-525-5p	CLIP-seq
MIRT1034413	hsa-miR-574-5p	CLIP-seq
MIRT2239268	hsa-miR-580	CLIP-seq
MIRT1034416	hsa-miR-608	CLIP-seq
MIRT1034466	hsa-miR-616	CLIP-seq
MIRT2239269	hsa-miR-660	CLIP-seq
MIRT2239270	hsa-miR-670	CLIP-seq
MIRT2239271	hsa-miR-759	CLIP-seq
MIRT2239272	hsa-miR-877	CLIP-seq
MIRT2239245	hsa-miR-190	CLIP-seq
MIRT2239246	hsa-miR-190b	CLIP-seq
MIRT2239250	hsa-miR-3201	CLIP-seq
MIRT2239258	hsa-miR-4487	CLIP-seq
MIRT1034392	hsa-miR-4511	CLIP-seq
MIRT2239260	hsa-miR-4791	CLIP-seq
MIRT1921631	hsa-miR-1273e	CLIP-seq
MIRT1921632	hsa-miR-129-5p	CLIP-seq
MIRT1921633	hsa-miR-450b-3p	CLIP-seq
MIRT1921634	hsa-miR-4713-3p	CLIP-seq
MIRT1921635	hsa-miR-638	CLIP-seq
MIRT1921636	hsa-miR-769-3p	CLIP-seq
MIRT2543107	hsa-miR-2277-3p	CLIP-seq
MIRT2543108	hsa-miR-3691-5p	CLIP-seq
MIRT2543109	hsa-miR-425	CLIP-seq
MIRT2543110	hsa-miR-4752	CLIP-seq
MIRT1034430	hsa-miR-3127-3p	CLIP-seq
MIRT2682086	hsa-miR-3664-3p	CLIP-seq
MIRT1034440	hsa-miR-3679-3p	CLIP-seq
MIRT2682087	hsa-miR-4433	CLIP-seq
MIRT2682088	hsa-miR-4459	CLIP-seq
MIRT2682089	hsa-miR-4768-3p	CLIP-seq
MIRT1034460	hsa-miR-4780	CLIP-seq
MIRT1034463	hsa-miR-488	CLIP-seq

118

Show/Hide all (118)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	TAS	26719327
GO:0001964	Process	Startle response	IEA
GO:0001975	Process	Response to amphetamine	IEA
GO:0004972	Function	NMDA glutamate receptor activity	IBA
GO:0004972	Function	NMDA glutamate receptor activity	IDA	20890276, 23933819, 23933820, 24504326, 26875626, 26919761, 27288002, 28095420, 28126851, 28242877, 29644724, 36117210, 38307912, 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:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11937501, 17360663, 17997397, 21653829, 34321660
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23933820, 26875626, 26919761, 27839871, 28095420, 28242877, 38538865
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISO
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS	8768735
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	IEA
GO:0007215	Process	Glutamate receptor signaling pathway	TAS	8768735
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007268	Process	Chemical synaptic transmission	TAS	7816096
GO:0007420	Process	Brain development	NAS	17526495
GO:0007611	Process	Learning or memory	IEA
GO:0007611	Process	Learning or memory	IEA
GO:0007611	Process	Learning or memory	TAS	7816096
GO:0007612	Process	Learning	IEA
GO:0007613	Process	Memory	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008270	Function	Zinc ion binding	ISS
GO:0008542	Process	Visual learning	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009611	Process	Response to wounding	IEA
GO:0009986	Component	Cell surface	IEA
GO:0009986	Component	Cell surface	ISS
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0015276	Function	Ligand-gated monoatomic ion channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	IBA
GO:0017146	Component	NMDA selective glutamate receptor complex	IDA	10480938, 26875626, 28095420
GO:0017146	Component	NMDA selective glutamate receptor complex	IEA
GO:0017146	Component	NMDA selective glutamate receptor complex	ISO
GO:0017146	Component	NMDA selective glutamate receptor complex	ISS
GO:0017146	Component	NMDA selective glutamate receptor complex	TAS	17526495
GO:0019233	Process	Sensory perception of pain	IEA
GO:0019722	Process	Calcium-mediated signaling	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IDA	26875626
GO:0022849	Function	Glutamate-gated calcium ion channel activity	IMP	27839871
GO:0030163	Process	Protein catabolic process	IEA
GO:0030431	Process	Sleep	IEA
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033058	Process	Directional locomotion	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	ISO
GO:0035235	Process	Ionotropic glutamate receptor signaling pathway	ISS
GO:0035249	Process	Synaptic transmission, glutamatergic	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IDA	36117210, 38538865
GO:0038023	Function	Signaling receptor activity	IEA
GO:0040011	Process	Locomotion	IEA
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042428	Process	Serotonin metabolic process	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043197	Component	Dendritic spine	IEA
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:0045471	Process	Response to ethanol	IDA	18445116
GO:0045471	Process	Response to ethanol	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
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:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISO
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	ISS
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IBA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060291	Process	Long-term synaptic potentiation	IBA
GO:0060291	Process	Long-term synaptic potentiation	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	24504326, 28242877, 36117210, 38538865
GO:0097060	Component	Synaptic membrane	IEA
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	26875626, 38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	IDA	26875626, 38538865
GO:0098655	Process	Monoatomic cation transmembrane transport	ISO
GO:0098655	Process	Monoatomic cation transmembrane transport	ISS
GO:0098794	Component	Postsynapse	IEA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0098976	Process	Excitatory chemical synaptic transmission	NAS	17526495
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1903539	Process	Protein localization to postsynaptic membrane	IEA
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	ISO
GO:1904062	Process	Regulation of monoatomic cation transmembrane transport	ISS
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1904646	Process	Cellular response to amyloid-beta	IGI	21883149
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISO
GO:2000463	Process	Positive regulation of excitatory postsynaptic potential	ISS

MIM	HGNC	e!Ensembl
138253	4585	ENSG00000183454

Q12879

Protein name

Glutamate receptor ionotropic, NMDA 2A (GluN2A) (Glutamate [NMDA] receptor subunit epsilon-1) (N-methyl D-aspartate receptor subtype 2A) (NMDAR2A) (NR2A) (hNR2A)

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:20890276, PubMed:23933818, PubMed:23933819,

PDB

3NFL , 5H8F , 5H8H , 5H8N , 5H8Q , 5I2K , 5I2N , 5KCJ , 5KDT , 5TP9 , 5TPA , 6IRA , 6IRF , 6IRG , 6IRH , 7EOQ , 7EOR , 7EOS , 7EOT , 7EOU , 7EU7 , 8E99 , 8JIZ , 8JJ0 , 8JJ1 , 8JJ2 , 8VUH , 8VUJ , 8VUL , 8VUN , 8VUQ , 8VUR , 8VUT

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	69 → 327	Receptor family ligand binding region	Family
PF10613	Lig_chan-Glu_bd	404 → 541	Ligated ion channel L-glutamate- and glycine-binding site	Domain
PF00060	Lig_chan	554 → 828	Ligand-gated ion channel	Family
PF10565	NMDAR2_C	839 → 1464	N-methyl D-aspartate receptor 2B3 C-terminus	Family

Sequence

MGRVGYWTLLVLPALLVWRGPAPSAAAEKGPPALNIAVMLGHSHDVTERELRTLWGPEQA
AGLPLDVNVVALLMNRTDPKSLITHVCDLMSGARIHGLVFGDDTDQEAVAQMLDFISSHT
FVPILGIHGGASMIMADKDPTSTFFQFGASIQQQATVMLKIMQDYDWHVFSLVTTIFPGY
REFISFVKTTVDNSFVGWDMQNVITLDTSFEDAKTQVQLKKIHSSVILLYCSKDEAVLIL
SEARSLGLTGYDFFWIVPSLVSGNTELIPKEFPSGLISVSYDDWDYSLEARVRDGIGILT
TAASSMLEKFSYIPEAKASCYGQMERPEVPMHTLHPFMVNVTWDGKDLSFTEEGYQVHPR
LVVIVLNKDREWEKVGKWENHTLSLRHAVWPRYKSFSDCEPDDNHLSIVTLEEAPFVIVE
DIDPLTETCVRNTVPCRKFVKINNSTNEGMNVKKCCKGFCIDILKKLSRTVKFTYDLYLV
TNGKHGKKVNNVWNGMIGEVVYQRAVMAVGSLTINEERSEVVDFSVPFVETGISVMVSRS
NGTVSPSAFLEPFSASVWVMMFVMLLIVSAIAVFVFEYFSPVGYNRNLAKGKAPHGPSFT
IGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEFVD
QVTGLSDKKFQRPHDYSPPFRFGTVPNGSTERNIRNNYPYMHQYMTKFNQKGVEDALVSL
KTGKLDAFIYDAAVLNYKAGRDEGCKLVTIGSGYIFATTGYGIALQKGSPWKRQIDLALL
QFVGDGEMEELETLWLTGICHNEKNEVMSSQLDIDNMAGVFYMLAAAMALSLITFIWEHL
FYWKLRFCFTGVCSDRPGLLFSISRGIYSCIHGVHIEEKKKSPDFNLTGSQSNMLKLLRS
AKNISSMSNMNSSRMDSPKRAADFIQRGSLIMDMVSDKGNLMYSDNRSFQGKESIFGDNM
NELQTFVANRQKDNLNNYVFQGQHPLTLNESNPNTVEVAVSTESKANSRPRQLWKKSVDS
IRQDSLSQNPVSQRDEATAENRTHSLKSPRYLPEEMAHSDISETSNRATCHREPDNSKNH
KTKDNFKRSVASKYPKDCSEVERTYLKTKSSSPRDKIYTIDGEKEPGFHLDPPQFVENVT
LPENVDFPDPYQDPSENFRKGDSTLPMNRNPLHNEEGLSNNDQYKLYSKHFTLKDKGSPH
SETSERYRQNSTHCRSCLSNMPTYSGHFTMRSPFKCDACLRMGNLYDIDEDQMLQETGNP
ATGEQVYQQDWAQNNALQLQKNKLRISRQHSYDNIVDKPRELDLSRPSRSISLKDRERLL
EGNFYGSLFSVPSSKLSGKKSSLFPQGLEDSKRSKSLLPDHTSDNPFLHSHRDDQRLVIG
RCPSDPYKHSLPSQAVNDSYLRSSLRSTASYCSRDSRGHNDVYISEHVMPYAANKNNMYS
TPRVLNSCSNRRVYKKMPSIESDV

Sequence length

1464

Interactions

View interactions

1917

Show/Hide Causal Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral morphology	Likely pathogenic; Pathogenic	rs397518465	RCV002274908
CTCF-related neurodevelopmental disorder	Likely pathogenic	rs2141631138	RCV001837558
Dystonia, intellectual disability and language impairment	Likely pathogenic	rs879253875	RCV000236367
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	Likely pathogenic; Pathogenic	rs869312681	RCV004017490
Epilepsy	Likely pathogenic; Pathogenic	rs2141294532	RCV004798937
GRIN2A-related complex neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs869312916	RCV005868118
Intellectual disability	Likely pathogenic; Pathogenic	rs1596476657, rs1445802934, rs2044762657	RCV000851496 RCV001260638 RCV001260639
Landau-Kleffner syndrome	Pathogenic; Likely pathogenic	rs1555455727, rs1903130042, rs2141342055, rs751455326, rs2141325180, rs2042665950, rs2141346217, rs2141136701, rs1555492790, rs2141344569, rs1555496202, rs1555501093, rs2141630590, rs1555455815, rs2141313144 View all (181 more)	RCV001330049 RCV001345400 RCV001368793 RCV001376045 RCV001378997 RCV001379871 RCV001378390 RCV001380855 RCV001381123 RCV001381269 RCV001389555 RCV001390021 RCV001381110 RCV001387041 RCV001420575 RCV001775341 RCV001785240 RCV001785242 RCV001785243 RCV001785244 RCV001785245 RCV001785246 RCV001785247 RCV001785248 RCV001785249 RCV001785250 RCV001785251 RCV001785253 RCV001785254 RCV001785255 RCV001785256 RCV001785257 RCV001785258 RCV001785259 RCV001785260 RCV001785261 RCV001785263 RCV001785264 RCV001785265 RCV001785266 RCV001785267 RCV001785268 RCV001785269 RCV001785270 RCV001785395 RCV001785396 RCV001785397 RCV001785399 RCV001785400 RCV001785403 RCV001785404 RCV001785405 RCV001785406 RCV001785407 RCV001930216 RCV001928401 RCV001993572 RCV002032086 RCV001941717 RCV002007353 RCV002006784 RCV002000291 RCV001960520 RCV001996025 RCV002014111 RCV002041725 RCV002033470 RCV001978296 RCV001918602 RCV001984109 RCV002249064 RCV002250032 RCV002260528 RCV003156052 RCV002287580 RCV002289325 RCV002289349 RCV001781551 RCV001781550 RCV000254568 RCV001253314 RCV001781549 RCV001781548 RCV001785401 RCV003223530 RCV001781553 RCV001781552 RCV002806960 RCV002829074 RCV002842937 RCV002833717 RCV002881462 RCV002847454 RCV002871814 RCV002871149 RCV002862616 RCV002914491 RCV003021058 RCV003033422 RCV003036326 RCV000209878 RCV001330044 RCV003128355 RCV003145912 RCV005100926 RCV003225010 RCV003227556 RCV001782756 RCV003441154 RCV003582258 RCV003582243 RCV003582474 RCV003582476 RCV003582781 RCV003582945 RCV003582947 RCV003582808 RCV003582076 RCV003741727 RCV003741812 RCV003741813 RCV003741789 RCV003741808 RCV003742117 RCV003742112 RCV003885400 RCV001782904 RCV001782905 RCV000546009 RCV000022584 RCV000022585 RCV000473955 RCV001782971 RCV001782970 RCV000688647 RCV001851273 RCV001782975 RCV001782995 RCV001360564 RCV001782992 RCV001782993 RCV003581671 RCV001782994 RCV000544675 RCV000578290 RCV000032866 RCV000032867 RCV000585832 RCV001855316 RCV000639585 RCV000639593 RCV000693871 RCV000687870 RCV000800699 RCV000822999 RCV000822453 RCV000808666 RCV000794560 RCV000806105 RCV000793732 RCV001858504 RCV000984985 RCV000989525 RCV000989526 RCV001031008 RCV001004664 RCV001004726 RCV001004734 RCV001004713 RCV001004716 RCV001004710 RCV001070099 RCV001041788 RCV001035940 RCV001089991 RCV004761929 RCV001175145 RCV001175146 RCV001175147 RCV001326955 RCV001192665 RCV001209558 RCV001224565 RCV001224720 RCV001220196 RCV001223817 RCV001211099 RCV001202493 RCV001201662 RCV000074386 RCV000074387 RCV000074388 RCV000074389 RCV000074390 RCV000074391 RCV000074392 RCV000074393 RCV001235339 RCV001228341 RCV001237105 RCV001252253 RCV001253076 RCV002274166 RCV003227948 RCV001262220 RCV001374373 RCV001780221 RCV001290247
Neoplasm	Pathogenic	rs1555494699	RCV006274100
Neurodevelopmental abnormality	Likely pathogenic	rs2506111451	RCV003228229
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1555491654	RCV001778779
See cases	Likely pathogenic; Pathogenic	rs1555488119, rs1555491538	RCV003128410 RCV001420305
Seizure	Likely pathogenic; Pathogenic	rs796052549, rs2506039306, rs397518465, rs397518468	RCV005624340 RCV004585216 RCV005624318 RCV005624319
Self-limited epilepsy with centrotemporal spikes	Likely pathogenic; Pathogenic	rs1250662891, rs1439688451, rs1555488144, rs1555491648, rs1555494676, rs1555496111, rs397518465, rs1238779318, rs1567337914	RCV000656053 RCV000656044 RCV000656045 RCV000656046 RCV000656047 RCV000656048 RCV000656050 RCV000656051 RCV000678803 RCV000656049

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs9932916	RCV005890866
Complex neurodevelopmental disorder	Uncertain significance; Conflicting classifications of pathogenicity	rs774442834, rs1426934537, rs1453013171, rs796052564	RCV001795585 RCV003329176 RCV002260550 RCV001563618
Epilepsy, familial temporal lobe, 1	Uncertain significance	rs2543143297	RCV001004762
Epileptic encephalopathy	Conflicting classifications of pathogenicity; Uncertain significance	rs531782747, rs1057519551	RCV000417020 RCV000416946
Familial prostate cancer	Uncertain significance	rs1473377043	RCV005927053
Focal epilepsy	Conflicting classifications of pathogenicity	rs145063086	RCV000417003
Global developmental delay	Uncertain significance	rs1060499722	RCV000449582
Hepatocellular carcinoma	Likely benign	rs750224605, rs750219908	RCV005925658 RCV005905707
History of neurodevelopmental disorder	Likely benign	rs367543138	RCV000718999
Melanoma	Likely benign	rs587780351	RCV006254393
Microcephaly	Uncertain significance	rs748291723	RCV001252735
Ovarian serous cystadenocarcinoma	Uncertain significance; Benign	rs569342611, rs79849427	RCV005937369 RCV005894574
Pyridoxine-dependent epilepsy	Uncertain significance	rs376125239	RCV000678802
Vascular dementia	Uncertain significance	rs1465063447	RCV002051759

Show/Hide Text Mining Associations (79)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	36705386
Adrenal Hyperplasia Congenital	Associate	35177115
Alcohol Related Disorders	Associate	40149474
Alcoholism	Associate	19736238
Alzheimer Disease	Inhibit	15287897
Alzheimer Disease	Associate	34269494, 37302762, 39210294, 39650656
Anti N Methyl D Aspartate Receptor Encephalitis	Associate	32771066
Aphasia	Associate	23933818, 25596506, 28242877, 28936771
Apraxias	Associate	22738016, 25596506
Arthritis Rheumatoid	Associate	28767591
Ataxia	Associate	23226551
Atrophy	Associate	24504326
Attention Deficit Disorder with Hyperactivity	Associate	23295062, 34923109
Autism Spectrum Disorder	Associate	22833210, 32722525, 34726335, 35773312
Autistic Disorder	Associate	15830322, 22738016
Bipolar Disorder	Associate	17113057, 18585682, 28751646, 35260864
Brain Diseases	Associate	24504326, 26648591, 28936771, 40149474
Brunner Syndrome	Associate	34923109
Carcinoma Basal Cell	Associate	33928395
Carcinoma Squamous Cell	Associate	39694330
Cognition Disorders	Associate	40149474
Congenital Abnormalities	Associate	20384727
Delirium	Associate	39210294
Developmental Disabilities	Associate	23933818, 24372385, 24504326, 24903190, 28126851, 28182669, 34726335, 36036558, 37319252, 38307912, 40149474
Diastrophic dysplasia	Associate	28182669, 38307912
Disease	Associate	22833210, 34726335
Drug Resistant Epilepsy	Associate	24903190
Dysarthria	Associate	25596506
Dyskinesia Drug Induced	Associate	23226551
Epilepsies Partial	Associate	28182669, 37390664
Epilepsy	Associate	20384727, 21883175, 24372385, 24504326, 27839871, 28126851, 28182669, 28242877, 28936771, 29056246, 29261713, 32036246, 34726335, 35228668, 37319252 View all (4 more)
Epilepsy Familial Mesial Temporal Lobe	Associate	34086756
Epilepsy Idiopathic Generalized	Associate	36842888
Epilepsy Rolandic	Associate	22738016, 24372385, 28936771, 29358611, 29789371
Epilepsy rolandic with paroxysmal exercise induced dystonia and writer's cramp	Associate	24372385
Epileptic Encephalopathy Early Infantile 3	Associate	37867425
Fabry Disease	Associate	40233852
Focal Cortical Dysplasia	Associate	10961623
Friedreich Ataxia	Associate	39519164
Gait Disorders Neurologic	Associate	35177115
Goiter Multinodular 2	Associate	35964359
Heredodegenerative Disorders Nervous System	Associate	27839871
Huntington Disease	Associate	17018562, 26148071, 36902304
Hypokinesia	Associate	23226551
Hypotension	Associate	35260864
Intellectual Disability	Associate	20384727, 22833210, 27839871, 28182669, 38307912
Landau Kleffner Syndrome	Associate	24828792, 28182669
Language Disorders	Associate	28242877, 28440294
Leukomalacia Periventricular	Stimulate	24046081
Lujan Fryns syndrome	Associate	25596506
Lung Diseases	Associate	32014051
Malformations of Cortical Development	Associate	10961623, 24613745
Melanoma	Associate	21499247, 24739903, 28356599, 28522871, 32241263
Mental Disorders	Associate	40149474
Motor Disorders	Associate	25596506
Movement Disorders	Associate	23226551
Multiple Sclerosis	Associate	35008743
Myoclonic dystonia	Associate	35773312
Myoclonic Epilepsy Juvenile	Associate	36842888
Nasopharyngeal Carcinoma	Associate	26681223
Nasopharyngeal Diseases	Associate	26681223
Nasopharyngitis	Associate	26681223
Neoplasms	Inhibit	24739903
Neoplasms	Associate	25715123, 27203738
Nerve Degeneration	Associate	24504326, 28126851, 32771066
Neurodegenerative Diseases	Associate	35110392
Obesity	Associate	35059043
Paraneoplastic Syndromes	Associate	32771066
Parkinson Disease	Associate	21876681, 24915238, 28320167, 29318639
Pediatric acute onset neuropsychiatric syndrome	Associate	35773312
Polypoidal Choroidal Vasculopathy	Associate	29789371
Schizophrenia	Stimulate	18585682
Schizophrenia	Associate	22833210, 35396579, 38307912, 8613785
Seizures	Associate	24903190, 28182669, 40149474
Speech Disorders	Associate	25596506
Status Epilepticus	Associate	24613745
Teratoma	Associate	32771066
Thyroid Cancer Papillary	Associate	35964359
Trigeminal Neuralgia	Associate	40149474

GRIN2A (glutamate ionotropic receptor NMDA type subunit 2A)