Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	1741
Gene name	Discs large MAGUK scaffold protein 3
Gene symbol	DLG3
Synonyms (NCBI Gene)	MRXMRX90NEDLGPPP1R82SAP102XLID90XLMR
Chromosome	X
Chromosome location	Xq13.1
Summary	This gene encodes a member of the membrane-associated guanylate kinase protein family. The encoded protein may play a role in clustering of NMDA receptors at excitatory synapses. It may also negatively regulate cell proliferation through interaction with

10 Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs144225009	C>T	Conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, genic upstream transcript variant, coding sequence variant
rs149595793	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs398122846	->C	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant
rs587777359	G>C	Pathogenic	Splice donor variant, genic upstream transcript variant
rs587777360	G>C	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs727503900	T>C,G	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1213060424	C>A,T	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, synonymous variant
rs1241142887	T>A,C	Pathogenic	Coding sequence variant, stop gained, synonymous variant, genic upstream transcript variant
rs1602857000	C>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1602991098	C>T	Likely-pathogenic	Coding sequence variant, stop gained

359 Show/Hide all (359)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017838	hsa-miR-335-5p	Microarray	18185580
MIRT045183	hsa-miR-186-5p	CLASH	23622248
MIRT040203	hsa-miR-615-3p	CLASH	23622248
MIRT938201	hsa-miR-410	CLIP-seq
MIRT938202	hsa-miR-4652-3p	CLIP-seq
MIRT938203	hsa-miR-4662a-3p	CLIP-seq
MIRT938204	hsa-miR-885-5p	CLIP-seq
MIRT938205	hsa-miR-105	CLIP-seq
MIRT938206	hsa-miR-1179	CLIP-seq
MIRT938207	hsa-miR-1236	CLIP-seq
MIRT938208	hsa-miR-1252	CLIP-seq
MIRT938209	hsa-miR-128	CLIP-seq
MIRT938210	hsa-miR-1303	CLIP-seq
MIRT938211	hsa-miR-1321	CLIP-seq
MIRT938212	hsa-miR-143	CLIP-seq
MIRT938213	hsa-miR-2117	CLIP-seq
MIRT938214	hsa-miR-27a	CLIP-seq
MIRT938215	hsa-miR-27b	CLIP-seq
MIRT938216	hsa-miR-299-5p	CLIP-seq
MIRT938217	hsa-miR-3064-3p	CLIP-seq
MIRT938218	hsa-miR-3123	CLIP-seq
MIRT938219	hsa-miR-3126-5p	CLIP-seq
MIRT938220	hsa-miR-3143	CLIP-seq
MIRT938221	hsa-miR-3144-5p	CLIP-seq
MIRT938222	hsa-miR-3161	CLIP-seq
MIRT938223	hsa-miR-3162-5p	CLIP-seq
MIRT938224	hsa-miR-3182	CLIP-seq
MIRT938225	hsa-miR-3183	CLIP-seq
MIRT938226	hsa-miR-3186-3p	CLIP-seq
MIRT938227	hsa-miR-3191	CLIP-seq
MIRT938228	hsa-miR-3192	CLIP-seq
MIRT938229	hsa-miR-335	CLIP-seq
MIRT938230	hsa-miR-342-5p	CLIP-seq
MIRT938231	hsa-miR-3649	CLIP-seq
MIRT938232	hsa-miR-365	CLIP-seq
MIRT938233	hsa-miR-3689a-3p	CLIP-seq
MIRT938234	hsa-miR-3689c	CLIP-seq
MIRT938235	hsa-miR-369-3p	CLIP-seq
MIRT938236	hsa-miR-374c	CLIP-seq
MIRT938237	hsa-miR-375	CLIP-seq
MIRT938238	hsa-miR-3909	CLIP-seq
MIRT938239	hsa-miR-3919	CLIP-seq
MIRT938201	hsa-miR-410	CLIP-seq
MIRT938240	hsa-miR-4252	CLIP-seq
MIRT938241	hsa-miR-4273	CLIP-seq
MIRT938242	hsa-miR-4277	CLIP-seq
MIRT938243	hsa-miR-4292	CLIP-seq
MIRT938244	hsa-miR-4308	CLIP-seq
MIRT938245	hsa-miR-4419a	CLIP-seq
MIRT938246	hsa-miR-4447	CLIP-seq
MIRT938247	hsa-miR-4457	CLIP-seq
MIRT938248	hsa-miR-4464	CLIP-seq
MIRT938249	hsa-miR-4472	CLIP-seq
MIRT938250	hsa-miR-4494	CLIP-seq
MIRT938251	hsa-miR-4510	CLIP-seq
MIRT938252	hsa-miR-4522	CLIP-seq
MIRT938253	hsa-miR-4651	CLIP-seq
MIRT938202	hsa-miR-4652-3p	CLIP-seq
MIRT938254	hsa-miR-4652-5p	CLIP-seq
MIRT938255	hsa-miR-4659a-3p	CLIP-seq
MIRT938256	hsa-miR-4659b-3p	CLIP-seq
MIRT938257	hsa-miR-4662a-5p	CLIP-seq
MIRT938258	hsa-miR-4664-5p	CLIP-seq
MIRT938259	hsa-miR-4677-5p	CLIP-seq
MIRT938260	hsa-miR-4690-3p	CLIP-seq
MIRT938261	hsa-miR-4700-3p	CLIP-seq
MIRT938262	hsa-miR-4704-3p	CLIP-seq
MIRT938263	hsa-miR-4709-3p	CLIP-seq
MIRT938264	hsa-miR-4713-5p	CLIP-seq
MIRT938265	hsa-miR-4715-3p	CLIP-seq
MIRT938266	hsa-miR-4716-3p	CLIP-seq
MIRT938267	hsa-miR-4723-3p	CLIP-seq
MIRT938268	hsa-miR-4723-5p	CLIP-seq
MIRT938269	hsa-miR-4728-5p	CLIP-seq
MIRT938270	hsa-miR-4739	CLIP-seq
MIRT938271	hsa-miR-4748	CLIP-seq
MIRT938272	hsa-miR-4753-3p	CLIP-seq
MIRT938273	hsa-miR-4756-3p	CLIP-seq
MIRT938274	hsa-miR-4756-5p	CLIP-seq
MIRT938275	hsa-miR-4768-5p	CLIP-seq
MIRT938276	hsa-miR-4769-3p	CLIP-seq
MIRT938277	hsa-miR-4770	CLIP-seq
MIRT938278	hsa-miR-4773	CLIP-seq
MIRT938279	hsa-miR-4776-3p	CLIP-seq
MIRT938280	hsa-miR-4779	CLIP-seq
MIRT938281	hsa-miR-4790-3p	CLIP-seq
MIRT938282	hsa-miR-489	CLIP-seq
MIRT938283	hsa-miR-492	CLIP-seq
MIRT938284	hsa-miR-499a-5p	CLIP-seq
MIRT938285	hsa-miR-513b	CLIP-seq
MIRT938286	hsa-miR-513c	CLIP-seq
MIRT938287	hsa-miR-514b-5p	CLIP-seq
MIRT938288	hsa-miR-539	CLIP-seq
MIRT938289	hsa-miR-582-5p	CLIP-seq
MIRT938290	hsa-miR-608	CLIP-seq
MIRT938291	hsa-miR-642b	CLIP-seq
MIRT938292	hsa-miR-646	CLIP-seq
MIRT938293	hsa-miR-655	CLIP-seq
MIRT938294	hsa-miR-659	CLIP-seq
MIRT938295	hsa-miR-670	CLIP-seq
MIRT938296	hsa-miR-765	CLIP-seq
MIRT1977610	hsa-miR-1914	CLIP-seq
MIRT1977611	hsa-miR-3065-5p	CLIP-seq
MIRT938253	hsa-miR-4651	CLIP-seq
MIRT938260	hsa-miR-4690-3p	CLIP-seq
MIRT938290	hsa-miR-608	CLIP-seq
MIRT1977612	hsa-miR-1197	CLIP-seq
MIRT1977613	hsa-miR-1266	CLIP-seq
MIRT1977614	hsa-miR-138	CLIP-seq
MIRT938212	hsa-miR-143	CLIP-seq
MIRT1977615	hsa-miR-149	CLIP-seq
MIRT1977616	hsa-miR-204	CLIP-seq
MIRT1977617	hsa-miR-205	CLIP-seq
MIRT1977618	hsa-miR-211	CLIP-seq
MIRT938213	hsa-miR-2117	CLIP-seq
MIRT1977619	hsa-miR-3064-5p	CLIP-seq
MIRT1977620	hsa-miR-3130-3p	CLIP-seq
MIRT1977621	hsa-miR-3130-5p	CLIP-seq
MIRT1977622	hsa-miR-3148	CLIP-seq
MIRT1977623	hsa-miR-3153	CLIP-seq
MIRT938228	hsa-miR-3192	CLIP-seq
MIRT1977624	hsa-miR-326	CLIP-seq
MIRT1977625	hsa-miR-330-5p	CLIP-seq
MIRT1977626	hsa-miR-339-5p	CLIP-seq
MIRT1977627	hsa-miR-3929	CLIP-seq
MIRT938242	hsa-miR-4277	CLIP-seq
MIRT1977628	hsa-miR-4279	CLIP-seq
MIRT1977629	hsa-miR-4314	CLIP-seq
MIRT1977630	hsa-miR-4419b	CLIP-seq
MIRT1977631	hsa-miR-4436a	CLIP-seq
MIRT1977632	hsa-miR-4446-3p	CLIP-seq
MIRT1977633	hsa-miR-4462	CLIP-seq
MIRT1977634	hsa-miR-4478	CLIP-seq
MIRT1977635	hsa-miR-4482	CLIP-seq
MIRT938250	hsa-miR-4494	CLIP-seq
MIRT1977636	hsa-miR-4518	CLIP-seq
MIRT1977637	hsa-miR-4520a-3p	CLIP-seq
MIRT1977638	hsa-miR-4520b-3p	CLIP-seq
MIRT938252	hsa-miR-4522	CLIP-seq
MIRT1977639	hsa-miR-4646-5p	CLIP-seq
MIRT938202	hsa-miR-4652-3p	CLIP-seq
MIRT1977640	hsa-miR-4668-5p	CLIP-seq
MIRT1977641	hsa-miR-4688	CLIP-seq
MIRT1977642	hsa-miR-4699-5p	CLIP-seq
MIRT938261	hsa-miR-4700-3p	CLIP-seq
MIRT938262	hsa-miR-4704-3p	CLIP-seq
MIRT938269	hsa-miR-4728-5p	CLIP-seq
MIRT938277	hsa-miR-4770	CLIP-seq
MIRT1977643	hsa-miR-4794	CLIP-seq
MIRT1977644	hsa-miR-486-3p	CLIP-seq
MIRT938284	hsa-miR-499a-5p	CLIP-seq
MIRT938285	hsa-miR-513b	CLIP-seq
MIRT1977645	hsa-miR-549	CLIP-seq
MIRT1977646	hsa-miR-604	CLIP-seq
MIRT938291	hsa-miR-642b	CLIP-seq
MIRT938292	hsa-miR-646	CLIP-seq
MIRT1977647	hsa-miR-647	CLIP-seq
MIRT938205	hsa-miR-105	CLIP-seq
MIRT2212932	hsa-miR-1207-3p	CLIP-seq
MIRT2212933	hsa-miR-1226	CLIP-seq
MIRT2212934	hsa-miR-125a-3p	CLIP-seq
MIRT2212935	hsa-miR-1272	CLIP-seq
MIRT938209	hsa-miR-128	CLIP-seq
MIRT938210	hsa-miR-1303	CLIP-seq
MIRT938211	hsa-miR-1321	CLIP-seq
MIRT2212936	hsa-miR-139-5p	CLIP-seq
MIRT2212937	hsa-miR-141	CLIP-seq
MIRT938212	hsa-miR-143	CLIP-seq
MIRT1977615	hsa-miR-149	CLIP-seq
MIRT2212938	hsa-miR-1910	CLIP-seq
MIRT2212939	hsa-miR-192	CLIP-seq
MIRT2212940	hsa-miR-200a	CLIP-seq
MIRT938213	hsa-miR-2117	CLIP-seq
MIRT2212941	hsa-miR-215	CLIP-seq
MIRT2212942	hsa-miR-2276	CLIP-seq
MIRT938214	hsa-miR-27a	CLIP-seq
MIRT938215	hsa-miR-27b	CLIP-seq
MIRT938216	hsa-miR-299-5p	CLIP-seq
MIRT1977619	hsa-miR-3064-5p	CLIP-seq
MIRT2212943	hsa-miR-3120-3p	CLIP-seq
MIRT2212944	hsa-miR-3120-5p	CLIP-seq
MIRT2212945	hsa-miR-3124-3p	CLIP-seq
MIRT1977620	hsa-miR-3130-3p	CLIP-seq
MIRT2212946	hsa-miR-3135b	CLIP-seq
MIRT938223	hsa-miR-3162-5p	CLIP-seq
MIRT2212947	hsa-miR-3184	CLIP-seq
MIRT2212948	hsa-miR-3190	CLIP-seq
MIRT938228	hsa-miR-3192	CLIP-seq
MIRT938230	hsa-miR-342-5p	CLIP-seq
MIRT2212949	hsa-miR-3607-5p	CLIP-seq
MIRT2212950	hsa-miR-3611	CLIP-seq
MIRT938232	hsa-miR-365	CLIP-seq
MIRT2212951	hsa-miR-3652	CLIP-seq
MIRT938238	hsa-miR-3909	CLIP-seq
MIRT2212952	hsa-miR-3934	CLIP-seq
MIRT2212953	hsa-miR-423-5p	CLIP-seq
MIRT2212954	hsa-miR-4261	CLIP-seq
MIRT938242	hsa-miR-4277	CLIP-seq
MIRT2212955	hsa-miR-4283	CLIP-seq
MIRT2212956	hsa-miR-4430	CLIP-seq
MIRT2212957	hsa-miR-4468	CLIP-seq
MIRT2212958	hsa-miR-4489	CLIP-seq
MIRT2212959	hsa-miR-4492	CLIP-seq
MIRT2212960	hsa-miR-4496	CLIP-seq
MIRT2212961	hsa-miR-4498	CLIP-seq
MIRT2212962	hsa-miR-4505	CLIP-seq
MIRT938252	hsa-miR-4522	CLIP-seq
MIRT2212963	hsa-miR-455-3p	CLIP-seq
MIRT938253	hsa-miR-4651	CLIP-seq
MIRT938202	hsa-miR-4652-3p	CLIP-seq
MIRT2212964	hsa-miR-4656	CLIP-seq
MIRT938258	hsa-miR-4664-5p	CLIP-seq
MIRT2212965	hsa-miR-4667-3p	CLIP-seq
MIRT938259	hsa-miR-4677-5p	CLIP-seq
MIRT2212966	hsa-miR-4696	CLIP-seq
MIRT938262	hsa-miR-4704-3p	CLIP-seq
MIRT2212967	hsa-miR-4717-3p	CLIP-seq
MIRT938269	hsa-miR-4728-5p	CLIP-seq
MIRT2212968	hsa-miR-4731-5p	CLIP-seq
MIRT2212969	hsa-miR-4733-3p	CLIP-seq
MIRT938270	hsa-miR-4739	CLIP-seq
MIRT938274	hsa-miR-4756-5p	CLIP-seq
MIRT938275	hsa-miR-4768-5p	CLIP-seq
MIRT938277	hsa-miR-4770	CLIP-seq
MIRT1977643	hsa-miR-4794	CLIP-seq
MIRT2212970	hsa-miR-511	CLIP-seq
MIRT938285	hsa-miR-513b	CLIP-seq
MIRT938288	hsa-miR-539	CLIP-seq
MIRT2212971	hsa-miR-558	CLIP-seq
MIRT938289	hsa-miR-582-5p	CLIP-seq
MIRT2212972	hsa-miR-587	CLIP-seq
MIRT1977646	hsa-miR-604	CLIP-seq
MIRT938290	hsa-miR-608	CLIP-seq
MIRT938291	hsa-miR-642b	CLIP-seq
MIRT938292	hsa-miR-646	CLIP-seq
MIRT1977647	hsa-miR-647	CLIP-seq
MIRT938294	hsa-miR-659	CLIP-seq
MIRT2212973	hsa-miR-665	CLIP-seq
MIRT2212974	hsa-miR-7	CLIP-seq
MIRT2212975	hsa-miR-762	CLIP-seq
MIRT2212976	hsa-miR-764	CLIP-seq
MIRT938204	hsa-miR-885-5p	CLIP-seq
MIRT2212939	hsa-miR-192	CLIP-seq
MIRT2212941	hsa-miR-215	CLIP-seq
MIRT2442104	hsa-miR-1343	CLIP-seq
MIRT2442105	hsa-miR-4793-5p	CLIP-seq
MIRT2442104	hsa-miR-1343	CLIP-seq
MIRT2448290	hsa-miR-2110	CLIP-seq
MIRT1977611	hsa-miR-3065-5p	CLIP-seq
MIRT2212945	hsa-miR-3124-3p	CLIP-seq
MIRT2212946	hsa-miR-3135b	CLIP-seq
MIRT2448291	hsa-miR-3147	CLIP-seq
MIRT2448292	hsa-miR-3150a-3p	CLIP-seq
MIRT2448293	hsa-miR-3175	CLIP-seq
MIRT2212947	hsa-miR-3184	CLIP-seq
MIRT2212951	hsa-miR-3652	CLIP-seq
MIRT2212953	hsa-miR-423-5p	CLIP-seq
MIRT2448294	hsa-miR-4425	CLIP-seq
MIRT2212956	hsa-miR-4430	CLIP-seq
MIRT2448295	hsa-miR-4459	CLIP-seq
MIRT2212957	hsa-miR-4468	CLIP-seq
MIRT2212959	hsa-miR-4492	CLIP-seq
MIRT2212961	hsa-miR-4498	CLIP-seq
MIRT938269	hsa-miR-4728-5p	CLIP-seq
MIRT2442105	hsa-miR-4793-5p	CLIP-seq
MIRT2448296	hsa-miR-545	CLIP-seq
MIRT2448297	hsa-miR-548aa	CLIP-seq
MIRT2212973	hsa-miR-665	CLIP-seq
MIRT2212975	hsa-miR-762	CLIP-seq
MIRT938296	hsa-miR-765	CLIP-seq
MIRT2448298	hsa-miR-939	CLIP-seq
MIRT2448290	hsa-miR-2110	CLIP-seq
MIRT1977611	hsa-miR-3065-5p	CLIP-seq
MIRT2212946	hsa-miR-3135b	CLIP-seq
MIRT2448291	hsa-miR-3147	CLIP-seq
MIRT2448292	hsa-miR-3150a-3p	CLIP-seq
MIRT2448293	hsa-miR-3175	CLIP-seq
MIRT2212947	hsa-miR-3184	CLIP-seq
MIRT2212951	hsa-miR-3652	CLIP-seq
MIRT2212953	hsa-miR-423-5p	CLIP-seq
MIRT2448294	hsa-miR-4425	CLIP-seq
MIRT2212956	hsa-miR-4430	CLIP-seq
MIRT2448295	hsa-miR-4459	CLIP-seq
MIRT2212957	hsa-miR-4468	CLIP-seq
MIRT2212959	hsa-miR-4492	CLIP-seq
MIRT2212961	hsa-miR-4498	CLIP-seq
MIRT938269	hsa-miR-4728-5p	CLIP-seq
MIRT2448296	hsa-miR-545	CLIP-seq
MIRT2448297	hsa-miR-548aa	CLIP-seq
MIRT2212973	hsa-miR-665	CLIP-seq
MIRT2212975	hsa-miR-762	CLIP-seq
MIRT938296	hsa-miR-765	CLIP-seq
MIRT2448298	hsa-miR-939	CLIP-seq
MIRT2516845	hsa-miR-1231	CLIP-seq
MIRT2448290	hsa-miR-2110	CLIP-seq
MIRT2516846	hsa-miR-3121-3p	CLIP-seq
MIRT2212946	hsa-miR-3135b	CLIP-seq
MIRT2448291	hsa-miR-3147	CLIP-seq
MIRT2448292	hsa-miR-3150a-3p	CLIP-seq
MIRT2448293	hsa-miR-3175	CLIP-seq
MIRT2212947	hsa-miR-3184	CLIP-seq
MIRT2212948	hsa-miR-3190	CLIP-seq
MIRT938230	hsa-miR-342-5p	CLIP-seq
MIRT2212951	hsa-miR-3652	CLIP-seq
MIRT2212953	hsa-miR-423-5p	CLIP-seq
MIRT2212955	hsa-miR-4283	CLIP-seq
MIRT2448294	hsa-miR-4425	CLIP-seq
MIRT2212956	hsa-miR-4430	CLIP-seq
MIRT2212957	hsa-miR-4468	CLIP-seq
MIRT2212958	hsa-miR-4489	CLIP-seq
MIRT2212959	hsa-miR-4492	CLIP-seq
MIRT2212961	hsa-miR-4498	CLIP-seq
MIRT2212962	hsa-miR-4505	CLIP-seq
MIRT938253	hsa-miR-4651	CLIP-seq
MIRT938258	hsa-miR-4664-5p	CLIP-seq
MIRT2516847	hsa-miR-4667-5p	CLIP-seq
MIRT2516848	hsa-miR-4700-5p	CLIP-seq
MIRT938269	hsa-miR-4728-5p	CLIP-seq
MIRT2212968	hsa-miR-4731-5p	CLIP-seq
MIRT2516849	hsa-miR-586	CLIP-seq
MIRT938290	hsa-miR-608	CLIP-seq
MIRT2516850	hsa-miR-637	CLIP-seq
MIRT938292	hsa-miR-646	CLIP-seq
MIRT2212974	hsa-miR-7	CLIP-seq
MIRT2212975	hsa-miR-762	CLIP-seq
MIRT2448298	hsa-miR-939	CLIP-seq
MIRT2516845	hsa-miR-1231	CLIP-seq
MIRT2448290	hsa-miR-2110	CLIP-seq
MIRT2516846	hsa-miR-3121-3p	CLIP-seq
MIRT2212946	hsa-miR-3135b	CLIP-seq
MIRT2448291	hsa-miR-3147	CLIP-seq
MIRT2448292	hsa-miR-3150a-3p	CLIP-seq
MIRT2448293	hsa-miR-3175	CLIP-seq
MIRT2212947	hsa-miR-3184	CLIP-seq
MIRT2212948	hsa-miR-3190	CLIP-seq
MIRT938230	hsa-miR-342-5p	CLIP-seq
MIRT2212951	hsa-miR-3652	CLIP-seq
MIRT2212953	hsa-miR-423-5p	CLIP-seq
MIRT2212955	hsa-miR-4283	CLIP-seq
MIRT2448294	hsa-miR-4425	CLIP-seq
MIRT2212956	hsa-miR-4430	CLIP-seq
MIRT2212957	hsa-miR-4468	CLIP-seq
MIRT2212958	hsa-miR-4489	CLIP-seq
MIRT2212959	hsa-miR-4492	CLIP-seq
MIRT2212961	hsa-miR-4498	CLIP-seq
MIRT2212962	hsa-miR-4505	CLIP-seq
MIRT938253	hsa-miR-4651	CLIP-seq
MIRT938258	hsa-miR-4664-5p	CLIP-seq
MIRT2516847	hsa-miR-4667-5p	CLIP-seq
MIRT2516848	hsa-miR-4700-5p	CLIP-seq
MIRT938269	hsa-miR-4728-5p	CLIP-seq
MIRT2212968	hsa-miR-4731-5p	CLIP-seq
MIRT2516849	hsa-miR-586	CLIP-seq
MIRT938290	hsa-miR-608	CLIP-seq
MIRT2516850	hsa-miR-637	CLIP-seq
MIRT938292	hsa-miR-646	CLIP-seq
MIRT2212974	hsa-miR-7	CLIP-seq
MIRT2212975	hsa-miR-762	CLIP-seq
MIRT2448298	hsa-miR-939	CLIP-seq

37 Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001736	Process	Establishment of planar polarity	IEA
GO:0005515	Function	Protein binding	IPI	19118189, 19389623, 25780553, 32296183
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005912	Component	Adherens junction	NAS	23397623
GO:0005923	Component	Bicellular tight junction	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0008285	Process	Negative regulation of cell population proliferation	NAS	9188857
GO:0016323	Component	Basolateral plasma membrane	IBA
GO:0019900	Function	Kinase binding	IDA	21119615
GO:0019900	Function	Kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0019902	Function	Phosphatase binding	IDA	19389623
GO:0031594	Component	Neuromuscular junction	IBA
GO:0031594	Component	Neuromuscular junction	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0032281	Component	AMPA glutamate receptor complex	IEA
GO:0035255	Function	Ionotropic glutamate receptor binding	IBA
GO:0035418	Process	Protein localization to synapse	IBA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0043113	Process	Receptor clustering	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IBA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	IEA
GO:0045197	Process	Establishment or maintenance of epithelial cell apical/basal polarity	NAS	23397623
GO:0097120	Process	Receptor localization to synapse	IBA
GO:0098609	Process	Cell-cell adhesion	IBA
GO:0098839	Component	Postsynaptic density membrane	IBA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IBA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA

MIM	HGNC	e!Ensembl
300189	2902	ENSG00000082458

Q92796

Protein name

Disks large homolog 3 (Neuroendocrine-DLG) (Synapse-associated protein 102) (SAP-102) (SAP102) (XLMR)

Protein function

Required for learning most likely through its role in synaptic plasticity following NMDA receptor signaling.

PDB

1UM7 , 2FE5 , 2I1N

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00018	SH3_1	507 → 563	SH3 domain	Domain
PF00595	PDZ	386 → 464	PDZ domain	Domain
PF00595	PDZ	226 → 310	PDZ domain	Domain
PF00595	PDZ	131 → 215	PDZ domain	Domain
PF00625	Guanylate_kin	626 → 804	Guanylate kinase	Domain
PF10600	PDZ_assoc	311 → 385	PDZ-associated domain of NMDA receptors	Domain

Sequence

MHKHQHCCKCPECYEVTRLAALRRLEPPGYGDWQVPDPYGPGGGNGASAGYGGYSSQTLP
SQAGATPTPRTKAKLIPTGRDVGPVPPKPVPGKSTPKLNGSGPSWWPECTCTNRDWYEQV
NGSDGMFKYEEIVLERGNSGLGFSIAGGIDNPHVPDDPGIFITKIIPGGAAAMDGRLGVN
DCVLRVNEVDVSEVVHSRAVEALKEAGPVVRLVVRRRQPPPETIMEVNLLKGPKGLGFSI
AGGIGNQHIPGDNSIYITKIIEGGAAQKDGRLQIGDRLLAVNNTNLQDVRHEEAVASLKN
TSDMVYLKVAKPGSLHLNDMYAPPDYASTFTALADNHISHNSSLGYLGAVESKVSYPAPP
QVPPTRYSPIPRHMLAEEDFTREPRKIILHKGSTGLGFNIVGGEDGEGIFVSFILAGGPA
DLSGELRRGDRILSVNGVNLRNATHEQAAAALKRAGQSVTIVAQYRPEEYSRFESKIHDL
REQMMNSSMSSGSGSLRTSEKRSLYVRALFDYDRTRDSCLPSQGLSFSYGDILHVINASD
DEWWQARLVTPHGESEQIGVIPSKKRVEKKERARLKTVKFHARTGMIESNRDFPGLSDDY
YGAKNLKGQEDAILSYEPVTRQEIHYARPVIILGPMKDRVNDDLISEFPHKFGSCVPHTT
RPRRDNEVDGQDYHFVVSREQMEKDIQDNKFIEAGQFNDNLYGTSIQSVRAVAERGKHCI
LDVSGNAIKRLQQAQLYPIAIFIKPKSIEALMEMNRRQTYEQANKIYDKAMKLEQEFGEY
FTAIVQGDSLEEIYNKIKQIIEDQSGHYIWVPSPEKL

Sequence length

817

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Hippo signaling pathway	Unblocking of NMDA receptors, glutamate binding and activation
Tight junction	Activation of Ca-permeable Kainate Receptor
Human papillomavirus infection	RAF/MAP kinase cascade
	Neurexins and neuroligins
	Synaptic adhesion-like molecules

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DLG3-related disorder	Pathogenic	rs1213060424	RCV004545793	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1602880906, rs2087377266	RCV000850216 RCV001260607	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, X-linked 90	Pathogenic; Likely pathogenic	rs2147892965, rs2147842078, rs587777359, rs587777360, rs2519868619, rs2147771642, rs1373474125, rs1555960066, rs2519725056, rs398122846, rs398122847, rs1602857000	RCV003485731 RCV001814755 RCV000115022 RCV000115023 RCV003127438 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2147842365	RCV005912718	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (16)
BIPOLAR DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Uncertain significance	ClinVar Disgenet	—	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
intellectual deficiency	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 90	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL IMPAIRMENT	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION, X-LINKED NONSYNDROMIC	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
non-syndromic X-linked intellectual disability	—	ClinGen	15185169, 17344405, 19795139, 23103165, 24721225, 25649377, 27222290, ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED INTELLECTUAL DISABILITY	—	CTD	21807943	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED NON-SYNDROMIC INTELLECTUAL DISABILITY	—	Orphanet	15850492	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TSPAN7	3	["Intellectual developmental disorder, x-linked","X-linked intellectual disability","non-syndromic X-linked intellectual disability"]	[]	8	["Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","CTD (Intellectual developmental disorder, x-linked)","ClinVar (Intellectual developmental disorder, x-linked)","GenCC (Intellectual developmental disorder, x-linked)","ClinGen (X-linked intellectual disability)","Orphanet (X-linked intellectual disability)","ClinGen (non-syndromic X-linked intellectual disability)"]
GDI1	3	["Intellectual developmental disorder, x-linked","X-linked intellectual disability","non-syndromic X-linked intellectual disability"]	[]	9	["Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","CTD (Intellectual developmental disorder, x-linked)","ClinVar (Intellectual developmental disorder, x-linked)","ClinGen (X-linked intellectual disability)","Orphanet (X-linked intellectual disability)","GWAS catalog (X-linked intellectual disability)","CTD (X-linked intellectual disability)","ClinGen (non-syndromic X-linked intellectual disability)"]
ACSL4	3	["Intellectual developmental disorder, x-linked","X-linked intellectual disability","non-syndromic X-linked intellectual disability"]	[]	7	["Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","CTD (Intellectual developmental disorder, x-linked)","ClinVar (Intellectual developmental disorder, x-linked)","ClinGen (X-linked intellectual disability)","Orphanet (X-linked intellectual disability)","ClinGen (non-syndromic X-linked intellectual disability)"]
SLC9A7	2	["Intellectual developmental disorder, x-linked","X-linked intellectual disability"]	[]	5	["Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","ClinVar (Intellectual developmental disorder, x-linked)","Orphanet (X-linked intellectual disability)","GWAS catalog (X-linked intellectual disability)"]
NEXMIF	3	["Epilepsy","Intellectual developmental disorder, x-linked","X-linked intellectual disability"]	[]	6	["Disgenet (Epilepsy)","Disgenet (Intellectual developmental disorder, x-linked)","HPO (Intellectual developmental disorder, x-linked)","CTD (Intellectual developmental disorder, x-linked)","Orphanet (X-linked intellectual disability)","CTD (X-linked intellectual disability)"]

DLG3 (discs large MAGUK scaffold protein 3)

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