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	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

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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

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

Sequence

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

Sequence length

817

Interactions

View interactions

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

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
DLG3-related disorder	Pathogenic	rs1213060424	RCV004545793
Intellectual disability	Pathogenic	rs1602880906, rs2087377266	RCV000850216 RCV001260607
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 RCV000012274 RCV000012275 RCV003322745 RCV003387587 RCV000022834 RCV000022835 RCV003117688
See cases	Likely pathogenic	rs2147842365	RCV001420296
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs2147842365	RCV005912718

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Epilepsy	Uncertain significance	rs1057519008	RCV000415247
intellectual deficiency	Uncertain significance	rs1057519008	RCV000415247
Neurodevelopmental disorder	Uncertain significance	rs2147896811	RCV001780055
Nonpapillary renal cell carcinoma	Likely benign	rs2519741397	RCV005931819

Show/Hide Text Mining Associations (16)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bipolar Disorder	Inhibit	17113057
Breast Neoplasms	Associate	31271664, 37584152
Colorectal Neoplasms	Associate	32571262
Depressive Disorder	Associate	15185169
Developmental Disabilities	Associate	33982443
Distal myopathy Nonaka type	Associate	38273165
Heart Defects Congenital	Associate	33982443
Intellectual Disability	Associate	10204842, 10528854, 24721225, 25649377, 27222290, 33982443, 38273165, 8825049
Mental Disorders	Associate	33982443
Mental Retardation Autosomal Recessive 1	Associate	15185169
Mental Retardation X Linked	Associate	15185169, 15850492, 15918153, 1870093
Mental Retardation X Linked Nonsyndromic	Associate	15185169
Neoplasms	Associate	23282184
Neurologic Manifestations	Associate	38273165
Pathological Conditions Signs and Symptoms	Associate	38273165
Stomach Neoplasms	Associate	12174360

DLG3 (discs large MAGUK scaffold protein 3)