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	22941
Gene name	SH3 and multiple ankyrin repeat domains 2
Gene symbol	SHANK2
Synonyms (NCBI Gene)	AUTS17CORTBP1CTTNBP1ProSAP1SHANKSPANK-3
Chromosome	11
Chromosome location	11q13.3-q13.4
Summary	This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, inc

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SNP ID	Visualize variation	Clinical significance	Consequence
rs1555013332	->T	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555100912	->C	Likely-pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1555100954	G>A	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs1565526121	G>A	Likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs1565527302	TG>-	Pathogenic	Coding sequence variant, intron variant, stop gained
rs1590930234	G>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant

551

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miRTarBase ID	miRNA	Experiments	Reference
MIRT035822	hsa-miR-1307-3p	CLASH	23622248
MIRT053009	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	22797699
MIRT053009	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	22797699
MIRT053009	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	22797699
MIRT053009	hsa-miR-155-5p	Luciferase reporter assayqRT-PCR	22797699
MIRT653867	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT653866	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT653865	hsa-miR-1470	HITS-CLIP	23824327
MIRT653864	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653863	hsa-miR-4469	HITS-CLIP	23824327
MIRT653862	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT653861	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT653860	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT653867	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT653866	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT653865	hsa-miR-1470	HITS-CLIP	23824327
MIRT653864	hsa-miR-4667-3p	HITS-CLIP	23824327
MIRT653863	hsa-miR-4469	HITS-CLIP	23824327
MIRT653862	hsa-miR-4433a-5p	HITS-CLIP	23824327
MIRT653861	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT653860	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT1346068	hsa-miR-1	CLIP-seq
MIRT1346069	hsa-miR-101	CLIP-seq
MIRT1346070	hsa-miR-103b	CLIP-seq
MIRT1346071	hsa-miR-106a	CLIP-seq
MIRT1346072	hsa-miR-106b	CLIP-seq
MIRT1346073	hsa-miR-1206	CLIP-seq
MIRT1346074	hsa-miR-1225-5p	CLIP-seq
MIRT1346075	hsa-miR-1273d	CLIP-seq
MIRT1346076	hsa-miR-1301	CLIP-seq
MIRT1346077	hsa-miR-130a	CLIP-seq
MIRT1346078	hsa-miR-130b	CLIP-seq
MIRT1346079	hsa-miR-144	CLIP-seq
MIRT1346080	hsa-miR-153	CLIP-seq
MIRT1346081	hsa-miR-17	CLIP-seq
MIRT1346082	hsa-miR-190	CLIP-seq
MIRT1346083	hsa-miR-190b	CLIP-seq
MIRT1346084	hsa-miR-1910	CLIP-seq
MIRT1346085	hsa-miR-19a	CLIP-seq
MIRT1346086	hsa-miR-19b	CLIP-seq
MIRT1346087	hsa-miR-2052	CLIP-seq
MIRT1346088	hsa-miR-206	CLIP-seq
MIRT1346089	hsa-miR-20a	CLIP-seq
MIRT1346090	hsa-miR-20b	CLIP-seq
MIRT1346091	hsa-miR-28-5p	CLIP-seq
MIRT1346092	hsa-miR-300	CLIP-seq
MIRT1346093	hsa-miR-301a	CLIP-seq
MIRT1346094	hsa-miR-301b	CLIP-seq
MIRT1346095	hsa-miR-3120-3p	CLIP-seq
MIRT1346096	hsa-miR-3120-5p	CLIP-seq
MIRT1346097	hsa-miR-3138	CLIP-seq
MIRT1346098	hsa-miR-3139	CLIP-seq
MIRT1346099	hsa-miR-3190	CLIP-seq
MIRT1346100	hsa-miR-338-5p	CLIP-seq
MIRT1346101	hsa-miR-346	CLIP-seq
MIRT1346102	hsa-miR-3666	CLIP-seq
MIRT1346103	hsa-miR-3673	CLIP-seq
MIRT1346104	hsa-miR-3689a-3p	CLIP-seq
MIRT1346105	hsa-miR-3689c	CLIP-seq
MIRT1346106	hsa-miR-376a	CLIP-seq
MIRT1346107	hsa-miR-376b	CLIP-seq
MIRT1346108	hsa-miR-381	CLIP-seq
MIRT1346109	hsa-miR-3909	CLIP-seq
MIRT1346110	hsa-miR-3976	CLIP-seq
MIRT1346111	hsa-miR-4252	CLIP-seq
MIRT1346112	hsa-miR-4264	CLIP-seq
MIRT1346113	hsa-miR-4277	CLIP-seq
MIRT1346114	hsa-miR-4288	CLIP-seq
MIRT1346115	hsa-miR-4295	CLIP-seq
MIRT1346116	hsa-miR-4299	CLIP-seq
MIRT1346117	hsa-miR-4310	CLIP-seq
MIRT1346118	hsa-miR-4318	CLIP-seq
MIRT1346119	hsa-miR-4421	CLIP-seq
MIRT1346120	hsa-miR-4456	CLIP-seq
MIRT1346121	hsa-miR-4477b	CLIP-seq
MIRT1346122	hsa-miR-448	CLIP-seq
MIRT1346123	hsa-miR-450a	CLIP-seq
MIRT1346124	hsa-miR-450b-5p	CLIP-seq
MIRT1346125	hsa-miR-454	CLIP-seq
MIRT1346126	hsa-miR-4641	CLIP-seq
MIRT1346127	hsa-miR-4659a-5p	CLIP-seq
MIRT1346128	hsa-miR-4659b-5p	CLIP-seq
MIRT1346129	hsa-miR-4660	CLIP-seq
MIRT1346130	hsa-miR-4666-3p	CLIP-seq
MIRT1346131	hsa-miR-4691-3p	CLIP-seq
MIRT1346132	hsa-miR-4700-3p	CLIP-seq
MIRT1346133	hsa-miR-4752	CLIP-seq
MIRT1346134	hsa-miR-4768-3p	CLIP-seq
MIRT1346135	hsa-miR-4776-3p	CLIP-seq
MIRT1346136	hsa-miR-4797-3p	CLIP-seq
MIRT1346137	hsa-miR-4800-5p	CLIP-seq
MIRT1346138	hsa-miR-5047	CLIP-seq
MIRT1346139	hsa-miR-507	CLIP-seq
MIRT1346140	hsa-miR-5095	CLIP-seq
MIRT1346141	hsa-miR-519a	CLIP-seq
MIRT1346142	hsa-miR-519b-3p	CLIP-seq
MIRT1346143	hsa-miR-519c-3p	CLIP-seq
MIRT1346144	hsa-miR-519d	CLIP-seq
MIRT1346145	hsa-miR-548q	CLIP-seq
MIRT1346146	hsa-miR-557	CLIP-seq
MIRT1346147	hsa-miR-582-5p	CLIP-seq
MIRT1346148	hsa-miR-613	CLIP-seq
MIRT1346149	hsa-miR-632	CLIP-seq
MIRT1346150	hsa-miR-665	CLIP-seq
MIRT1346151	hsa-miR-708	CLIP-seq
MIRT1346152	hsa-miR-892a	CLIP-seq
MIRT1346153	hsa-miR-9	CLIP-seq
MIRT1346154	hsa-miR-93	CLIP-seq
MIRT1346155	hsa-miR-943	CLIP-seq
MIRT1346069	hsa-miR-101	CLIP-seq
MIRT1346070	hsa-miR-103b	CLIP-seq
MIRT1346156	hsa-miR-124	CLIP-seq
MIRT1346157	hsa-miR-1270	CLIP-seq
MIRT1346158	hsa-miR-1273e	CLIP-seq
MIRT1346159	hsa-miR-1273f	CLIP-seq
MIRT1346160	hsa-miR-1273g	CLIP-seq
MIRT1346161	hsa-miR-1299	CLIP-seq
MIRT1346076	hsa-miR-1301	CLIP-seq
MIRT1346162	hsa-miR-1303	CLIP-seq
MIRT1346077	hsa-miR-130a	CLIP-seq
MIRT1346078	hsa-miR-130b	CLIP-seq
MIRT1346163	hsa-miR-138	CLIP-seq
MIRT1346164	hsa-miR-140-3p	CLIP-seq
MIRT1346079	hsa-miR-144	CLIP-seq
MIRT1346165	hsa-miR-147	CLIP-seq
MIRT1346166	hsa-miR-1587	CLIP-seq
MIRT1346087	hsa-miR-2052	CLIP-seq
MIRT1346092	hsa-miR-300	CLIP-seq
MIRT1346093	hsa-miR-301a	CLIP-seq
MIRT1346094	hsa-miR-301b	CLIP-seq
MIRT1346095	hsa-miR-3120-3p	CLIP-seq
MIRT1346097	hsa-miR-3138	CLIP-seq
MIRT1346167	hsa-miR-3149	CLIP-seq
MIRT1346168	hsa-miR-3168	CLIP-seq
MIRT1346169	hsa-miR-3198	CLIP-seq
MIRT1346170	hsa-miR-320e	CLIP-seq
MIRT1346100	hsa-miR-338-5p	CLIP-seq
MIRT1346171	hsa-miR-3545-5p	CLIP-seq
MIRT1346172	hsa-miR-3622b-5p	CLIP-seq
MIRT1346173	hsa-miR-362-5p	CLIP-seq
MIRT1346174	hsa-miR-3650	CLIP-seq
MIRT1346102	hsa-miR-3666	CLIP-seq
MIRT1346175	hsa-miR-3677-5p	CLIP-seq
MIRT1346106	hsa-miR-376a	CLIP-seq
MIRT1346107	hsa-miR-376b	CLIP-seq
MIRT1346108	hsa-miR-381	CLIP-seq
MIRT1346176	hsa-miR-384	CLIP-seq
MIRT1346109	hsa-miR-3909	CLIP-seq
MIRT1346177	hsa-miR-3911	CLIP-seq
MIRT1346178	hsa-miR-3940-5p	CLIP-seq
MIRT1346112	hsa-miR-4264	CLIP-seq
MIRT1346113	hsa-miR-4277	CLIP-seq
MIRT1346115	hsa-miR-4295	CLIP-seq
MIRT1346179	hsa-miR-4305	CLIP-seq
MIRT1346180	hsa-miR-4309	CLIP-seq
MIRT1346181	hsa-miR-431	CLIP-seq
MIRT1346117	hsa-miR-4310	CLIP-seq
MIRT1346182	hsa-miR-432	CLIP-seq
MIRT1346183	hsa-miR-433	CLIP-seq
MIRT1346184	hsa-miR-4434	CLIP-seq
MIRT1346120	hsa-miR-4456	CLIP-seq
MIRT1346185	hsa-miR-4459	CLIP-seq
MIRT1346186	hsa-miR-4460	CLIP-seq
MIRT1346187	hsa-miR-4473	CLIP-seq
MIRT1346188	hsa-miR-4474-3p	CLIP-seq
MIRT1346189	hsa-miR-4474-5p	CLIP-seq
MIRT1346121	hsa-miR-4477b	CLIP-seq
MIRT1346190	hsa-miR-4492	CLIP-seq
MIRT1346191	hsa-miR-4495	CLIP-seq
MIRT1346192	hsa-miR-4498	CLIP-seq
MIRT1346193	hsa-miR-4507	CLIP-seq
MIRT1346194	hsa-miR-4516	CLIP-seq
MIRT1346195	hsa-miR-4527	CLIP-seq
MIRT1346196	hsa-miR-4531	CLIP-seq
MIRT1346125	hsa-miR-454	CLIP-seq
MIRT1346197	hsa-miR-4652-3p	CLIP-seq
MIRT1346198	hsa-miR-4654	CLIP-seq
MIRT1346199	hsa-miR-4656	CLIP-seq
MIRT1346127	hsa-miR-4659a-5p	CLIP-seq
MIRT1346128	hsa-miR-4659b-5p	CLIP-seq
MIRT1346200	hsa-miR-4663	CLIP-seq
MIRT1346130	hsa-miR-4666-3p	CLIP-seq
MIRT1346201	hsa-miR-4671-3p	CLIP-seq
MIRT1346202	hsa-miR-4675	CLIP-seq
MIRT1346203	hsa-miR-4727-3p	CLIP-seq
MIRT1346204	hsa-miR-4731-3p	CLIP-seq
MIRT1346205	hsa-miR-4738-3p	CLIP-seq
MIRT1346206	hsa-miR-4741	CLIP-seq
MIRT1346133	hsa-miR-4752	CLIP-seq
MIRT1346207	hsa-miR-4769-5p	CLIP-seq
MIRT1346208	hsa-miR-4775	CLIP-seq
MIRT1346135	hsa-miR-4776-3p	CLIP-seq
MIRT1346209	hsa-miR-4789-5p	CLIP-seq
MIRT1346210	hsa-miR-4796-3p	CLIP-seq
MIRT1346136	hsa-miR-4797-3p	CLIP-seq
MIRT1346137	hsa-miR-4800-5p	CLIP-seq
MIRT1346211	hsa-miR-4801	CLIP-seq
MIRT1346212	hsa-miR-490-5p	CLIP-seq
MIRT1346213	hsa-miR-500b	CLIP-seq
MIRT1346214	hsa-miR-501-5p	CLIP-seq
MIRT1346138	hsa-miR-5047	CLIP-seq
MIRT1346215	hsa-miR-506	CLIP-seq
MIRT1346216	hsa-miR-541	CLIP-seq
MIRT1346217	hsa-miR-548t	CLIP-seq
MIRT1346218	hsa-miR-568	CLIP-seq
MIRT1346219	hsa-miR-570	CLIP-seq
MIRT1346147	hsa-miR-582-5p	CLIP-seq
MIRT1346220	hsa-miR-584	CLIP-seq
MIRT1346221	hsa-miR-590-3p	CLIP-seq
MIRT1346222	hsa-miR-610	CLIP-seq
MIRT1346223	hsa-miR-620	CLIP-seq
MIRT1346224	hsa-miR-629	CLIP-seq
MIRT1346225	hsa-miR-644	CLIP-seq
MIRT1346226	hsa-miR-654-5p	CLIP-seq
MIRT1346227	hsa-miR-659	CLIP-seq
MIRT1346228	hsa-miR-7	CLIP-seq
MIRT1346229	hsa-miR-762	CLIP-seq
MIRT1346230	hsa-miR-875-3p	CLIP-seq
MIRT1346070	hsa-miR-103b	CLIP-seq
MIRT2102351	hsa-miR-1178	CLIP-seq
MIRT2102352	hsa-miR-1185	CLIP-seq
MIRT2102353	hsa-miR-1202	CLIP-seq
MIRT2102354	hsa-miR-1243	CLIP-seq
MIRT2102355	hsa-miR-1261	CLIP-seq
MIRT2102356	hsa-miR-1285	CLIP-seq
MIRT2102357	hsa-miR-132	CLIP-seq
MIRT2102358	hsa-miR-155	CLIP-seq
MIRT2102359	hsa-miR-194	CLIP-seq
MIRT2102360	hsa-miR-212	CLIP-seq
MIRT2102361	hsa-miR-214	CLIP-seq
MIRT2102362	hsa-miR-218	CLIP-seq
MIRT2102363	hsa-miR-23a	CLIP-seq
MIRT2102364	hsa-miR-23b	CLIP-seq
MIRT2102365	hsa-miR-23c	CLIP-seq
MIRT1346092	hsa-miR-300	CLIP-seq
MIRT1346095	hsa-miR-3120-3p	CLIP-seq
MIRT2102366	hsa-miR-3122	CLIP-seq
MIRT2102367	hsa-miR-3187-5p	CLIP-seq
MIRT1346100	hsa-miR-338-5p	CLIP-seq
MIRT2102368	hsa-miR-340	CLIP-seq
MIRT2102369	hsa-miR-3605-5p	CLIP-seq
MIRT2102370	hsa-miR-3619-5p	CLIP-seq
MIRT2102371	hsa-miR-3620	CLIP-seq
MIRT2102372	hsa-miR-3622a-3p	CLIP-seq
MIRT2102373	hsa-miR-3622b-3p	CLIP-seq
MIRT1346172	hsa-miR-3622b-5p	CLIP-seq
MIRT2102374	hsa-miR-3652	CLIP-seq
MIRT2102375	hsa-miR-3679-5p	CLIP-seq
MIRT1346104	hsa-miR-3689a-3p	CLIP-seq
MIRT2102376	hsa-miR-3689a-5p	CLIP-seq
MIRT2102377	hsa-miR-3689b	CLIP-seq
MIRT1346105	hsa-miR-3689c	CLIP-seq
MIRT2102378	hsa-miR-3689e	CLIP-seq
MIRT2102379	hsa-miR-3689f	CLIP-seq
MIRT1346106	hsa-miR-376a	CLIP-seq
MIRT1346107	hsa-miR-376b	CLIP-seq
MIRT2102380	hsa-miR-380	CLIP-seq
MIRT1346108	hsa-miR-381	CLIP-seq
MIRT1346109	hsa-miR-3909	CLIP-seq
MIRT2102381	hsa-miR-3913-5p	CLIP-seq
MIRT2102382	hsa-miR-3972	CLIP-seq
MIRT2102383	hsa-miR-3973	CLIP-seq
MIRT2102384	hsa-miR-3978	CLIP-seq
MIRT2102385	hsa-miR-411	CLIP-seq
MIRT2102386	hsa-miR-421	CLIP-seq
MIRT2102387	hsa-miR-4251	CLIP-seq
MIRT2102388	hsa-miR-4291	CLIP-seq
MIRT1346116	hsa-miR-4299	CLIP-seq
MIRT1346181	hsa-miR-431	CLIP-seq
MIRT2102389	hsa-miR-4317	CLIP-seq
MIRT2102390	hsa-miR-4329	CLIP-seq
MIRT2102391	hsa-miR-4430	CLIP-seq
MIRT1346120	hsa-miR-4456	CLIP-seq
MIRT2102392	hsa-miR-4464	CLIP-seq
MIRT1346188	hsa-miR-4474-3p	CLIP-seq
MIRT2102393	hsa-miR-4477a	CLIP-seq
MIRT1346121	hsa-miR-4477b	CLIP-seq
MIRT2102394	hsa-miR-4480	CLIP-seq
MIRT1346191	hsa-miR-4495	CLIP-seq
MIRT2102395	hsa-miR-4505	CLIP-seq
MIRT1346131	hsa-miR-4691-3p	CLIP-seq
MIRT2102396	hsa-miR-4704-3p	CLIP-seq
MIRT2102397	hsa-miR-4708-5p	CLIP-seq
MIRT2102398	hsa-miR-4709-5p	CLIP-seq
MIRT2102399	hsa-miR-4719	CLIP-seq
MIRT2102400	hsa-miR-4748	CLIP-seq
MIRT2102401	hsa-miR-4756-3p	CLIP-seq
MIRT1346208	hsa-miR-4775	CLIP-seq
MIRT2102402	hsa-miR-495	CLIP-seq
MIRT2102403	hsa-miR-520g	CLIP-seq
MIRT2102404	hsa-miR-520h	CLIP-seq
MIRT2102405	hsa-miR-539	CLIP-seq
MIRT2102406	hsa-miR-545	CLIP-seq
MIRT2102407	hsa-miR-548a-5p	CLIP-seq
MIRT2102408	hsa-miR-548ab	CLIP-seq
MIRT2102409	hsa-miR-548ak	CLIP-seq
MIRT2102410	hsa-miR-548b-5p	CLIP-seq
MIRT2102411	hsa-miR-548c-5p	CLIP-seq
MIRT2102412	hsa-miR-548d-5p	CLIP-seq
MIRT2102413	hsa-miR-548h	CLIP-seq
MIRT2102414	hsa-miR-548i	CLIP-seq
MIRT2102415	hsa-miR-548j	CLIP-seq
MIRT1346145	hsa-miR-548q	CLIP-seq
MIRT2102416	hsa-miR-548w	CLIP-seq
MIRT2102417	hsa-miR-548y	CLIP-seq
MIRT2102418	hsa-miR-559	CLIP-seq
MIRT1346221	hsa-miR-590-3p	CLIP-seq
MIRT2102419	hsa-miR-612	CLIP-seq
MIRT2102420	hsa-miR-616	CLIP-seq
MIRT2102421	hsa-miR-636	CLIP-seq
MIRT2102422	hsa-miR-647	CLIP-seq
MIRT2102423	hsa-miR-761	CLIP-seq
MIRT2102424	hsa-miR-889	CLIP-seq
MIRT1346152	hsa-miR-892a	CLIP-seq
MIRT2102425	hsa-miR-922	CLIP-seq
MIRT1346155	hsa-miR-943	CLIP-seq
MIRT1346069	hsa-miR-101	CLIP-seq
MIRT1346070	hsa-miR-103b	CLIP-seq
MIRT2326890	hsa-miR-105	CLIP-seq
MIRT1346071	hsa-miR-106a	CLIP-seq
MIRT1346072	hsa-miR-106b	CLIP-seq
MIRT2326891	hsa-miR-1183	CLIP-seq
MIRT2102353	hsa-miR-1202	CLIP-seq
MIRT1346074	hsa-miR-1225-5p	CLIP-seq
MIRT2102354	hsa-miR-1243	CLIP-seq
MIRT2326892	hsa-miR-1245b-3p	CLIP-seq
MIRT2102355	hsa-miR-1261	CLIP-seq
MIRT1346075	hsa-miR-1273d	CLIP-seq
MIRT1346158	hsa-miR-1273e	CLIP-seq
MIRT1346076	hsa-miR-1301	CLIP-seq
MIRT1346077	hsa-miR-130a	CLIP-seq
MIRT1346078	hsa-miR-130b	CLIP-seq
MIRT2102357	hsa-miR-132	CLIP-seq
MIRT2326893	hsa-miR-1324	CLIP-seq
MIRT2326894	hsa-miR-136	CLIP-seq
MIRT1346163	hsa-miR-138	CLIP-seq
MIRT1346079	hsa-miR-144	CLIP-seq
MIRT2326895	hsa-miR-148a	CLIP-seq
MIRT2326896	hsa-miR-148b	CLIP-seq
MIRT2326897	hsa-miR-152	CLIP-seq
MIRT2102358	hsa-miR-155	CLIP-seq
MIRT1346081	hsa-miR-17	CLIP-seq
MIRT1346082	hsa-miR-190	CLIP-seq
MIRT1346083	hsa-miR-190b	CLIP-seq
MIRT2102359	hsa-miR-194	CLIP-seq
MIRT2326898	hsa-miR-1973	CLIP-seq
MIRT1346085	hsa-miR-19a	CLIP-seq
MIRT1346086	hsa-miR-19b	CLIP-seq
MIRT2326899	hsa-miR-202	CLIP-seq
MIRT2326900	hsa-miR-205	CLIP-seq
MIRT1346087	hsa-miR-2052	CLIP-seq
MIRT1346089	hsa-miR-20a	CLIP-seq
MIRT1346090	hsa-miR-20b	CLIP-seq
MIRT2102360	hsa-miR-212	CLIP-seq
MIRT2326901	hsa-miR-224	CLIP-seq
MIRT2326902	hsa-miR-2276	CLIP-seq
MIRT2326903	hsa-miR-2355-3p	CLIP-seq
MIRT2102363	hsa-miR-23a	CLIP-seq
MIRT2102364	hsa-miR-23b	CLIP-seq
MIRT2102365	hsa-miR-23c	CLIP-seq
MIRT1346092	hsa-miR-300	CLIP-seq
MIRT1346093	hsa-miR-301a	CLIP-seq
MIRT1346094	hsa-miR-301b	CLIP-seq
MIRT2326904	hsa-miR-3064-5p	CLIP-seq
MIRT2326905	hsa-miR-3065-5p	CLIP-seq
MIRT1346095	hsa-miR-3120-3p	CLIP-seq
MIRT1346097	hsa-miR-3138	CLIP-seq
MIRT2326906	hsa-miR-3146	CLIP-seq
MIRT2326907	hsa-miR-3148	CLIP-seq
MIRT1346167	hsa-miR-3149	CLIP-seq
MIRT2326908	hsa-miR-3150b-3p	CLIP-seq
MIRT2326909	hsa-miR-3160-5p	CLIP-seq
MIRT2326910	hsa-miR-3175	CLIP-seq
MIRT2326911	hsa-miR-3185	CLIP-seq
MIRT2326912	hsa-miR-3187-3p	CLIP-seq
MIRT2326913	hsa-miR-3194-3p	CLIP-seq
MIRT2326914	hsa-miR-324-5p	CLIP-seq
MIRT1346100	hsa-miR-338-5p	CLIP-seq
MIRT2326915	hsa-miR-342-5p	CLIP-seq
MIRT1346101	hsa-miR-346	CLIP-seq
MIRT2326916	hsa-miR-3615	CLIP-seq
MIRT1346172	hsa-miR-3622b-5p	CLIP-seq
MIRT2326917	hsa-miR-3654	CLIP-seq
MIRT2326918	hsa-miR-3655	CLIP-seq
MIRT2326919	hsa-miR-3663-3p	CLIP-seq
MIRT2326920	hsa-miR-3665	CLIP-seq
MIRT1346102	hsa-miR-3666	CLIP-seq
MIRT1346103	hsa-miR-3673	CLIP-seq
MIRT2326921	hsa-miR-3682-5p	CLIP-seq
MIRT1346104	hsa-miR-3689a-3p	CLIP-seq
MIRT2102376	hsa-miR-3689a-5p	CLIP-seq
MIRT2102377	hsa-miR-3689b	CLIP-seq
MIRT1346105	hsa-miR-3689c	CLIP-seq
MIRT2102378	hsa-miR-3689e	CLIP-seq
MIRT2102379	hsa-miR-3689f	CLIP-seq
MIRT2326922	hsa-miR-3692	CLIP-seq
MIRT1346106	hsa-miR-376a	CLIP-seq
MIRT1346107	hsa-miR-376b	CLIP-seq
MIRT2326923	hsa-miR-376c	CLIP-seq
MIRT2102380	hsa-miR-380	CLIP-seq
MIRT1346108	hsa-miR-381	CLIP-seq
MIRT1346109	hsa-miR-3909	CLIP-seq
MIRT2326924	hsa-miR-3913-3p	CLIP-seq
MIRT2326925	hsa-miR-3917	CLIP-seq
MIRT2326926	hsa-miR-3921	CLIP-seq
MIRT1346178	hsa-miR-3940-5p	CLIP-seq
MIRT2326927	hsa-miR-3941	CLIP-seq
MIRT2326928	hsa-miR-3942-3p	CLIP-seq
MIRT2102382	hsa-miR-3972	CLIP-seq
MIRT2326929	hsa-miR-410	CLIP-seq
MIRT2102386	hsa-miR-421	CLIP-seq
MIRT2102387	hsa-miR-4251	CLIP-seq
MIRT2326930	hsa-miR-4254	CLIP-seq
MIRT2326931	hsa-miR-4257	CLIP-seq
MIRT1346114	hsa-miR-4288	CLIP-seq
MIRT2102388	hsa-miR-4291	CLIP-seq
MIRT1346115	hsa-miR-4295	CLIP-seq
MIRT2326932	hsa-miR-4327	CLIP-seq
MIRT2102390	hsa-miR-4329	CLIP-seq
MIRT1346119	hsa-miR-4421	CLIP-seq
MIRT2326933	hsa-miR-4435	CLIP-seq
MIRT1346120	hsa-miR-4456	CLIP-seq
MIRT1346185	hsa-miR-4459	CLIP-seq
MIRT1346187	hsa-miR-4473	CLIP-seq
MIRT1346121	hsa-miR-4477b	CLIP-seq
MIRT2102394	hsa-miR-4480	CLIP-seq
MIRT1346191	hsa-miR-4495	CLIP-seq
MIRT1346193	hsa-miR-4507	CLIP-seq
MIRT2326934	hsa-miR-452	CLIP-seq
MIRT1346125	hsa-miR-454	CLIP-seq
MIRT2326935	hsa-miR-4639-3p	CLIP-seq
MIRT2326936	hsa-miR-4642	CLIP-seq
MIRT2326937	hsa-miR-4653-5p	CLIP-seq
MIRT1346127	hsa-miR-4659a-5p	CLIP-seq
MIRT1346128	hsa-miR-4659b-5p	CLIP-seq
MIRT2326938	hsa-miR-466	CLIP-seq
MIRT1346129	hsa-miR-4660	CLIP-seq
MIRT2326939	hsa-miR-4661-3p	CLIP-seq
MIRT2326940	hsa-miR-4664-5p	CLIP-seq
MIRT1346201	hsa-miR-4671-3p	CLIP-seq
MIRT2326941	hsa-miR-4672	CLIP-seq
MIRT2326942	hsa-miR-4676-3p	CLIP-seq
MIRT2326943	hsa-miR-4686	CLIP-seq
MIRT2326944	hsa-miR-4694-3p	CLIP-seq
MIRT2326945	hsa-miR-4697-3p	CLIP-seq
MIRT1346132	hsa-miR-4700-3p	CLIP-seq
MIRT2326946	hsa-miR-4701-5p	CLIP-seq
MIRT2102396	hsa-miR-4704-3p	CLIP-seq
MIRT2326947	hsa-miR-4709-3p	CLIP-seq
MIRT2102398	hsa-miR-4709-5p	CLIP-seq
MIRT2326948	hsa-miR-4714-5p	CLIP-seq
MIRT2326949	hsa-miR-4716-3p	CLIP-seq
MIRT2326950	hsa-miR-4716-5p	CLIP-seq
MIRT2326951	hsa-miR-4717-5p	CLIP-seq
MIRT2326952	hsa-miR-4723-5p	CLIP-seq
MIRT1346204	hsa-miR-4731-3p	CLIP-seq
MIRT2326953	hsa-miR-4747-3p	CLIP-seq
MIRT1346133	hsa-miR-4752	CLIP-seq
MIRT2326954	hsa-miR-4760-3p	CLIP-seq
MIRT2326955	hsa-miR-4762-3p	CLIP-seq
MIRT1346134	hsa-miR-4768-3p	CLIP-seq
MIRT2326956	hsa-miR-4773	CLIP-seq
MIRT1346208	hsa-miR-4775	CLIP-seq
MIRT1346135	hsa-miR-4776-3p	CLIP-seq
MIRT2326957	hsa-miR-4778-3p	CLIP-seq
MIRT2326958	hsa-miR-4784	CLIP-seq
MIRT1346209	hsa-miR-4789-5p	CLIP-seq
MIRT1346136	hsa-miR-4797-3p	CLIP-seq
MIRT1346137	hsa-miR-4800-5p	CLIP-seq
MIRT1346211	hsa-miR-4801	CLIP-seq
MIRT2326959	hsa-miR-489	CLIP-seq
MIRT2102402	hsa-miR-495	CLIP-seq
MIRT1346138	hsa-miR-5047	CLIP-seq
MIRT1346140	hsa-miR-5095	CLIP-seq
MIRT2326960	hsa-miR-518d-5p	CLIP-seq
MIRT1346141	hsa-miR-519a	CLIP-seq
MIRT1346142	hsa-miR-519b-3p	CLIP-seq
MIRT2326961	hsa-miR-519b-5p	CLIP-seq
MIRT1346143	hsa-miR-519c-3p	CLIP-seq
MIRT2326962	hsa-miR-519c-5p	CLIP-seq
MIRT1346144	hsa-miR-519d	CLIP-seq
MIRT2326963	hsa-miR-520c-5p	CLIP-seq
MIRT2326964	hsa-miR-526a	CLIP-seq
MIRT2102406	hsa-miR-545	CLIP-seq
MIRT2102407	hsa-miR-548a-5p	CLIP-seq
MIRT2102408	hsa-miR-548ab	CLIP-seq
MIRT2102409	hsa-miR-548ak	CLIP-seq
MIRT2102410	hsa-miR-548b-5p	CLIP-seq
MIRT2102411	hsa-miR-548c-5p	CLIP-seq
MIRT2102412	hsa-miR-548d-5p	CLIP-seq
MIRT2102413	hsa-miR-548h	CLIP-seq
MIRT2102414	hsa-miR-548i	CLIP-seq
MIRT2102415	hsa-miR-548j	CLIP-seq
MIRT2326965	hsa-miR-548n	CLIP-seq
MIRT2326966	hsa-miR-548s	CLIP-seq
MIRT2102416	hsa-miR-548w	CLIP-seq
MIRT2102417	hsa-miR-548y	CLIP-seq
MIRT2102418	hsa-miR-559	CLIP-seq
MIRT2326967	hsa-miR-561	CLIP-seq
MIRT1346218	hsa-miR-568	CLIP-seq
MIRT2326968	hsa-miR-578	CLIP-seq
MIRT1346147	hsa-miR-582-5p	CLIP-seq
MIRT2326969	hsa-miR-588	CLIP-seq
MIRT1346221	hsa-miR-590-3p	CLIP-seq
MIRT1346224	hsa-miR-629	CLIP-seq
MIRT1346149	hsa-miR-632	CLIP-seq
MIRT2326970	hsa-miR-656	CLIP-seq
MIRT2326971	hsa-miR-657	CLIP-seq
MIRT1346227	hsa-miR-659	CLIP-seq
MIRT1346150	hsa-miR-665	CLIP-seq
MIRT2326972	hsa-miR-671-5p	CLIP-seq
MIRT2326973	hsa-miR-676	CLIP-seq
MIRT2326974	hsa-miR-758	CLIP-seq
MIRT2326975	hsa-miR-802	CLIP-seq
MIRT2102424	hsa-miR-889	CLIP-seq
MIRT1346153	hsa-miR-9	CLIP-seq
MIRT1346154	hsa-miR-93	CLIP-seq
MIRT2326976	hsa-miR-939	CLIP-seq
MIRT2326977	hsa-miR-941	CLIP-seq
MIRT2102399	hsa-miR-4719	CLIP-seq
MIRT2326954	hsa-miR-4760-3p	CLIP-seq
MIRT2102407	hsa-miR-548a-5p	CLIP-seq
MIRT2102408	hsa-miR-548ab	CLIP-seq
MIRT2102409	hsa-miR-548ak	CLIP-seq
MIRT2102410	hsa-miR-548b-5p	CLIP-seq
MIRT2102411	hsa-miR-548c-5p	CLIP-seq
MIRT2102412	hsa-miR-548d-5p	CLIP-seq
MIRT2102413	hsa-miR-548h	CLIP-seq
MIRT2102414	hsa-miR-548i	CLIP-seq
MIRT2102415	hsa-miR-548j	CLIP-seq
MIRT2440391	hsa-miR-548k	CLIP-seq
MIRT2440392	hsa-miR-548l	CLIP-seq
MIRT2102416	hsa-miR-548w	CLIP-seq
MIRT2102417	hsa-miR-548y	CLIP-seq
MIRT2102418	hsa-miR-559	CLIP-seq
MIRT2459301	hsa-miR-4267	CLIP-seq
MIRT2459302	hsa-miR-4707-3p	CLIP-seq
MIRT2326972	hsa-miR-671-5p	CLIP-seq
MIRT1346228	hsa-miR-7	CLIP-seq
MIRT1346100	hsa-miR-338-5p	CLIP-seq
MIRT1346204	hsa-miR-4731-3p	CLIP-seq
MIRT1346209	hsa-miR-4789-5p	CLIP-seq
MIRT1346211	hsa-miR-4801	CLIP-seq
MIRT2102351	hsa-miR-1178	CLIP-seq
MIRT2326913	hsa-miR-3194-3p	CLIP-seq
MIRT1346100	hsa-miR-338-5p	CLIP-seq
MIRT2102372	hsa-miR-3622a-3p	CLIP-seq
MIRT2102373	hsa-miR-3622b-3p	CLIP-seq
MIRT1346204	hsa-miR-4731-3p	CLIP-seq
MIRT1346209	hsa-miR-4789-5p	CLIP-seq
MIRT1346211	hsa-miR-4801	CLIP-seq

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	ISS
GO:0001917	Component	Photoreceptor inner segment	ISS
GO:0005515	Function	Protein binding	IPI	11583995, 17474147, 32296183, 32661924
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005883	Component	Neurofilament	ISS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0007416	Process	Synapse assembly	ISS	22699620
GO:0007612	Process	Learning	IMP	20473310
GO:0008284	Process	Positive regulation of cell population proliferation	IMP	32661924
GO:0008306	Process	Associative learning	IBA
GO:0014069	Component	Postsynaptic density	IBA
GO:0014069	Component	Postsynaptic density	IEA
GO:0014069	Component	Postsynaptic density	ISS
GO:0016020	Component	Membrane	IEA
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0017124	Function	SH3 domain binding	IEA
GO:0030160	Function	Synaptic receptor adaptor activity	IBA
GO:0030160	Function	Synaptic receptor adaptor activity	NAS	10506216
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030534	Process	Adult behavior	IEA
GO:0030534	Process	Adult behavior	IMP	20473310
GO:0031526	Component	Brush border membrane	ISS
GO:0035176	Process	Social behavior	IEA
GO:0035176	Process	Social behavior	IMP	20473310
GO:0035255	Function	Ionotropic glutamate receptor binding	IBA
GO:0035255	Function	Ionotropic glutamate receptor binding	ISS
GO:0035331	Process	Negative regulation of hippo signaling	IMP	32661924
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0043197	Component	Dendritic spine	IBA
GO:0043197	Component	Dendritic spine	IEA
GO:0043197	Component	Dendritic spine	ISS
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	ISS
GO:0050808	Process	Synapse organization	IBA
GO:0050890	Process	Cognition	IEA
GO:0060170	Component	Ciliary membrane	ISS
GO:0060291	Process	Long-term synaptic potentiation	ISS	22699620
GO:0060292	Process	Long-term synaptic depression	ISS	22699620
GO:0071625	Process	Vocalization behavior	IEA
GO:0071625	Process	Vocalization behavior	IMP	20473310

MIM	HGNC	e!Ensembl
603290	14295	ENSG00000162105

Q9UPX8

Protein name

SH3 and multiple ankyrin repeat domains protein 2 (Shank2) (Cortactin-binding protein 1) (CortBP1) (Proline-rich synapse-associated protein 1)

Protein function

Seems to be an adapter protein in the postsynaptic density (PSD) of excitatory synapses that interconnects receptors of the postsynaptic membrane including NMDA-type and metabotropic glutamate receptors, and the actin-based cytoskeleton. May pla

PDB

8ATJ , 8B10

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07653	SH3_2	151 → 204	Variant SH3 domain	Domain
PF17820	PDZ_6	285 → 339	PDZ domain	Domain
PF00536	SAM_1	1405 → 1468	SAM domain (Sterile alpha motif)	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 3 is present in epithelial colonic cells (at protein level). {ECO:0000269|PubMed:16293618, ECO:0000269|PubMed:17244609}.

Sequence

MKSLLNAFTKKEVPFREAPAYSNRRRRPPNTLAAPRVLLRSNSDNNLNASAPDWAVCSTA
TSHRSLSPQLLQQMPSKPEGAAKTIGSYVPGPRSRSPSLNRLGGAGEDGKRPQPLWHVGS
PFALGANKDSLSAFEYPGPKRKLYSAVPGRLFVAVKPYQPQVDGEIPLHRGDRVKVLSIG
EGGFWEGSARGHIGWFPAECVEEVQCKPRDSQAETRADRSKKLFRHYTVGSYDSFDTSSD
CIIEEKTVVLQKKDNEGFGFVLRGAKADTPIEEFTPTPAFPALQYLESVDEGGVAWQAGL
RTGDFLIEVNNENVVKVGHRQVVNMIRQGGNHLVLKVVTVTRNLDPDDTARKKAPPPPKR
APTTALTLRSKSMTSELEELVDKASVRKKKDKPEEIVPASKPSRAAENMAVEPRVATIKQ
RPSSRCFPAGSDMNSVYERQGIAVMTPTVPGSPKAPFLGIPRGTMRRQKSIDSRIFLSGI
TEEERQFLAPPMLKFTRSLSMPDTSEDIPPPPQSVPPSPPPPSPTTYNCPKSPTPRVYGT
IKPAFNQNSAAKVSPATRSDTVATMMREKGMYFRRELDRYSLDSEDLYSRNAGPQANFRN
KRGQMPENPYSEVGKIASKAVYVPAKPARRKGMLVKQSNVEDSPEKTCSIPIPTIIVKEP
STSSSGKSSQGSSMEIDPQAPEPPSQLRPDESLTVSSPFAAAIAGAVRDREKRLEARRNS
PAFLSTDLGDEDVGLGPPAPRTRPSMFPEEGDFADEDSAEQLSSPMPSATPREPENHFVG
GAEASAPGEAGRPLNSTSKAQGPESSPAVPSASSGTAGPGNYVHPLTGRLLDPSSPLALA
LSARDRAMKESQQGPKGEAPKADLNKPLYIDTKMRPSLDAGFPTVTRQNTRGPLRRQETE
NKYETDLGRDRKGDDKKNMLIDIMDTSQQKSAGLLMVHTVDATKLDNALQEEDEKAEVEM
KPDSSPSEVPEGVSETEGALQISAAPEPTTVPGRTIVAVGSMEEAVILPFRIPPPPLASV
DLDEDFIFTEPLPPPLEFANSFDIPDDRAASVPALSDLVKQKKSDTPQSPSLNSSQPTNS
ADSKKPASLSNCLPASFLPPPESFDAVADSGIEEVDSRSSSDHHLETTSTISTVSSISTL
SSEGGENVDTCTVYADGQAFMVDKPPVPPKPKMKPIIHKSNALYQDALVEEDVDSFVIPP
PAPPPPPGSAQPGMAKVLQPRTSKLWGDVTEIKSPILSGPKANVISELNSILQQMNREKL
AKPGEGLDSPMGAKSASLAPRSPEIMSTISGTRSTTVTFTVRPGTSQPITLQSRPPDYES
RTSGTRRAPSPVVSPTEMNKETLPAPLSAATASPSPALSDVFSLPSQPPSGDLFGLNPAG
RSRSPSPSILQQPISNKPFTTKPVHLWTKPDVADWLESLNLGEHKEAFMDNEIDGSHLPN
LQKEDLIDLGVTRVGHRMNIERALKQLLDR

Sequence length

1470

Interactions

View interactions

	KEGG		Reactome
	Glutamatergic synapse		Neurexins and neuroligins

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)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs2134275196, rs1565527302	RCV001825309 RCV000754680	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism, susceptibility to, 17	Likely pathogenic; Pathogenic	rs2058899044, rs2134275180, rs2135739220, rs2135822551, rs1555094999, rs2503513136, rs2499554758, rs2495469105, rs1555013332, rs2495749734, rs2495592820, rs2495470269, rs2135751909	RCV001532873 RCV001528114 RCV001533143 RCV001775357 RCV004796718 View all (8 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Pathogenic	rs2058786429	RCV002272793	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs2058899044	RCV001328494	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs1555094999	RCV002273236	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare disease with autism	Likely pathogenic; Pathogenic	rs2134275196, rs2495465726	RCV002287509 RCV002287589	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	Source	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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism	Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER, MOST RECENT EPISODE MANIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex neurodevelopmental disorder	Benign; Likely benign	ClinVar ClinGen, GWAS catalog	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEPRESSION, BIPOLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EOSINOPHILIC ESOPHAGITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED BIPOLAR I DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUCOCUTANEOUS LYMPH NODE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROPHARYNX CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SARCOIDOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	not provided	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHANK2-related Complex neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHANK2-related disorder	Likely benign; not provided; Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONSIL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
22q13.3 Deletion Syndrome	22q13.3 deletion syndrome	BEFREE	23650259		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	37302762	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis	Amyloidosis	BEFREE	29297151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anorexia	Anorexia	Pubtator	29991577	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	28500650, 28963042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	28500650, 28963042		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	22346768, 22503632, 26485544, 29934968, 29991577, 30763456, 30911184, 32796005, 33483523, 34356069, 35456494	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	20473310, 21994763, 22228009, 22346768, 22503632, 23350639, 23468870, 23536326, 23583105, 23650259, 24124131, 24726578, 25007851, 25131214, 25188300 View all (23 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders	Autism Spectrum Disorder	CLINVAR_DG	30763456		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	20473310, 20531469		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	20502490, 22346768, 25188300, 30058071		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	20531469, 22346768, 27897003, 29991577, 35042901	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	30505269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	30505269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22761904, 32796005	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31698564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36231770	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36231770	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depression, Bipolar	Bipolar Disorder	CTD_human_DG	31043756		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	33483523, 35456494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	20473310, 21994763, 22346768, 22495306, 22699620, 24267886, 25106414, 25188300, 25560758, 27001614, 27903723, 28326932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	18405350, 22761904, 32252688	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35456975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	GWASDB_DG	19578367		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35456975	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	35456494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	25188300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	20473310, 20502490, 21994763, 22503632, 23350639, 25131214, 26338675, 27544825, 29665782		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	20473310		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	22503632, 33483523, 35042901, 35456494	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Language Development Disorders	Language development disorders	Pubtator	35456494	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Language Disorders	Language Disorders	BEFREE	23350639		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	30718901		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Manic	Manic Disorder	BEFREE	29046483		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Manic Disorder	Manic Disorder	CTD_human_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	20473310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	29572432, 29628500, 29970987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	20473310, 20502490		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild Mental Retardation	Mental retardation	BEFREE	25188300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	12065602		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	32796005	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	33915956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	25560758, 29665782		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON RARE IN EUROPE: Autism	Autism	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	20473310, 21994763, 23468870, 28179641, 29934968, 30629339, 30911184		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	20473310		★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	BEFREE	25188300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25864488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	22457763	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	21901269, 25560758, 26338675, 27001614, 29665782, 30505269		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Severe intellectual disability	Mental retardation	BEFREE	24124131		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16235239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	22761904		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	28939077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SHANK2 (SH3 and multiple ankyrin repeat domains 2)