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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6711
Gene name	Spectrin beta, non-erythrocytic 1
Gene symbol	SPTBN1
Synonyms (NCBI Gene)	DDISBAELFHEL102SPTB2betaSpII
Chromosome	2
Chromosome location	2p16.2
Summary	Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is compo

561

Show/Hide all (561)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021336	hsa-miR-9-5p	Microarray	17612493
MIRT024854	hsa-miR-215-5p	Microarray	19074876
MIRT025300	hsa-miR-34a-5p	Proteomics	21566225
MIRT025300	hsa-miR-34a-5p	Proteomics	21566225
MIRT026166	hsa-miR-192-5p	Microarray	19074876
MIRT027962	hsa-miR-93-5p	Sequencing	20371350
MIRT052584	hsa-let-7a-5p	CLASH	23622248
MIRT051442	hsa-let-7e-5p	CLASH	23622248
MIRT050120	hsa-miR-26a-5p	CLASH	23622248
MIRT044864	hsa-miR-195-5p	CLASH	23622248
MIRT043543	hsa-miR-331-3p	CLASH	23622248
MIRT042558	hsa-miR-423-3p	CLASH	23622248
MIRT041403	hsa-miR-193b-3p	CLASH	23622248
MIRT041403	hsa-miR-193b-3p	CLASH	23622248
MIRT040504	hsa-miR-589-3p	CLASH	23622248
MIRT040242	hsa-miR-615-3p	CLASH	23622248
MIRT035983	hsa-miR-1301-3p	CLASH	23622248
MIRT731094	hsa-miR-145-5p	Luciferase reporter assay	25354783
MIRT731094	hsa-miR-145-5p	Luciferase reporter assay	25354783
MIRT1386736	hsa-miR-103b	CLIP-seq
MIRT1386737	hsa-miR-106a	CLIP-seq
MIRT1386738	hsa-miR-106b	CLIP-seq
MIRT1386739	hsa-miR-1224-5p	CLIP-seq
MIRT1386740	hsa-miR-1237	CLIP-seq
MIRT1386741	hsa-miR-1248	CLIP-seq
MIRT1386742	hsa-miR-1252	CLIP-seq
MIRT1386743	hsa-miR-1263	CLIP-seq
MIRT1386744	hsa-miR-1270	CLIP-seq
MIRT1386745	hsa-miR-127-5p	CLIP-seq
MIRT1386746	hsa-miR-128	CLIP-seq
MIRT1386747	hsa-miR-1287	CLIP-seq
MIRT1386748	hsa-miR-1298	CLIP-seq
MIRT1386749	hsa-miR-142-5p	CLIP-seq
MIRT1386750	hsa-miR-144	CLIP-seq
MIRT1386751	hsa-miR-147b	CLIP-seq
MIRT1386752	hsa-miR-153	CLIP-seq
MIRT1386753	hsa-miR-17	CLIP-seq
MIRT1386754	hsa-miR-183	CLIP-seq
MIRT1386755	hsa-miR-185	CLIP-seq
MIRT1386756	hsa-miR-193a-5p	CLIP-seq
MIRT1386757	hsa-miR-1972	CLIP-seq
MIRT1386758	hsa-miR-198	CLIP-seq
MIRT1386759	hsa-miR-20a	CLIP-seq
MIRT1386760	hsa-miR-20b	CLIP-seq
MIRT1386761	hsa-miR-219-5p	CLIP-seq
MIRT1386762	hsa-miR-2355-3p	CLIP-seq
MIRT1386763	hsa-miR-28-3p	CLIP-seq
MIRT1386764	hsa-miR-298	CLIP-seq
MIRT1386765	hsa-miR-29a	CLIP-seq
MIRT1386766	hsa-miR-29b	CLIP-seq
MIRT1386767	hsa-miR-29c	CLIP-seq
MIRT1386768	hsa-miR-3123	CLIP-seq
MIRT1386769	hsa-miR-3126-3p	CLIP-seq
MIRT1386770	hsa-miR-3130-3p	CLIP-seq
MIRT1386771	hsa-miR-3135b	CLIP-seq
MIRT1386772	hsa-miR-3136-5p	CLIP-seq
MIRT1386773	hsa-miR-3143	CLIP-seq
MIRT1386774	hsa-miR-3152-3p	CLIP-seq
MIRT1386775	hsa-miR-3152-5p	CLIP-seq
MIRT1386776	hsa-miR-3154	CLIP-seq
MIRT1386777	hsa-miR-3155	CLIP-seq
MIRT1386778	hsa-miR-3155b	CLIP-seq
MIRT1386779	hsa-miR-3176	CLIP-seq
MIRT1386780	hsa-miR-3182	CLIP-seq
MIRT1386781	hsa-miR-323-3p	CLIP-seq
MIRT1386782	hsa-miR-335	CLIP-seq
MIRT1386783	hsa-miR-337-3p	CLIP-seq
MIRT1386784	hsa-miR-338-5p	CLIP-seq
MIRT1386785	hsa-miR-339-5p	CLIP-seq
MIRT1386786	hsa-miR-3609	CLIP-seq
MIRT1386787	hsa-miR-3613-3p	CLIP-seq
MIRT1386788	hsa-miR-361-3p	CLIP-seq
MIRT1386789	hsa-miR-3622a-5p	CLIP-seq
MIRT1386790	hsa-miR-3646	CLIP-seq
MIRT1386791	hsa-miR-3647-3p	CLIP-seq
MIRT1386792	hsa-miR-3650	CLIP-seq
MIRT1386793	hsa-miR-3663-3p	CLIP-seq
MIRT1386794	hsa-miR-3671	CLIP-seq
MIRT1386795	hsa-miR-3679-3p	CLIP-seq
MIRT1386796	hsa-miR-3689d	CLIP-seq
MIRT1386797	hsa-miR-371-5p	CLIP-seq
MIRT1386798	hsa-miR-371b-5p	CLIP-seq
MIRT1386799	hsa-miR-3915	CLIP-seq
MIRT1386800	hsa-miR-3919	CLIP-seq
MIRT1386801	hsa-miR-3922-3p	CLIP-seq
MIRT1386802	hsa-miR-3924	CLIP-seq
MIRT1386803	hsa-miR-3928	CLIP-seq
MIRT1386804	hsa-miR-3944-5p	CLIP-seq
MIRT1386805	hsa-miR-3977	CLIP-seq
MIRT1386806	hsa-miR-410	CLIP-seq
MIRT1386807	hsa-miR-4256	CLIP-seq
MIRT1386808	hsa-miR-4263	CLIP-seq
MIRT1386809	hsa-miR-4268	CLIP-seq
MIRT1386810	hsa-miR-4274	CLIP-seq
MIRT1386811	hsa-miR-4277	CLIP-seq
MIRT1386812	hsa-miR-4282	CLIP-seq
MIRT1386813	hsa-miR-4291	CLIP-seq
MIRT1386814	hsa-miR-4297	CLIP-seq
MIRT1386815	hsa-miR-4299	CLIP-seq
MIRT1386816	hsa-miR-4303	CLIP-seq
MIRT1386817	hsa-miR-4306	CLIP-seq
MIRT1386818	hsa-miR-4310	CLIP-seq
MIRT1386819	hsa-miR-4312	CLIP-seq
MIRT1386820	hsa-miR-432	CLIP-seq
MIRT1386821	hsa-miR-4327	CLIP-seq
MIRT1386822	hsa-miR-4328	CLIP-seq
MIRT1386823	hsa-miR-4420	CLIP-seq
MIRT1386824	hsa-miR-4422	CLIP-seq
MIRT1386825	hsa-miR-4423-3p	CLIP-seq
MIRT1386826	hsa-miR-4426	CLIP-seq
MIRT1386827	hsa-miR-4436b-3p	CLIP-seq
MIRT1386828	hsa-miR-4439	CLIP-seq
MIRT1386829	hsa-miR-4440	CLIP-seq
MIRT1386830	hsa-miR-4445	CLIP-seq
MIRT1386831	hsa-miR-4456	CLIP-seq
MIRT1386832	hsa-miR-4459	CLIP-seq
MIRT1386833	hsa-miR-448	CLIP-seq
MIRT1386834	hsa-miR-4503	CLIP-seq
MIRT1386835	hsa-miR-451	CLIP-seq
MIRT1386836	hsa-miR-4519	CLIP-seq
MIRT1386837	hsa-miR-451b	CLIP-seq
MIRT1386838	hsa-miR-4531	CLIP-seq
MIRT1386839	hsa-miR-4635	CLIP-seq
MIRT1386840	hsa-miR-4644	CLIP-seq
MIRT1386841	hsa-miR-4646-3p	CLIP-seq
MIRT1386842	hsa-miR-4647	CLIP-seq
MIRT1386843	hsa-miR-4650-5p	CLIP-seq
MIRT1386844	hsa-miR-4653-3p	CLIP-seq
MIRT1386845	hsa-miR-4662b	CLIP-seq
MIRT1386846	hsa-miR-4668-3p	CLIP-seq
MIRT1386847	hsa-miR-4670-5p	CLIP-seq
MIRT1386848	hsa-miR-4683	CLIP-seq
MIRT1386849	hsa-miR-4689	CLIP-seq
MIRT1386850	hsa-miR-4694-3p	CLIP-seq
MIRT1386851	hsa-miR-4710	CLIP-seq
MIRT1386852	hsa-miR-4712-5p	CLIP-seq
MIRT1386853	hsa-miR-4719	CLIP-seq
MIRT1386854	hsa-miR-4722-5p	CLIP-seq
MIRT1386855	hsa-miR-4733-3p	CLIP-seq
MIRT1386856	hsa-miR-4761-3p	CLIP-seq
MIRT1386857	hsa-miR-4774-3p	CLIP-seq
MIRT1386858	hsa-miR-4782-3p	CLIP-seq
MIRT1386859	hsa-miR-4789-5p	CLIP-seq
MIRT1386860	hsa-miR-4790-3p	CLIP-seq
MIRT1386861	hsa-miR-4792	CLIP-seq
MIRT1386862	hsa-miR-4793-3p	CLIP-seq
MIRT1386863	hsa-miR-4795-3p	CLIP-seq
MIRT1386864	hsa-miR-4796-3p	CLIP-seq
MIRT1386865	hsa-miR-484	CLIP-seq
MIRT1386866	hsa-miR-508-3p	CLIP-seq
MIRT1386867	hsa-miR-516b	CLIP-seq
MIRT1386868	hsa-miR-519d	CLIP-seq
MIRT1386869	hsa-miR-522	CLIP-seq
MIRT1386870	hsa-miR-539	CLIP-seq
MIRT1386871	hsa-miR-542-3p	CLIP-seq
MIRT1386872	hsa-miR-543	CLIP-seq
MIRT1386873	hsa-miR-545	CLIP-seq
MIRT1386874	hsa-miR-548ag	CLIP-seq
MIRT1386875	hsa-miR-548ah	CLIP-seq
MIRT1386876	hsa-miR-548ai	CLIP-seq
MIRT1386877	hsa-miR-548c-3p	CLIP-seq
MIRT1386878	hsa-miR-548m	CLIP-seq
MIRT1386879	hsa-miR-548p	CLIP-seq
MIRT1386880	hsa-miR-548q	CLIP-seq
MIRT1386881	hsa-miR-568	CLIP-seq
MIRT1386882	hsa-miR-577	CLIP-seq
MIRT1386883	hsa-miR-578	CLIP-seq
MIRT1386884	hsa-miR-582-5p	CLIP-seq
MIRT1386885	hsa-miR-615-5p	CLIP-seq
MIRT1386886	hsa-miR-616	CLIP-seq
MIRT1386887	hsa-miR-620	CLIP-seq
MIRT1386888	hsa-miR-629	CLIP-seq
MIRT1386889	hsa-miR-642a	CLIP-seq
MIRT1386890	hsa-miR-643	CLIP-seq
MIRT1386891	hsa-miR-659	CLIP-seq
MIRT1386892	hsa-miR-770-5p	CLIP-seq
MIRT1386893	hsa-miR-802	CLIP-seq
MIRT1386894	hsa-miR-890	CLIP-seq
MIRT1386895	hsa-miR-93	CLIP-seq
MIRT1386896	hsa-miR-943	CLIP-seq
MIRT1386897	hsa-miR-101	CLIP-seq
MIRT1386898	hsa-miR-1278	CLIP-seq
MIRT1386899	hsa-miR-146b-3p	CLIP-seq
MIRT1386900	hsa-miR-3173-5p	CLIP-seq
MIRT1386797	hsa-miR-371-5p	CLIP-seq
MIRT1386901	hsa-miR-384	CLIP-seq
MIRT1386902	hsa-miR-4318	CLIP-seq
MIRT1386903	hsa-miR-4693-5p	CLIP-seq
MIRT1386904	hsa-miR-633	CLIP-seq
MIRT1386905	hsa-miR-874	CLIP-seq
MIRT1386906	hsa-miR-888	CLIP-seq
MIRT1386907	hsa-miR-892a	CLIP-seq
MIRT1386908	hsa-miR-935	CLIP-seq
MIRT1386787	hsa-miR-3613-3p	CLIP-seq
MIRT1386737	hsa-miR-106a	CLIP-seq
MIRT1386738	hsa-miR-106b	CLIP-seq
MIRT1386748	hsa-miR-1298	CLIP-seq
MIRT1386749	hsa-miR-142-5p	CLIP-seq
MIRT1386753	hsa-miR-17	CLIP-seq
MIRT1386757	hsa-miR-1972	CLIP-seq
MIRT2115776	hsa-miR-203	CLIP-seq
MIRT1386759	hsa-miR-20a	CLIP-seq
MIRT1386760	hsa-miR-20b	CLIP-seq
MIRT1386765	hsa-miR-29a	CLIP-seq
MIRT1386766	hsa-miR-29b	CLIP-seq
MIRT1386767	hsa-miR-29c	CLIP-seq
MIRT1386776	hsa-miR-3154	CLIP-seq
MIRT1386785	hsa-miR-339-5p	CLIP-seq
MIRT1386786	hsa-miR-3609	CLIP-seq
MIRT1386788	hsa-miR-361-3p	CLIP-seq
MIRT1386792	hsa-miR-3650	CLIP-seq
MIRT1386793	hsa-miR-3663-3p	CLIP-seq
MIRT1386795	hsa-miR-3679-3p	CLIP-seq
MIRT1386805	hsa-miR-3977	CLIP-seq
MIRT1386811	hsa-miR-4277	CLIP-seq
MIRT1386823	hsa-miR-4420	CLIP-seq
MIRT2115777	hsa-miR-4517	CLIP-seq
MIRT1386843	hsa-miR-4650-5p	CLIP-seq
MIRT1386844	hsa-miR-4653-3p	CLIP-seq
MIRT1386847	hsa-miR-4670-5p	CLIP-seq
MIRT1386855	hsa-miR-4733-3p	CLIP-seq
MIRT1386859	hsa-miR-4789-5p	CLIP-seq
MIRT1386863	hsa-miR-4795-3p	CLIP-seq
MIRT1386864	hsa-miR-4796-3p	CLIP-seq
MIRT1386867	hsa-miR-516b	CLIP-seq
MIRT1386868	hsa-miR-519d	CLIP-seq
MIRT1386869	hsa-miR-522	CLIP-seq
MIRT1386874	hsa-miR-548ag	CLIP-seq
MIRT1386875	hsa-miR-548ah	CLIP-seq
MIRT1386876	hsa-miR-548ai	CLIP-seq
MIRT1386877	hsa-miR-548c-3p	CLIP-seq
MIRT1386878	hsa-miR-548m	CLIP-seq
MIRT1386882	hsa-miR-577	CLIP-seq
MIRT1386886	hsa-miR-616	CLIP-seq
MIRT1386888	hsa-miR-629	CLIP-seq
MIRT1386895	hsa-miR-93	CLIP-seq
MIRT1386736	hsa-miR-103b	CLIP-seq
MIRT1386740	hsa-miR-1237	CLIP-seq
MIRT2338370	hsa-miR-1243	CLIP-seq
MIRT1386741	hsa-miR-1248	CLIP-seq
MIRT2338371	hsa-miR-1273d	CLIP-seq
MIRT1386747	hsa-miR-1287	CLIP-seq
MIRT1386748	hsa-miR-1298	CLIP-seq
MIRT1386755	hsa-miR-185	CLIP-seq
MIRT2338372	hsa-miR-3121-3p	CLIP-seq
MIRT1386768	hsa-miR-3123	CLIP-seq
MIRT1386769	hsa-miR-3126-3p	CLIP-seq
MIRT1386770	hsa-miR-3130-3p	CLIP-seq
MIRT1386771	hsa-miR-3135b	CLIP-seq
MIRT1386779	hsa-miR-3176	CLIP-seq
MIRT1386783	hsa-miR-337-3p	CLIP-seq
MIRT1386787	hsa-miR-3613-3p	CLIP-seq
MIRT2338373	hsa-miR-3614-5p	CLIP-seq
MIRT2338374	hsa-miR-3654	CLIP-seq
MIRT1386793	hsa-miR-3663-3p	CLIP-seq
MIRT1386797	hsa-miR-371-5p	CLIP-seq
MIRT1386801	hsa-miR-3922-3p	CLIP-seq
MIRT1386805	hsa-miR-3977	CLIP-seq
MIRT1386808	hsa-miR-4263	CLIP-seq
MIRT1386810	hsa-miR-4274	CLIP-seq
MIRT1386811	hsa-miR-4277	CLIP-seq
MIRT1386814	hsa-miR-4297	CLIP-seq
MIRT1386816	hsa-miR-4303	CLIP-seq
MIRT1386817	hsa-miR-4306	CLIP-seq
MIRT1386821	hsa-miR-4327	CLIP-seq
MIRT1386823	hsa-miR-4420	CLIP-seq
MIRT1386835	hsa-miR-451	CLIP-seq
MIRT1386836	hsa-miR-4519	CLIP-seq
MIRT1386840	hsa-miR-4644	CLIP-seq
MIRT1386844	hsa-miR-4653-3p	CLIP-seq
MIRT1386850	hsa-miR-4694-3p	CLIP-seq
MIRT1386860	hsa-miR-4790-3p	CLIP-seq
MIRT1386862	hsa-miR-4793-3p	CLIP-seq
MIRT1386867	hsa-miR-516b	CLIP-seq
MIRT1386869	hsa-miR-522	CLIP-seq
MIRT1386877	hsa-miR-548c-3p	CLIP-seq
MIRT2338375	hsa-miR-548l	CLIP-seq
MIRT2338376	hsa-miR-552	CLIP-seq
MIRT1386883	hsa-miR-578	CLIP-seq
MIRT1386886	hsa-miR-616	CLIP-seq
MIRT1386889	hsa-miR-642a	CLIP-seq
MIRT1386890	hsa-miR-643	CLIP-seq
MIRT1386891	hsa-miR-659	CLIP-seq
MIRT2338377	hsa-miR-668	CLIP-seq
MIRT1386747	hsa-miR-1287	CLIP-seq
MIRT1386758	hsa-miR-198	CLIP-seq
MIRT2395133	hsa-miR-204	CLIP-seq
MIRT2395134	hsa-miR-211	CLIP-seq
MIRT1386762	hsa-miR-2355-3p	CLIP-seq
MIRT1386771	hsa-miR-3135b	CLIP-seq
MIRT1386773	hsa-miR-3143	CLIP-seq
MIRT1386781	hsa-miR-323-3p	CLIP-seq
MIRT1386805	hsa-miR-3977	CLIP-seq
MIRT1386811	hsa-miR-4277	CLIP-seq
MIRT1386816	hsa-miR-4303	CLIP-seq
MIRT1386902	hsa-miR-4318	CLIP-seq
MIRT1386821	hsa-miR-4327	CLIP-seq
MIRT1386823	hsa-miR-4420	CLIP-seq
MIRT2395135	hsa-miR-4491	CLIP-seq
MIRT1386837	hsa-miR-451b	CLIP-seq
MIRT2395136	hsa-miR-4633-3p	CLIP-seq
MIRT1386841	hsa-miR-4646-3p	CLIP-seq
MIRT1386844	hsa-miR-4653-3p	CLIP-seq
MIRT2395137	hsa-miR-4657	CLIP-seq
MIRT1386852	hsa-miR-4712-5p	CLIP-seq
MIRT1386862	hsa-miR-4793-3p	CLIP-seq
MIRT1386867	hsa-miR-516b	CLIP-seq
MIRT1386872	hsa-miR-543	CLIP-seq
MIRT2395138	hsa-miR-558	CLIP-seq
MIRT1386883	hsa-miR-578	CLIP-seq
MIRT1386891	hsa-miR-659	CLIP-seq
MIRT1386892	hsa-miR-770-5p	CLIP-seq
MIRT1386893	hsa-miR-802	CLIP-seq
MIRT1386758	hsa-miR-198	CLIP-seq
MIRT1386762	hsa-miR-2355-3p	CLIP-seq
MIRT1386805	hsa-miR-3977	CLIP-seq
MIRT1386811	hsa-miR-4277	CLIP-seq
MIRT1386841	hsa-miR-4646-3p	CLIP-seq
MIRT1386852	hsa-miR-4712-5p	CLIP-seq
MIRT1386892	hsa-miR-770-5p	CLIP-seq
MIRT1386765	hsa-miR-29a	CLIP-seq
MIRT1386766	hsa-miR-29b	CLIP-seq
MIRT1386767	hsa-miR-29c	CLIP-seq
MIRT1386785	hsa-miR-339-5p	CLIP-seq
MIRT1386793	hsa-miR-3663-3p	CLIP-seq
MIRT1386794	hsa-miR-3671	CLIP-seq
MIRT1386802	hsa-miR-3924	CLIP-seq
MIRT1386837	hsa-miR-451b	CLIP-seq
MIRT1386843	hsa-miR-4650-5p	CLIP-seq
MIRT1386847	hsa-miR-4670-5p	CLIP-seq
MIRT1386855	hsa-miR-4733-3p	CLIP-seq
MIRT1386870	hsa-miR-539	CLIP-seq
MIRT1386768	hsa-miR-3123	CLIP-seq
MIRT2442702	hsa-miR-361-5p	CLIP-seq
MIRT2442703	hsa-miR-3692	CLIP-seq
MIRT1386800	hsa-miR-3919	CLIP-seq
MIRT2442704	hsa-miR-4756-3p	CLIP-seq
MIRT2631926	hsa-miR-103a	CLIP-seq
MIRT1386736	hsa-miR-103b	CLIP-seq
MIRT1386737	hsa-miR-106a	CLIP-seq
MIRT1386738	hsa-miR-106b	CLIP-seq
MIRT2631927	hsa-miR-107	CLIP-seq
MIRT2631928	hsa-miR-1184	CLIP-seq
MIRT1386744	hsa-miR-1270	CLIP-seq
MIRT1386746	hsa-miR-128	CLIP-seq
MIRT1386748	hsa-miR-1298	CLIP-seq
MIRT2631929	hsa-miR-133a	CLIP-seq
MIRT2631930	hsa-miR-133b	CLIP-seq
MIRT1386749	hsa-miR-142-5p	CLIP-seq
MIRT1386753	hsa-miR-17	CLIP-seq
MIRT1386757	hsa-miR-1972	CLIP-seq
MIRT1386758	hsa-miR-198	CLIP-seq
MIRT1386759	hsa-miR-20a	CLIP-seq
MIRT1386760	hsa-miR-20b	CLIP-seq
MIRT1386761	hsa-miR-219-5p	CLIP-seq
MIRT1386762	hsa-miR-2355-3p	CLIP-seq
MIRT1386764	hsa-miR-298	CLIP-seq
MIRT1386765	hsa-miR-29a	CLIP-seq
MIRT1386766	hsa-miR-29b	CLIP-seq
MIRT1386767	hsa-miR-29c	CLIP-seq
MIRT1386769	hsa-miR-3126-3p	CLIP-seq
MIRT1386770	hsa-miR-3130-3p	CLIP-seq
MIRT2631931	hsa-miR-3137	CLIP-seq
MIRT1386773	hsa-miR-3143	CLIP-seq
MIRT1386774	hsa-miR-3152-3p	CLIP-seq
MIRT1386779	hsa-miR-3176	CLIP-seq
MIRT2631932	hsa-miR-3189-5p	CLIP-seq
MIRT1386781	hsa-miR-323-3p	CLIP-seq
MIRT1386782	hsa-miR-335	CLIP-seq
MIRT1386783	hsa-miR-337-3p	CLIP-seq
MIRT1386784	hsa-miR-338-5p	CLIP-seq
MIRT1386785	hsa-miR-339-5p	CLIP-seq
MIRT1386786	hsa-miR-3609	CLIP-seq
MIRT1386788	hsa-miR-361-3p	CLIP-seq
MIRT1386790	hsa-miR-3646	CLIP-seq
MIRT1386791	hsa-miR-3647-3p	CLIP-seq
MIRT1386792	hsa-miR-3650	CLIP-seq
MIRT1386793	hsa-miR-3663-3p	CLIP-seq
MIRT1386794	hsa-miR-3671	CLIP-seq
MIRT1386795	hsa-miR-3679-3p	CLIP-seq
MIRT2631933	hsa-miR-3688-5p	CLIP-seq
MIRT1386797	hsa-miR-371-5p	CLIP-seq
MIRT1386800	hsa-miR-3919	CLIP-seq
MIRT1386801	hsa-miR-3922-3p	CLIP-seq
MIRT1386802	hsa-miR-3924	CLIP-seq
MIRT2631934	hsa-miR-3943	CLIP-seq
MIRT1386804	hsa-miR-3944-5p	CLIP-seq
MIRT1386805	hsa-miR-3977	CLIP-seq
MIRT1386806	hsa-miR-410	CLIP-seq
MIRT1386808	hsa-miR-4263	CLIP-seq
MIRT1386810	hsa-miR-4274	CLIP-seq
MIRT1386811	hsa-miR-4277	CLIP-seq
MIRT1386812	hsa-miR-4282	CLIP-seq
MIRT1386814	hsa-miR-4297	CLIP-seq
MIRT2631935	hsa-miR-4302	CLIP-seq
MIRT1386902	hsa-miR-4318	CLIP-seq
MIRT1386820	hsa-miR-432	CLIP-seq
MIRT2631936	hsa-miR-4323	CLIP-seq
MIRT2631937	hsa-miR-4424	CLIP-seq
MIRT1386826	hsa-miR-4426	CLIP-seq
MIRT1386827	hsa-miR-4436b-3p	CLIP-seq
MIRT1386829	hsa-miR-4440	CLIP-seq
MIRT1386830	hsa-miR-4445	CLIP-seq
MIRT2631938	hsa-miR-4474-3p	CLIP-seq
MIRT2395135	hsa-miR-4491	CLIP-seq
MIRT1386835	hsa-miR-451	CLIP-seq
MIRT2115777	hsa-miR-4517	CLIP-seq
MIRT1386836	hsa-miR-4519	CLIP-seq
MIRT1386837	hsa-miR-451b	CLIP-seq
MIRT2631939	hsa-miR-4527	CLIP-seq
MIRT1386838	hsa-miR-4531	CLIP-seq
MIRT2395136	hsa-miR-4633-3p	CLIP-seq
MIRT1386841	hsa-miR-4646-3p	CLIP-seq
MIRT1386842	hsa-miR-4647	CLIP-seq
MIRT1386843	hsa-miR-4650-5p	CLIP-seq
MIRT1386844	hsa-miR-4653-3p	CLIP-seq
MIRT2395137	hsa-miR-4657	CLIP-seq
MIRT1386845	hsa-miR-4662b	CLIP-seq
MIRT1386847	hsa-miR-4670-5p	CLIP-seq
MIRT1386848	hsa-miR-4683	CLIP-seq
MIRT1386850	hsa-miR-4694-3p	CLIP-seq
MIRT1386852	hsa-miR-4712-5p	CLIP-seq
MIRT2631940	hsa-miR-4732-5p	CLIP-seq
MIRT1386855	hsa-miR-4733-3p	CLIP-seq
MIRT1386856	hsa-miR-4761-3p	CLIP-seq
MIRT1386858	hsa-miR-4782-3p	CLIP-seq
MIRT1386859	hsa-miR-4789-5p	CLIP-seq
MIRT1386862	hsa-miR-4793-3p	CLIP-seq
MIRT1386863	hsa-miR-4795-3p	CLIP-seq
MIRT1386864	hsa-miR-4796-3p	CLIP-seq
MIRT1386866	hsa-miR-508-3p	CLIP-seq
MIRT1386867	hsa-miR-516b	CLIP-seq
MIRT1386868	hsa-miR-519d	CLIP-seq
MIRT1386869	hsa-miR-522	CLIP-seq
MIRT1386870	hsa-miR-539	CLIP-seq
MIRT1386871	hsa-miR-542-3p	CLIP-seq
MIRT1386872	hsa-miR-543	CLIP-seq
MIRT1386875	hsa-miR-548ah	CLIP-seq
MIRT1386877	hsa-miR-548c-3p	CLIP-seq
MIRT1386878	hsa-miR-548m	CLIP-seq
MIRT2338376	hsa-miR-552	CLIP-seq
MIRT2395138	hsa-miR-558	CLIP-seq
MIRT2631941	hsa-miR-569	CLIP-seq
MIRT1386882	hsa-miR-577	CLIP-seq
MIRT1386884	hsa-miR-582-5p	CLIP-seq
MIRT2631942	hsa-miR-604	CLIP-seq
MIRT1386886	hsa-miR-616	CLIP-seq
MIRT1386887	hsa-miR-620	CLIP-seq
MIRT1386888	hsa-miR-629	CLIP-seq
MIRT1386889	hsa-miR-642a	CLIP-seq
MIRT2631943	hsa-miR-644	CLIP-seq
MIRT2631944	hsa-miR-647	CLIP-seq
MIRT1386892	hsa-miR-770-5p	CLIP-seq
MIRT1386893	hsa-miR-802	CLIP-seq
MIRT1386894	hsa-miR-890	CLIP-seq
MIRT1386895	hsa-miR-93	CLIP-seq
MIRT2631926	hsa-miR-103a	CLIP-seq
MIRT1386736	hsa-miR-103b	CLIP-seq
MIRT1386737	hsa-miR-106a	CLIP-seq
MIRT1386738	hsa-miR-106b	CLIP-seq
MIRT2631927	hsa-miR-107	CLIP-seq
MIRT2631928	hsa-miR-1184	CLIP-seq
MIRT1386744	hsa-miR-1270	CLIP-seq
MIRT1386746	hsa-miR-128	CLIP-seq
MIRT1386748	hsa-miR-1298	CLIP-seq
MIRT2631929	hsa-miR-133a	CLIP-seq
MIRT2631930	hsa-miR-133b	CLIP-seq
MIRT1386749	hsa-miR-142-5p	CLIP-seq
MIRT1386753	hsa-miR-17	CLIP-seq
MIRT1386757	hsa-miR-1972	CLIP-seq
MIRT1386758	hsa-miR-198	CLIP-seq
MIRT1386759	hsa-miR-20a	CLIP-seq
MIRT1386760	hsa-miR-20b	CLIP-seq
MIRT1386761	hsa-miR-219-5p	CLIP-seq
MIRT1386762	hsa-miR-2355-3p	CLIP-seq
MIRT1386764	hsa-miR-298	CLIP-seq
MIRT1386765	hsa-miR-29a	CLIP-seq
MIRT1386766	hsa-miR-29b	CLIP-seq
MIRT1386767	hsa-miR-29c	CLIP-seq
MIRT1386769	hsa-miR-3126-3p	CLIP-seq
MIRT1386770	hsa-miR-3130-3p	CLIP-seq
MIRT2631931	hsa-miR-3137	CLIP-seq
MIRT1386773	hsa-miR-3143	CLIP-seq
MIRT1386774	hsa-miR-3152-3p	CLIP-seq
MIRT1386779	hsa-miR-3176	CLIP-seq
MIRT1386781	hsa-miR-323-3p	CLIP-seq
MIRT1386783	hsa-miR-337-3p	CLIP-seq
MIRT1386784	hsa-miR-338-5p	CLIP-seq
MIRT1386785	hsa-miR-339-5p	CLIP-seq
MIRT1386786	hsa-miR-3609	CLIP-seq
MIRT1386790	hsa-miR-3646	CLIP-seq
MIRT1386791	hsa-miR-3647-3p	CLIP-seq
MIRT1386793	hsa-miR-3663-3p	CLIP-seq
MIRT1386794	hsa-miR-3671	CLIP-seq
MIRT2631933	hsa-miR-3688-5p	CLIP-seq
MIRT1386797	hsa-miR-371-5p	CLIP-seq
MIRT1386801	hsa-miR-3922-3p	CLIP-seq
MIRT1386802	hsa-miR-3924	CLIP-seq
MIRT1386804	hsa-miR-3944-5p	CLIP-seq
MIRT1386805	hsa-miR-3977	CLIP-seq
MIRT1386806	hsa-miR-410	CLIP-seq
MIRT1386810	hsa-miR-4274	CLIP-seq
MIRT1386811	hsa-miR-4277	CLIP-seq
MIRT1386812	hsa-miR-4282	CLIP-seq
MIRT1386814	hsa-miR-4297	CLIP-seq
MIRT2631935	hsa-miR-4302	CLIP-seq
MIRT1386902	hsa-miR-4318	CLIP-seq
MIRT1386820	hsa-miR-432	CLIP-seq
MIRT2631937	hsa-miR-4424	CLIP-seq
MIRT1386826	hsa-miR-4426	CLIP-seq
MIRT1386827	hsa-miR-4436b-3p	CLIP-seq
MIRT1386829	hsa-miR-4440	CLIP-seq
MIRT1386830	hsa-miR-4445	CLIP-seq
MIRT2631938	hsa-miR-4474-3p	CLIP-seq
MIRT2395135	hsa-miR-4491	CLIP-seq
MIRT1386835	hsa-miR-451	CLIP-seq
MIRT2115777	hsa-miR-4517	CLIP-seq
MIRT1386836	hsa-miR-4519	CLIP-seq
MIRT1386837	hsa-miR-451b	CLIP-seq
MIRT2631939	hsa-miR-4527	CLIP-seq
MIRT1386838	hsa-miR-4531	CLIP-seq
MIRT2395136	hsa-miR-4633-3p	CLIP-seq
MIRT1386841	hsa-miR-4646-3p	CLIP-seq
MIRT1386842	hsa-miR-4647	CLIP-seq
MIRT1386843	hsa-miR-4650-5p	CLIP-seq
MIRT1386844	hsa-miR-4653-3p	CLIP-seq
MIRT2395137	hsa-miR-4657	CLIP-seq
MIRT1386845	hsa-miR-4662b	CLIP-seq
MIRT1386847	hsa-miR-4670-5p	CLIP-seq
MIRT1386848	hsa-miR-4683	CLIP-seq
MIRT1386852	hsa-miR-4712-5p	CLIP-seq
MIRT2631940	hsa-miR-4732-5p	CLIP-seq
MIRT1386855	hsa-miR-4733-3p	CLIP-seq
MIRT1386856	hsa-miR-4761-3p	CLIP-seq
MIRT1386858	hsa-miR-4782-3p	CLIP-seq
MIRT1386862	hsa-miR-4793-3p	CLIP-seq
MIRT1386863	hsa-miR-4795-3p	CLIP-seq
MIRT1386864	hsa-miR-4796-3p	CLIP-seq
MIRT1386866	hsa-miR-508-3p	CLIP-seq
MIRT1386867	hsa-miR-516b	CLIP-seq
MIRT1386868	hsa-miR-519d	CLIP-seq
MIRT1386869	hsa-miR-522	CLIP-seq
MIRT1386870	hsa-miR-539	CLIP-seq
MIRT1386872	hsa-miR-543	CLIP-seq
MIRT1386875	hsa-miR-548ah	CLIP-seq
MIRT1386877	hsa-miR-548c-3p	CLIP-seq
MIRT2338376	hsa-miR-552	CLIP-seq
MIRT2395138	hsa-miR-558	CLIP-seq
MIRT2631941	hsa-miR-569	CLIP-seq
MIRT1386882	hsa-miR-577	CLIP-seq
MIRT1386884	hsa-miR-582-5p	CLIP-seq
MIRT2631942	hsa-miR-604	CLIP-seq
MIRT1386886	hsa-miR-616	CLIP-seq
MIRT1386887	hsa-miR-620	CLIP-seq
MIRT1386889	hsa-miR-642a	CLIP-seq
MIRT2631943	hsa-miR-644	CLIP-seq
MIRT2631944	hsa-miR-647	CLIP-seq
MIRT1386892	hsa-miR-770-5p	CLIP-seq
MIRT1386893	hsa-miR-802	CLIP-seq
MIRT1386894	hsa-miR-890	CLIP-seq
MIRT1386895	hsa-miR-93	CLIP-seq

Show/Hide all (63)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000281	Process	Mitotic cytokinesis	IMP	17620337
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	TAS	1527002
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IMP	17620337, 34211179
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	1527002
GO:0005515	Function	Protein binding	IPI	9537418, 11779178, 12820899, 15262991, 17043677, 20467437, 29961565, 30021884, 31413325
GO:0005516	Function	Calmodulin binding	IEA
GO:0005543	Function	Phospholipid binding	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA	9537418
GO:0005737	Component	Cytoplasm	IDA	9537418
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	34211179
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	34211179
GO:0005886	Component	Plasma membrane	IEA
GO:0007009	Process	Plasma membrane organization	IMP	17620337
GO:0007417	Process	Central nervous system development	IEA
GO:0007417	Process	Central nervous system development	IMP	34211179
GO:0008091	Component	Spectrin	IEA
GO:0008091	Component	Spectrin	TAS	1527002
GO:0014069	Component	Postsynaptic density	IEA
GO:0014731	Component	Spectrin-associated cytoskeleton	NAS	17620337
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0021556	Process	Central nervous system formation	IEA
GO:0021556	Process	Central nervous system formation	IMP	34211179
GO:0030036	Process	Actin cytoskeleton organization	IBA
GO:0030036	Process	Actin cytoskeleton organization	IMP	34211179
GO:0030054	Component	Cell junction	IBA
GO:0030506	Function	Ankyrin binding	IEA
GO:0030506	Function	Ankyrin binding	IPI	15262991
GO:0030506	Function	Ankyrin binding	NAS	17620337
GO:0030673	Component	Axolemma	IEA
GO:0030673	Component	Axolemma	ISS
GO:0030863	Component	Cortical cytoskeleton	IEA
GO:0030864	Component	Cortical actin cytoskeleton	IBA
GO:0031430	Component	M band	IEA
GO:0032437	Component	Cuticular plate	IEA
GO:0032743	Process	Positive regulation of interleukin-2 production	IMP	24337748
GO:0032991	Component	Protein-containing complex	IEA
GO:0042995	Component	Cell projection	IBA
GO:0043001	Process	Golgi to plasma membrane protein transport	IMP	17620337
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0051015	Function	Actin filament binding	IBA
GO:0051020	Function	GTPase binding	IPI	24337748
GO:0051693	Process	Actin filament capping	IEA
GO:0060390	Process	Regulation of SMAD protein signal transduction	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337
GO:0071709	Process	Membrane assembly	IMP	17620337
GO:0072659	Process	Protein localization to plasma membrane	IBA
GO:0072659	Process	Protein localization to plasma membrane	IEA
GO:0072659	Process	Protein localization to plasma membrane	IMP	17620337
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1903076	Process	Regulation of protein localization to plasma membrane	IGI	24337748
GO:1903078	Process	Positive regulation of protein localization to plasma membrane	IMP	24337748

MIM	HGNC	e!Ensembl
182790	11275	ENSG00000115306

Q01082

Protein name

Spectrin beta chain, non-erythrocytic 1 (Beta-II spectrin) (Fodrin beta chain) (Spectrin, non-erythroid beta chain 1)

Protein function

Fodrin, which seems to be involved in secretion, interacts with calmodulin in a calcium-dependent manner and is thus candidate for the calcium-dependent movement of the cytoskeleton at the membrane. Plays a critical role in central nervous syste

PDB

1AA2 , 1BKR , 3EDV

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00307	CH	54 → 159	Calponin homology (CH) domain	Domain
PF00307	CH	173 → 279	Calponin homology (CH) domain	Domain
PF00435	Spectrin	302 → 412	Spectrin repeat	Domain
PF00435	Spectrin	422 → 526	Spectrin repeat	Domain
PF00435	Spectrin	528 → 636	Spectrin repeat	Domain
PF00435	Spectrin	638 → 742	Spectrin repeat	Domain
PF00435	Spectrin	744 → 847	Spectrin repeat	Domain
PF00435	Spectrin	849 → 953	Spectrin repeat	Domain
PF00435	Spectrin	955 → 1060	Spectrin repeat	Domain
PF00435	Spectrin	1062 → 1167	Spectrin repeat	Domain
PF00435	Spectrin	1169 → 1272	Spectrin repeat	Domain
PF00435	Spectrin	1275 → 1378	Spectrin repeat	Domain
PF00435	Spectrin	1380 → 1483	Spectrin repeat	Domain
PF00435	Spectrin	1485 → 1590	Spectrin repeat	Domain
PF00435	Spectrin	1592 → 1696	Spectrin repeat	Domain
PF00435	Spectrin	1698 → 1803	Spectrin repeat	Domain
PF00435	Spectrin	1805 → 1909	Spectrin repeat	Domain
PF00435	Spectrin	1912 → 2015	Spectrin repeat	Domain
PF00435	Spectrin	2017 → 2100	Spectrin repeat	Domain
PF00169	PH	2198 → 2307	PH domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 2 is present in brain, lung and kidney (at protein level). {ECO:0000269|PubMed:11665863}.

Sequence

MTTTVATDYDNIEIQQQYSDVNNRWDVDDWDNENSSARLFERSRIKALADEREAVQKKTF
TKWVNSHLARVSCRITDLYTDLRDGRMLIKLLEVLSGERLPKPTKGRMRIHCLENVDKAL
QFLKEQRVHLENMGSHDIVDGNHRLTLGLIWTIILRFQIQDISVETEDNKEKKSAKDALL
LWCQMKTAGYPNVNIHNFTTSWRDGMAFNALIHKHRPDLIDFDKLKKSNAHYNLQNAFNL
AEQHLGLTKLLDPEDISVDHPDEKSIITYVVTYYHYFSKMKALAVEGKRIGKVLDNAIET
EKMIEKYESLASDLLEWIEQTIIILNNRKFANSLVGVQQQLQAFNTYRTVEKPPKFTEKG
NLEVLLFTIQSKMRANNQKVYMPREGKLISDINKAWERLEKAEHERELALRNELIRQEKL
EQLARRFDRKAAMRETWLSENQRLVSQDNFGFDLPAVEAATKKHEAIETDIAAYEERVQA
VVAVARELEAENYHDIKRITARKDNVIRLWEYLLELLRARRQRLEMNLGLQKIFQEMLYI
MDWMDEMKVLVLSQDYGKHLLGVEDLLQKHTLVEADIGIQAERVRGVNASAQKFATDGEG
YKPCDPQVIRDRVAHMEFCYQELCQLAAERRARLEESRRLWKFFWEMAEEEGWIREKEKI
LSSDDYGKDLTSVMRLLSKHRAFEDEMSGRSGHFEQAIKEGEDMIAEEHFGSEKIRERII
YIREQWANLEQLSAIRKKRLEEASLLHQFQADADDIDAWMLDILKIVSSSDVGHDEYSTQ
SLVKKHKDVAEEIANYRPTLDTLHEQASALPQEHAESPDVRGRLSGIEERYKEVAELTRL
RKQALQDTLALYKMFSEADACELWIDEKEQWLNNMQIPEKLEDLEVIQHRFESLEPEMNN
QASRVAVVNQIARQLMHSGHPSEKEIKAQQDKLNTRWSQFRELVDRKKDALLSALSIQNY
HLECNETKSWIREKTKVIESTQDLGNDLAGVMALQRKLTGMERDLVAIEAKLSDLQKEAE
KLESEHPDQAQAILSRLAEISDVWEEMKTTLKNREASLGEASKLQQFLRDLDDFQSWLSR
TQTAIASEDMPNTLTEAEKLLTQHENIKNEIDNYEEDYQKMRDMGEMVTQGQTDAQYMFL
RQRLQALDTGWNELHKMWENRQNLLSQSHAYQQFLRDTKQAEAFLNNQEYVLAHTEMPTT
LEGAEAAIKKQEDFMTTMDANEEKINAVVETGRRLVSDGNINSDRIQEKVDSIDDRHRKN
RETASELLMRLKDNRDLQKFLQDCQELSLWINEKMLTAQDMSYDEARNLHSKWLKHQAFM
AELASNKEWLDKIEKEGMQLISEKPETEAVVKEKLTGLHKMWEVLESTTQTKAQRLFDAN
KAELFTQSCADLDKWLHGLESQIQSDDYGKDLTSVNILLKKQQMLENQMEVRKKEIEELQ
SQAQALSQEGKSTDEVDSKRLTVQTKFMELLEPLNERKHNLLASKEIHQFNRDVEDEILW
VGERMPLATSTDHGHNLQTVQLLIKKNQTLQKEIQGHQPRIDDIFERSQNIVTDSSSLSA
EAIRQRLADLKQLWGLLIEETEKRHRRLEEAHRAQQYYFDAAEAEAWMSEQELYMMSEEK
AKDEQSAVSMLKKHQILEQAVEDYAETVHQLSKTSRALVADSHPESERISMRQSKVDKLY
AGLKDLAEERRGKLDERHRLFQLNREVDDLEQWIAEREVVAGSHELGQDYEHVTMLQERF
REFARDTGNIGQERVDTVNHLADELINSGHSDAATIAEWKDGLNEAWADLLELIDTRTQI
LAASYELHKFYHDAKEIFGRIQDKHKKLPEELGRDQNTVETLQRMHTTFEHDIQALGTQV
RQLQEDAARLQAAYAGDKADDIQKRENEVLEAWKSLLDACESRRVRLVDTGDKFRFFSMV
RDLMLWMEDVIRQIEAQEKPRDVSSVELLMNNHQGIKAEIDARNDSFTTCIELGKSLLAR
KHYASEEIKEKLLQLTEKRKEMIDKWEDRWEWLRLILEVHQFSRDASVAEAWLLGQEPYL
SSREIGQSVDEVEKLIKRHEAFEKSAATWDERFSALERLTTLELLEVRRQQEEEERKRRP
PSPEPSTKVSEEAESQQQWDTSKGEQVSQNGLPAEQGSPRMAETVDTSEMVNGATEQRTS
SKESSPIPSPTSDRKAKTALPAQSAATLPARTQETPSAQMEGFLNRKHEWEAHNKKASSR
SWHNVYCVINNQEMGFYKDAKTAASGIPYHSEVPVSLKEAVCEVALDYKKKKHVFKLRLN
DGNEYLFQAKDDEEMNTWIQAISSAISSDKHEVSASTQSTPASSRAQTLPTSVVTITSES
SPGKREKDKEKDKEKRFSLFGKKK

Sequence length

2364

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		NCAM signaling for neurite out-growth Interaction between L1 and Ankyrins RAF/MAP kinase cascade COPI-mediated anterograde transport

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
Developmental delay, impaired speech, and behavioral abnormalities	Pathogenic; Likely pathogenic	rs2103829031, rs2103838734, rs2103842476, rs1678619347, rs756389249, rs748501800, rs2103942370, rs2103838550, rs748951777, rs2549570027, rs2549520186, rs765239220, rs2549468222, rs2549511876, rs2549543024 View all (4 more)	RCV001559330 RCV001559331 RCV001559332 RCV001559333 RCV001559334 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Intellectual disability, autosomal recessive 53	Pathogenic	rs2103925559	RCV001787027	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs776027586	RCV002274377	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs2103866400, rs2104068395, rs2549525393	RCV001780018 RCV002272946 RCV003389179	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pervasive developmental disorder	Pathogenic	rs2103925559	RCV001787027	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPTBN1-related disorder	Pathogenic	rs2103866356	RCV001526439	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

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
Atypical behavior	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic behavior	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BONE FRACTURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Mild global developmental delay	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITRAL VALVE PROLAPSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moderate global developmental delay	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPOTONIA, SEIZURES, AND CEREBELLAR ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPTBN1-related neurodevelopmental disease	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (81)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27496196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	30513241		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	29555987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia, Sickle Cell	Anemia	BEFREE	27984631		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	34573389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	33847457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome	BEFREE	26784546		★★★★★ ★☆☆☆☆ Found in Text Mining only
beta Thalassemia	beta Thalassemia	LHGDN	15310273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	BEFREE	30123287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	35075167, 35132081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25912578, 28918914	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	32860207	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36527113	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37013511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	30606698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	26945731, 30588189		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15899814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	26678488		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	26678488	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	16009595, 19296340		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	25632041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cystitis Interstitial	Interstitial cystitis	Pubtator	39399486	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31756999		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33847457, 35803560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35320353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35320353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	33847457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic Encephalopathy Early Infantile 3	Developmental and epileptic encephalopathy	Pubtator	35803560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	25912578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	11163365		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	11163365		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28229316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28229316, 31131678, 31558418		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	31066025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	38454550	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Defects Congenital	Congenital heart defect	Pubtator	37404133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	25632041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	10585764		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	37404133	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26945731		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	36716822	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33847457	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Kidney Neoplasms	Kidney neoplasm	Pubtator	37013511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	33847457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	12620289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative	Myeloid Leukemia	BEFREE	17764812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukodystrophy Metachromatic	Metachromatic leukodystrophy	Pubtator	35803560	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25096061, 25912578, 29555987		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30606698		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	16158060		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10790290, 16009595, 25912578, 26784546, 26921333, 31206681, 31742723		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15899814		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	39251709	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28229316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	18262053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	LHGDN	18262053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia, Degenerative	Myopia	GWASCAT_DG	22685421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16158060, 28471345		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	16513298, 20564173, 31199897		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27658515, 31066025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	28229316, 29858436		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28229316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	29115457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24430505		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	29145611	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	25912578	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30537234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	34148545	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	30537234		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary sclerosing cholangitis	Sclerosing Cholangitis	BEFREE	31131678		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	31066025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	33847457	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	Pubtator	38069214	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	11673564	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	BEFREE	31066025		★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Spondylocostal dysostosis	Pubtator	22807154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25912578		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	29879932	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	28229316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	37013511	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

SPTBN1 (spectrin beta, non-erythrocytic 1)