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	51684
Gene name	SUFU negative regulator of hedgehog signaling
Gene symbol	SUFU
Synonyms (NCBI Gene)	BCNS2JBTS32PRO1280SUFUHSUFUXL
Chromosome	10
Chromosome location	10q24.32
Summary	The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedge

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SNP ID	Visualize variation	Clinical significance	Consequence
rs144158469	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs149513330	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs202247756	C>T	Risk-factor	Coding sequence variant, missense variant
rs587776578	G>A,C	Pathogenic	Splice donor variant
rs1060501105	A>T	Likely-pathogenic	Splice acceptor variant
rs1060501108	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1060501109	C>T	Pathogenic	Stop gained, coding sequence variant
rs1477199832	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1554841447	G>A	Likely-pathogenic	Splice acceptor variant
rs1554852272	A>G	Pathogenic	Missense variant, coding sequence variant
rs1554852279	->TA	Pathogenic	Frameshift variant, coding sequence variant
rs1554852789	G>A,T	Likely-pathogenic, uncertain-significance	Stop gained, missense variant, coding sequence variant
rs1554854758	T>C	Pathogenic	Missense variant, coding sequence variant
rs1564676479	G>A	Likely-pathogenic	Splice donor variant
rs1564698683	G>A	Pathogenic	Stop gained, coding sequence variant
rs1564698850	->TGTGT	Pathogenic	Frameshift variant, coding sequence variant
rs1590061914	->AG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1590062006	G>A,C	Likely-pathogenic	Splice donor variant
rs1590062899	CAGGGCATCCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1590063305	A>G	Likely-pathogenic	Splice acceptor variant
rs1590065940	G>A	Pathogenic	Coding sequence variant, stop gained
rs1590066162	C>T	Pathogenic	Coding sequence variant, stop gained
rs1590082278	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1590084324	G>A	Pathogenic	Coding sequence variant, stop gained

310

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002084	hsa-miR-378a-5p	Luciferase reporter assayWestern blotqRT-PCR	18077375
MIRT002084	hsa-miR-378a-5p	Luciferase reporter assayWestern blotqRT-PCR	18077375
MIRT000670	hsa-miR-378a-3p	Review	19935707
MIRT000670	hsa-miR-378a-3p	Reporter assay	18077375
MIRT038747	hsa-miR-93-3p	CLASH	23622248
MIRT733733	hsa-miR-20b-3p	ImmunofluorescenceLuciferase reporter assayWestern blotting	33884032
MIRT733733	hsa-miR-20b-3p	ImmunofluorescenceLuciferase reporter assayWestern blotting	33884032
MIRT733944	hsa-miR-324-5p	ImmunofluorescenceLuciferase reporter assayqRT-PCRWestern blotting	33017570
MIRT734464	hsa-miR-150-5p	Luciferase reporter assayqRT-PCRWestern blotting	33848981
MIRT000670	hsa-miR-378a-3p	Western blottingqRT-PCR	33759282
MIRT002084	hsa-miR-378a-5p	Luciferase reporter assayWestern blottingImmunoprecipitaion (IP)RNA-seqqRT-PCRFlow cytometry	31692053
MIRT1402433	hsa-miR-1224-3p	CLIP-seq
MIRT1402434	hsa-miR-1260	CLIP-seq
MIRT1402435	hsa-miR-1260b	CLIP-seq
MIRT1402436	hsa-miR-1280	CLIP-seq
MIRT1402437	hsa-miR-1285	CLIP-seq
MIRT1402438	hsa-miR-1321	CLIP-seq
MIRT1402439	hsa-miR-188-3p	CLIP-seq
MIRT1402440	hsa-miR-3156-3p	CLIP-seq
MIRT1402441	hsa-miR-3184	CLIP-seq
MIRT1402442	hsa-miR-3187-5p	CLIP-seq
MIRT1402443	hsa-miR-3689d	CLIP-seq
MIRT1402444	hsa-miR-423-5p	CLIP-seq
MIRT1402445	hsa-miR-4270	CLIP-seq
MIRT1402446	hsa-miR-4292	CLIP-seq
MIRT1402447	hsa-miR-4308	CLIP-seq
MIRT1402448	hsa-miR-4441	CLIP-seq
MIRT1402449	hsa-miR-4739	CLIP-seq
MIRT1402450	hsa-miR-4755-3p	CLIP-seq
MIRT1402451	hsa-miR-4756-5p	CLIP-seq
MIRT1402452	hsa-miR-612	CLIP-seq
MIRT1402453	hsa-miR-670	CLIP-seq
MIRT1402454	hsa-miR-671-3p	CLIP-seq
MIRT1402455	hsa-miR-720	CLIP-seq
MIRT1402456	hsa-miR-1205	CLIP-seq
MIRT1402457	hsa-miR-1207-3p	CLIP-seq
MIRT1402458	hsa-miR-125a-5p	CLIP-seq
MIRT1402459	hsa-miR-125b	CLIP-seq
MIRT1402460	hsa-miR-1273f	CLIP-seq
MIRT1402461	hsa-miR-1286	CLIP-seq
MIRT1402462	hsa-miR-129-3p	CLIP-seq
MIRT1402463	hsa-miR-1294	CLIP-seq
MIRT1402464	hsa-miR-143	CLIP-seq
MIRT1402465	hsa-miR-1908	CLIP-seq
MIRT1402466	hsa-miR-194	CLIP-seq
MIRT1402467	hsa-miR-224	CLIP-seq
MIRT1402468	hsa-miR-3134	CLIP-seq
MIRT1402469	hsa-miR-3135b	CLIP-seq
MIRT1402470	hsa-miR-3150a-3p	CLIP-seq
MIRT1402471	hsa-miR-3160-3p	CLIP-seq
MIRT1402472	hsa-miR-3175	CLIP-seq
MIRT1402473	hsa-miR-342-5p	CLIP-seq
MIRT1402474	hsa-miR-3651	CLIP-seq
MIRT1402475	hsa-miR-3653	CLIP-seq
MIRT1402443	hsa-miR-3689d	CLIP-seq
MIRT1402476	hsa-miR-370	CLIP-seq
MIRT1402477	hsa-miR-3714	CLIP-seq
MIRT1402478	hsa-miR-371-5p	CLIP-seq
MIRT1402479	hsa-miR-378g	CLIP-seq
MIRT1402480	hsa-miR-3960	CLIP-seq
MIRT1402481	hsa-miR-4269	CLIP-seq
MIRT1402482	hsa-miR-4319	CLIP-seq
MIRT1402483	hsa-miR-4437	CLIP-seq
MIRT1402484	hsa-miR-4457	CLIP-seq
MIRT1402485	hsa-miR-4466	CLIP-seq
MIRT1402486	hsa-miR-4487	CLIP-seq
MIRT1402487	hsa-miR-4534	CLIP-seq
MIRT1402488	hsa-miR-4645-5p	CLIP-seq
MIRT1402489	hsa-miR-4662a-5p	CLIP-seq
MIRT1402490	hsa-miR-4664-5p	CLIP-seq
MIRT1402491	hsa-miR-4667-5p	CLIP-seq
MIRT1402492	hsa-miR-4673	CLIP-seq
MIRT1402493	hsa-miR-4674	CLIP-seq
MIRT1402494	hsa-miR-4676-5p	CLIP-seq
MIRT1402495	hsa-miR-4687-5p	CLIP-seq
MIRT1402496	hsa-miR-4700-5p	CLIP-seq
MIRT1402497	hsa-miR-4708-5p	CLIP-seq
MIRT1402498	hsa-miR-4709-3p	CLIP-seq
MIRT1402499	hsa-miR-4710	CLIP-seq
MIRT1402500	hsa-miR-4722-5p	CLIP-seq
MIRT1402501	hsa-miR-4770	CLIP-seq
MIRT1402502	hsa-miR-513b	CLIP-seq
MIRT1402503	hsa-miR-555	CLIP-seq
MIRT1402504	hsa-miR-558	CLIP-seq
MIRT1402505	hsa-miR-575	CLIP-seq
MIRT1402506	hsa-miR-646	CLIP-seq
MIRT1402507	hsa-miR-663	CLIP-seq
MIRT1402508	hsa-miR-675	CLIP-seq
MIRT1402509	hsa-miR-711	CLIP-seq
MIRT1402510	hsa-miR-939	CLIP-seq
MIRT1402511	hsa-miR-940	CLIP-seq
MIRT1402462	hsa-miR-129-3p	CLIP-seq
MIRT1402468	hsa-miR-3134	CLIP-seq
MIRT1402474	hsa-miR-3651	CLIP-seq
MIRT1402487	hsa-miR-4534	CLIP-seq
MIRT1402495	hsa-miR-4687-5p	CLIP-seq
MIRT1402467	hsa-miR-224	CLIP-seq
MIRT1402470	hsa-miR-3150a-3p	CLIP-seq
MIRT1402472	hsa-miR-3175	CLIP-seq
MIRT1402491	hsa-miR-4667-5p	CLIP-seq
MIRT1402496	hsa-miR-4700-5p	CLIP-seq
MIRT1402510	hsa-miR-939	CLIP-seq
MIRT2120708	hsa-miR-103a	CLIP-seq
MIRT2120709	hsa-miR-107	CLIP-seq
MIRT2120710	hsa-miR-1184	CLIP-seq
MIRT1402456	hsa-miR-1205	CLIP-seq
MIRT2120711	hsa-miR-1207-5p	CLIP-seq
MIRT2120712	hsa-miR-1245b-5p	CLIP-seq
MIRT2120713	hsa-miR-1266	CLIP-seq
MIRT2120714	hsa-miR-1299	CLIP-seq
MIRT1402438	hsa-miR-1321	CLIP-seq
MIRT2120715	hsa-miR-1914	CLIP-seq
MIRT1402466	hsa-miR-194	CLIP-seq
MIRT2120716	hsa-miR-2467-3p	CLIP-seq
MIRT2120717	hsa-miR-3123	CLIP-seq
MIRT2120718	hsa-miR-3127-5p	CLIP-seq
MIRT1402469	hsa-miR-3135b	CLIP-seq
MIRT2120719	hsa-miR-3142	CLIP-seq
MIRT2120720	hsa-miR-3158-5p	CLIP-seq
MIRT2120721	hsa-miR-3202	CLIP-seq
MIRT2120722	hsa-miR-3678-3p	CLIP-seq
MIRT1402479	hsa-miR-378g	CLIP-seq
MIRT2120723	hsa-miR-3918	CLIP-seq
MIRT2120724	hsa-miR-3919	CLIP-seq
MIRT2120725	hsa-miR-3929	CLIP-seq
MIRT1402481	hsa-miR-4269	CLIP-seq
MIRT1402445	hsa-miR-4270	CLIP-seq
MIRT2120726	hsa-miR-4327	CLIP-seq
MIRT2120727	hsa-miR-4418	CLIP-seq
MIRT2120728	hsa-miR-4419b	CLIP-seq
MIRT2120729	hsa-miR-4436b-3p	CLIP-seq
MIRT1402448	hsa-miR-4441	CLIP-seq
MIRT2120730	hsa-miR-4470	CLIP-seq
MIRT2120731	hsa-miR-4478	CLIP-seq
MIRT2120732	hsa-miR-4492	CLIP-seq
MIRT2120733	hsa-miR-4498	CLIP-seq
MIRT2120734	hsa-miR-4505	CLIP-seq
MIRT2120735	hsa-miR-4514	CLIP-seq
MIRT2120736	hsa-miR-4518	CLIP-seq
MIRT2120737	hsa-miR-4533	CLIP-seq
MIRT2120738	hsa-miR-4660	CLIP-seq
MIRT1402495	hsa-miR-4687-5p	CLIP-seq
MIRT2120739	hsa-miR-4690-3p	CLIP-seq
MIRT2120740	hsa-miR-4692	CLIP-seq
MIRT2120741	hsa-miR-4728-5p	CLIP-seq
MIRT1402449	hsa-miR-4739	CLIP-seq
MIRT2120742	hsa-miR-4740-3p	CLIP-seq
MIRT2120743	hsa-miR-4756-3p	CLIP-seq
MIRT1402451	hsa-miR-4756-5p	CLIP-seq
MIRT2120744	hsa-miR-4757-5p	CLIP-seq
MIRT2120745	hsa-miR-4763-3p	CLIP-seq
MIRT2120746	hsa-miR-4782-5p	CLIP-seq
MIRT2120747	hsa-miR-509-3-5p	CLIP-seq
MIRT2120748	hsa-miR-509-5p	CLIP-seq
MIRT2120749	hsa-miR-516b	CLIP-seq
MIRT2120750	hsa-miR-520a-5p	CLIP-seq
MIRT2120751	hsa-miR-525-5p	CLIP-seq
MIRT2120752	hsa-miR-637	CLIP-seq
MIRT2120753	hsa-miR-647	CLIP-seq
MIRT2120754	hsa-miR-762	CLIP-seq
MIRT2120755	hsa-miR-875-3p	CLIP-seq
MIRT1402511	hsa-miR-940	CLIP-seq
MIRT2120708	hsa-miR-103a	CLIP-seq
MIRT2120709	hsa-miR-107	CLIP-seq
MIRT2342707	hsa-miR-10a	CLIP-seq
MIRT2342708	hsa-miR-10b	CLIP-seq
MIRT2120710	hsa-miR-1184	CLIP-seq
MIRT1402456	hsa-miR-1205	CLIP-seq
MIRT2342709	hsa-miR-1225-5p	CLIP-seq
MIRT2342710	hsa-miR-1226	CLIP-seq
MIRT2342711	hsa-miR-1227	CLIP-seq
MIRT2342712	hsa-miR-1229	CLIP-seq
MIRT2342713	hsa-miR-1279	CLIP-seq
MIRT2342714	hsa-miR-150	CLIP-seq
MIRT2342715	hsa-miR-1827	CLIP-seq
MIRT2342716	hsa-miR-1910	CLIP-seq
MIRT2120715	hsa-miR-1914	CLIP-seq
MIRT2342717	hsa-miR-1976	CLIP-seq
MIRT2120716	hsa-miR-2467-3p	CLIP-seq
MIRT2342718	hsa-miR-2467-5p	CLIP-seq
MIRT2342719	hsa-miR-29a	CLIP-seq
MIRT2342720	hsa-miR-29b	CLIP-seq
MIRT2342721	hsa-miR-29c	CLIP-seq
MIRT2342722	hsa-miR-3125	CLIP-seq
MIRT2120720	hsa-miR-3158-5p	CLIP-seq
MIRT2342723	hsa-miR-3183	CLIP-seq
MIRT2342724	hsa-miR-3188	CLIP-seq
MIRT2342725	hsa-miR-320a	CLIP-seq
MIRT2342726	hsa-miR-320b	CLIP-seq
MIRT2342727	hsa-miR-320c	CLIP-seq
MIRT2342728	hsa-miR-320d	CLIP-seq
MIRT2342729	hsa-miR-330-3p	CLIP-seq
MIRT2342730	hsa-miR-3609	CLIP-seq
MIRT2342731	hsa-miR-3916	CLIP-seq
MIRT2120725	hsa-miR-3929	CLIP-seq
MIRT2342732	hsa-miR-3944-5p	CLIP-seq
MIRT2342733	hsa-miR-3974	CLIP-seq
MIRT2342734	hsa-miR-3975	CLIP-seq
MIRT1402445	hsa-miR-4270	CLIP-seq
MIRT2342735	hsa-miR-4283	CLIP-seq
MIRT2342736	hsa-miR-4300	CLIP-seq
MIRT2342737	hsa-miR-4311	CLIP-seq
MIRT2342738	hsa-miR-4316	CLIP-seq
MIRT2120728	hsa-miR-4419b	CLIP-seq
MIRT2342739	hsa-miR-4429	CLIP-seq
MIRT1402448	hsa-miR-4441	CLIP-seq
MIRT1402484	hsa-miR-4457	CLIP-seq
MIRT2342740	hsa-miR-4469	CLIP-seq
MIRT2120731	hsa-miR-4478	CLIP-seq
MIRT2342741	hsa-miR-4530	CLIP-seq
MIRT2120739	hsa-miR-4690-3p	CLIP-seq
MIRT2342742	hsa-miR-4723-3p	CLIP-seq
MIRT2342743	hsa-miR-4733-3p	CLIP-seq
MIRT2342744	hsa-miR-4793-5p	CLIP-seq
MIRT2342745	hsa-miR-485-5p	CLIP-seq
MIRT2120750	hsa-miR-520a-5p	CLIP-seq
MIRT2342746	hsa-miR-520g	CLIP-seq
MIRT2342747	hsa-miR-520h	CLIP-seq
MIRT2120751	hsa-miR-525-5p	CLIP-seq
MIRT2342748	hsa-miR-548ah	CLIP-seq
MIRT2342749	hsa-miR-548p	CLIP-seq
MIRT1402504	hsa-miR-558	CLIP-seq
MIRT2342750	hsa-miR-624	CLIP-seq
MIRT2342751	hsa-miR-645	CLIP-seq
MIRT2120753	hsa-miR-647	CLIP-seq
MIRT2342752	hsa-miR-920	CLIP-seq
MIRT2342753	hsa-miR-922	CLIP-seq
MIRT1402510	hsa-miR-939	CLIP-seq
MIRT1402462	hsa-miR-129-3p	CLIP-seq
MIRT2395408	hsa-miR-219-2-3p	CLIP-seq
MIRT2342722	hsa-miR-3125	CLIP-seq
MIRT1402474	hsa-miR-3651	CLIP-seq
MIRT2342731	hsa-miR-3916	CLIP-seq
MIRT1402446	hsa-miR-4292	CLIP-seq
MIRT2395409	hsa-miR-4450	CLIP-seq
MIRT1402491	hsa-miR-4667-5p	CLIP-seq
MIRT1402495	hsa-miR-4687-5p	CLIP-seq
MIRT2395410	hsa-miR-4695-5p	CLIP-seq
MIRT1402496	hsa-miR-4700-5p	CLIP-seq
MIRT2395411	hsa-miR-4732-5p	CLIP-seq
MIRT2395412	hsa-miR-4764-5p	CLIP-seq
MIRT2460779	hsa-miR-3655	CLIP-seq
MIRT2460780	hsa-miR-4282	CLIP-seq
MIRT2460781	hsa-miR-4686	CLIP-seq
MIRT2460782	hsa-miR-520d-5p	CLIP-seq
MIRT2460783	hsa-miR-524-5p	CLIP-seq
MIRT2460784	hsa-miR-548c-3p	CLIP-seq
MIRT2460785	hsa-miR-590-3p	CLIP-seq
MIRT2120710	hsa-miR-1184	CLIP-seq
MIRT2636489	hsa-miR-1193	CLIP-seq
MIRT2342710	hsa-miR-1226	CLIP-seq
MIRT2342714	hsa-miR-150	CLIP-seq
MIRT2636490	hsa-miR-1915	CLIP-seq
MIRT2636491	hsa-miR-3064-5p	CLIP-seq
MIRT2636492	hsa-miR-3129-3p	CLIP-seq
MIRT2636493	hsa-miR-3163	CLIP-seq
MIRT2636494	hsa-miR-3650	CLIP-seq
MIRT2636495	hsa-miR-4267	CLIP-seq
MIRT2460780	hsa-miR-4282	CLIP-seq
MIRT2636496	hsa-miR-4286	CLIP-seq
MIRT2636497	hsa-miR-4323	CLIP-seq
MIRT2636498	hsa-miR-4324	CLIP-seq
MIRT2636499	hsa-miR-4329	CLIP-seq
MIRT2395409	hsa-miR-4450	CLIP-seq
MIRT2636500	hsa-miR-4645-3p	CLIP-seq
MIRT2636501	hsa-miR-4650-5p	CLIP-seq
MIRT2636502	hsa-miR-4726-3p	CLIP-seq
MIRT2636503	hsa-miR-4786-5p	CLIP-seq
MIRT2636504	hsa-miR-491-5p	CLIP-seq
MIRT2460782	hsa-miR-520d-5p	CLIP-seq
MIRT2460783	hsa-miR-524-5p	CLIP-seq
MIRT2636505	hsa-miR-548ac	CLIP-seq
MIRT2636506	hsa-miR-548ae	CLIP-seq
MIRT2636507	hsa-miR-548aj	CLIP-seq
MIRT2636508	hsa-miR-548am	CLIP-seq
MIRT2636509	hsa-miR-548d-3p	CLIP-seq
MIRT2636510	hsa-miR-548x	CLIP-seq
MIRT2636511	hsa-miR-548z	CLIP-seq
MIRT2460785	hsa-miR-590-3p	CLIP-seq
MIRT2636512	hsa-miR-604	CLIP-seq
MIRT2120753	hsa-miR-647	CLIP-seq
MIRT2636513	hsa-miR-769-5p	CLIP-seq
MIRT2120710	hsa-miR-1184	CLIP-seq
MIRT2342710	hsa-miR-1226	CLIP-seq
MIRT2342714	hsa-miR-150	CLIP-seq
MIRT2636490	hsa-miR-1915	CLIP-seq
MIRT2636491	hsa-miR-3064-5p	CLIP-seq
MIRT2342722	hsa-miR-3125	CLIP-seq
MIRT2342731	hsa-miR-3916	CLIP-seq
MIRT2636495	hsa-miR-4267	CLIP-seq
MIRT2636496	hsa-miR-4286	CLIP-seq
MIRT2636497	hsa-miR-4323	CLIP-seq
MIRT2636498	hsa-miR-4324	CLIP-seq
MIRT2636499	hsa-miR-4329	CLIP-seq
MIRT2342741	hsa-miR-4530	CLIP-seq
MIRT2636501	hsa-miR-4650-5p	CLIP-seq
MIRT2692413	hsa-miR-4690-5p	CLIP-seq
MIRT2636502	hsa-miR-4726-3p	CLIP-seq
MIRT2692414	hsa-miR-4742-5p	CLIP-seq
MIRT2692415	hsa-miR-4763-5p	CLIP-seq
MIRT2636503	hsa-miR-4786-5p	CLIP-seq
MIRT2460782	hsa-miR-520d-5p	CLIP-seq
MIRT2460783	hsa-miR-524-5p	CLIP-seq
MIRT2692416	hsa-miR-583	CLIP-seq
MIRT2692417	hsa-miR-596	CLIP-seq
MIRT2692418	hsa-miR-600	CLIP-seq
MIRT2636512	hsa-miR-604	CLIP-seq
MIRT2120753	hsa-miR-647	CLIP-seq
MIRT2636513	hsa-miR-769-5p	CLIP-seq
MIRT2342753	hsa-miR-922	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	10564661
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	11001584
GO:0001843	Process	Neural tube closure	IEA
GO:0001947	Process	Heart looping	IEA
GO:0003281	Process	Ventricular septum development	IEA
GO:0003714	Function	Transcription corepressor activity	TAS	10559945, 10564661
GO:0005515	Function	Protein binding	IPI	10564661, 10806483, 16189514, 20211142, 22439934, 24035498, 24217340, 24311597, 25241761, 25416956, 25609649, 27234298, 28514442, 28965847, 31403225, 31515488, 32296183, 32814053, 33961781, 35140242, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10806483
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	28965847
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10564661, 10806483
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	28965847
GO:0005737	Component	Cytoplasm	NAS	10564661
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IDA	24311597
GO:0006355	Process	Regulation of DNA-templated transcription	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	10564661
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	10559945
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0008013	Function	Beta-catenin binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	20643644
GO:0021513	Process	Spinal cord dorsal/ventral patterning	IEA
GO:0021775	Process	Smoothened signaling pathway involved in ventral spinal cord interneuron specification	IEA
GO:0021776	Process	Smoothened signaling pathway involved in spinal cord motor neuron cell fate specification	IEA
GO:0035904	Process	Aorta development	IEA
GO:0042308	Process	Negative regulation of protein import into nucleus	TAS	11001584
GO:0043588	Process	Skin development	IEA
GO:0045668	Process	Negative regulation of osteoblast differentiation	TAS	11001584
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IBA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IEA
GO:0045879	Process	Negative regulation of smoothened signaling pathway	IMP	27234298, 28965847
GO:0045879	Process	Negative regulation of smoothened signaling pathway	TAS	11001584
GO:0060976	Process	Coronary vasculature development	IEA
GO:0097542	Component	Ciliary tip	TAS
GO:0097546	Component	Ciliary base	TAS
GO:1990788	Component	GLI-SUFU complex	IPI	24311597
GO:1990788	Component	GLI-SUFU complex	ISS
GO:2000059	Process	Negative regulation of ubiquitin-dependent protein catabolic process	IEA
GO:2001040	Process	Positive regulation of cellular response to drug	IEA

MIM	HGNC	e!Ensembl
607035	16466	ENSG00000107882

Q9UMX1

Protein name

Suppressor of fused homolog (SUFUH)

Protein function

Negative regulator in the hedgehog/smoothened signaling pathway (PubMed:10559945, PubMed:10564661, PubMed:10806483, PubMed:12068298, PubMed:12975309, PubMed:15367681, PubMed:22365972, PubMed:24217340, PubMed:24311597, PubMed:27234298, PubMed:289

PDB

1M1L , 4BL8 , 4BL9 , 4BLA , 4BLB , 4BLD , 4KM8 , 4KM9 , 4KMD , 4KMH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05076	SUFU	64 → 241	Suppressor of fused protein (SUFU)	Family
PF12470	SUFU_C	253 → 473	Suppressor of Fused Gli/Ci N terminal binding domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous in adult tissues. Detected in osteoblasts of the perichondrium in the developing limb of 12-week old embryos. Isoform 1 is detected in fetal brain, lung, kidney and testis. Isoform 2 is detected in fetal testis, and at much

Sequence

MAELRPSGAPGPTAPPAPGPTAPPAFASLFPPGLHAIYGECRRLYPDQPNPLQVTAIVKY
WLGGPDPLDYVSMYRNVGSPSANIPEHWHYISFGLSDLYGDNRVHEFTGTDGPSGFGFEL
TFRLKRETGESAPPTWPAELMQGLARYVFQSENTFCSGDHVSWHSPLDNSESRIQHMLLT
EDPQMQPVQTPFGVVTFLQIVGVCTEELHSAQQWNGQGILELLRTVPIAGGPWLITDMRR
GETIFEIDPHLQERVDKGIETDGSNLSGVSAKCAWDDLSRPPEDDEDSRSICIGTQPRRL
SGKDTEQIRETLRRGLEINSKPVLPPINPQRQNGLAHDRAPSRKDSLESDSSTAIIPHEL
IRTRQLESVHLKFNQESGALIPLCLRGRLLHGRHFTYKSITGDMAITFVSTGVEGAFATE
EHPYAAHGPWLQILLTEEFVEKMLEDLEDLTSPEEFKLPKEYSWPEKKLKVSILPDVVFD
SPLH

Sequence length

484

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway Pathways in cancer Basal cell carcinoma		Degradation of GLI1 by the proteasome GLI3 is processed to GLI3R by the proteasome Hedgehog 'off' state Hedgehog 'on' state

3401

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Basal cell nevus syndrome 2	Pathogenic; Likely pathogenic	rs587776578, rs587776579, rs2545100510, rs1060501105	RCV003223388 RCV003227597 RCV003226893 RCV003448312
Congenital fibrosarcoma	Pathogenic	rs1477199832	RCV003110131
Familial meningioma	Likely pathogenic	rs2135959437, rs2492780262	RCV001542763 RCV004573687
Gorlin syndrome	Likely pathogenic; Pathogenic	rs2063794106, rs2135870923, rs2135597189, rs2135743382, rs907135467, rs2135882232, rs2135888594, rs2135889203, rs2135954200, rs2135621012, rs2135742927, rs2135598685, rs2135597925, rs2135930329, rs2135597558 View all (52 more)	RCV001346789 RCV001377148 RCV001385355 RCV001384999 RCV001380113 RCV001389516 RCV001385040 RCV001381256 RCV002034716 RCV001989389 RCV001968949 RCV001939385 RCV001960648 RCV001875673 RCV001900454 RCV001964809 RCV001949296 RCV001930130 RCV001972212 RCV001891442 RCV001990795 RCV002035931 RCV001942253 RCV001940824 RCV001949599 RCV002245309 RCV002255786 RCV000814945 RCV001385138 RCV001041597 RCV003062298 RCV003067862 RCV002994335 RCV003035731 RCV003044669 RCV003066202 RCV003058151 RCV005215970 RCV003779559 RCV003777135 RCV003325283 RCV003781113 RCV003793976 RCV003803472 RCV003806020 RCV003803950 RCV003803282 RCV003800900 RCV003801177 RCV003805231 RCV000472343 RCV000474581 RCV000463016 RCV000460887 RCV000529064 RCV000705859 RCV000692365 RCV000695755 RCV000701195 RCV000691871 RCV000797237 RCV000801738 RCV000824435 RCV001238662 RCV001385139 RCV001064195 RCV001041644 RCV001070045 RCV001056617 RCV001175210 RCV001230739
Hereditary cancer-predisposing syndrome	Pathogenic; Likely pathogenic	rs2135889203, rs2135954200, rs2135930329, rs2135597189, rs2545095292, rs2135870931, rs771361493, rs587776578, rs587776579, rs2545087054, rs2545095273, rs2135889249, rs2544829669, rs2492790396, rs771084342 View all (9 more)	RCV003169944 RCV005742257 RCV002440974 RCV004681358 RCV004948673 RCV002369650 RCV002378690 RCV002415392 RCV003298027 RCV002371757 RCV003177383 RCV003177384 RCV003310405 RCV003306784 RCV004522027 RCV004522028 RCV004522041 RCV002329034 RCV002358428 RCV005286182 RCV002442446 RCV001027333 RCV001018547 RCV001010787 RCV001024735
Joubert syndrome 32	Likely pathogenic; Pathogenic	rs1060501105, rs1554852272	RCV003448312 RCV000515250
Medulloblastoma	Likely pathogenic; Pathogenic	rs2063794106, rs2135870923, rs2135597189, rs2135743382, rs907135467, rs2135882232, rs2135888594, rs2135889203, rs2135954200, rs2135621012, rs2135742927, rs2135598685, rs2135597925, rs2135930329, rs2135597558 View all (51 more)	RCV001346789 RCV001377148 RCV001385355 RCV001384999 RCV001380113 RCV001389516 RCV001385040 RCV001381256 RCV002034716 RCV001989389 RCV001968949 RCV001939385 RCV001960648 RCV001875673 RCV001900454 RCV001964809 RCV001949296 RCV001930130 RCV001972212 RCV001891442 RCV001990795 RCV002035931 RCV001942253 RCV001940824 RCV001949599 RCV002291206 RCV000814945 RCV001385138 RCV001041597 RCV003062298 RCV003067862 RCV000200021 RCV002994335 RCV003035731 RCV003044669 RCV003066202 RCV003058151 RCV005215970 RCV003779559 RCV003777135 RCV003781113 RCV003793976 RCV003803472 RCV003806020 RCV003803950 RCV003803282 RCV003800900 RCV003801177 RCV003805231 RCV000472343 RCV000474581 RCV000463016 RCV000460887 RCV000529064 RCV000705859 RCV000692365 RCV000695755 RCV000701195 RCV000691871 RCV000797237 RCV000801738 RCV000824435 RCV001238662 RCV001385139 RCV001064195 RCV001041644 RCV001070045 RCV001056617 RCV001230739
Neurodevelopmental disorder	Likely pathogenic	rs2135867122	RCV002277674
Oculomotor apraxia	Pathogenic	rs2135866639	RCV001785236
SUFU-related disorder	Pathogenic; Likely pathogenic	rs587776578, rs2545101102, rs1564698850	RCV001270787 RCV004552568 RCV004737958

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified	Conflicting classifications of pathogenicity	rs766370528	RCV000761042
Basal cell nevus syndrome 1	Uncertain significance; Conflicting classifications of pathogenicity	rs761234425, rs377614167, rs2063696863	RCV005601837 RCV005600869 RCV005055154
Craniopharyngioma	Conflicting classifications of pathogenicity	rs145704867	RCV000761145
Gastric cancer	-	rs2135959354	RCV005922776
Meningioma	Conflicting classifications of pathogenicity	rs202247757	RCV005355624
Microform holoprosencephaly	Conflicting classifications of pathogenicity	rs587778699	RCV000223867
Ovarian serous cystadenocarcinoma	Likely benign	rs760239843	RCV005934935
Prostate cancer	Uncertain significance	rs193921097	RCV000149087
See cases	Uncertain significance	rs202247756	RCV004797768
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs144158469	RCV005899523

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abnormalities Drug Induced	Associate	39181021
Acute Lung Injury	Associate	23538333
Adenoma Pleomorphic	Associate	26790448
Agenesis of Cerebellar Vermis	Associate	28965847, 33024317, 34675124, 37131188, 39181021
Alcohol Related Disorders	Associate	28965847
Apraxia oculomotor Cogan type	Associate	33024317, 34675124, 39181021
Basal cell carcinoma infundibulocystic	Associate	32217615
Basal Cell Nevus Syndrome	Associate	23951062, 28915250, 29186568, 33441926, 33860896, 33893086
Brain Diseases	Associate	31639285
Brain Neoplasms	Associate	12150819, 35017538
Carcinogenesis	Associate	30695694
Carcinoma Basal Cell	Associate	29186568, 33441926, 33860896
Carcinoma Mucoepidermoid	Associate	26790448
Carcinoma Pancreatic Ductal	Associate	37477952
Cerebellar Diseases	Associate	34675124, 39181021
Child Behavior Disorders	Associate	39181021
Ciliopathies	Associate	28965847
Developmental Defects of Enamel	Associate	28965847
Developmental Disabilities	Associate	34675124, 39181021
Dwarfism Pituitary	Associate	34589056
Enterobacteriaceae Infections	Associate	23538333
Esophageal Squamous Cell Carcinoma	Associate	21210262
Fetal Growth Retardation	Associate	36524356
Fibrosarcoma	Associate	36997313
Gastrointestinal Stromal Tumors	Associate	27974047
Glucosephosphate Dehydrogenase Deficiency	Associate	33759282
Graft vs Host Disease	Associate	26067905
Hamartoma Syndrome Multiple	Associate	31639285
Holoprosencephaly	Associate	27363716
Intellectual Disability	Associate	34675124
Klippel Feil Syndrome	Associate	32278351
Leukemia Lymphocytic Chronic B Cell	Associate	19074837
Lung Neoplasms	Associate	29335598
Medulloblastoma	Associate	12150819, 26857864, 29186568, 30695694, 32056145, 33860896, 33893086, 33978203
Megalencephaly	Associate	31639285
Melanoma	Associate	30672666
Meningioma	Associate	22958902, 27548314, 28759666, 29186568
Meningioma familial	Associate	22958902
Multiple Organ Failure	Associate	23538333
Neoplasm Metastasis	Associate	30672666
Neoplasms	Associate	15482598, 23778141, 23951062, 34308104, 34580349, 36335125, 37516000
Neoplasms	Inhibit	27849569, 30672666
Neuroblastoma	Associate	23900341
Odontogenic Tumors	Associate	23951062
Ovarian Diseases	Associate	33860896
Pancreatic Intraductal Neoplasms	Associate	30716324
Pancreatic Neoplasms	Associate	30716324, 37477952
Periodontitis	Associate	33759282
Polydactyly	Associate	39181021
Polydactyly Postaxial	Associate	28965847
Prostatic Neoplasms	Associate	15482598
Segmentation syndrome 1	Associate	32278351
Sepsis	Associate	23538333
Simosa cranio facial syndrome	Associate	28965847
Simpson Golabi Behmel syndrome	Associate	31639285
Spinocerebellar Degenerations	Associate	28965847
Stomach Neoplasms	Inhibit	30542715

SUFU (SUFU negative regulator of hedgehog signaling)