ATXN7 (ataxin 7)

Gene

• Entrez ID: 6314
• Gene name: Ataxin 7
• Gene symbol: ATXN7
• Synonyms (NCBI Gene): ADCAII, OPCA3, SCA7, SGF73
• Chromosome: 3
• Chromosome location: 3p14.1
• Summary: The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA ty

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004157	hsa-miR-192-5p	Microarray	16822819
MIRT016681	hsa-miR-423-3p	Sequencing	20371350
MIRT050978	hsa-miR-17-5p	CLASH	23622248
MIRT049634	hsa-miR-92a-3p	CLASH	23622248
MIRT043675	hsa-miR-342-3p	CLASH	23622248
MIRT641325	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT641324	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT641323	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT641322	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT641321	hsa-miR-4262	HITS-CLIP	23824327
MIRT641320	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641319	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT641318	hsa-miR-5695	HITS-CLIP	23824327
MIRT641317	hsa-miR-4287	HITS-CLIP	23824327
MIRT641316	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT641315	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT641314	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT641313	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641312	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641311	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT641310	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT641309	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT641308	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT641307	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT641306	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT447218	hsa-miR-130b-5p	PAR-CLIP	22100165
MIRT450293	hsa-miR-4635	PAR-CLIP	22100165
MIRT447217	hsa-miR-9-5p	PAR-CLIP	22100165
MIRT447216	hsa-miR-5093	PAR-CLIP	22100165
MIRT447214	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT447213	hsa-miR-3978	PAR-CLIP	22100165
MIRT447218	hsa-miR-130b-5p	PAR-CLIP	22100165
MIRT447217	hsa-miR-9-5p	PAR-CLIP	22100165
MIRT447216	hsa-miR-5093	PAR-CLIP	22100165
MIRT447215	hsa-miR-452-3p	PAR-CLIP	22100165
MIRT447214	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT447213	hsa-miR-3978	PAR-CLIP	22100165
MIRT728245	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT728246	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT641325	hsa-miR-181a-5p	HITS-CLIP	23824327
MIRT641324	hsa-miR-181b-5p	HITS-CLIP	23824327
MIRT641323	hsa-miR-181c-5p	HITS-CLIP	23824327
MIRT641322	hsa-miR-181d-5p	HITS-CLIP	23824327
MIRT641321	hsa-miR-4262	HITS-CLIP	23824327
MIRT641320	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT641319	hsa-miR-519d-5p	HITS-CLIP	23824327
MIRT641318	hsa-miR-5695	HITS-CLIP	23824327
MIRT641317	hsa-miR-4287	HITS-CLIP	23824327
MIRT641316	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT641315	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT641314	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT641313	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT641312	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT641311	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT641310	hsa-miR-515-5p	HITS-CLIP	23824327
MIRT641309	hsa-miR-519e-5p	HITS-CLIP	23824327
MIRT641308	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT641307	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT641306	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT447218	hsa-miR-130b-5p	PAR-CLIP	22100165
MIRT450293	hsa-miR-4635	PAR-CLIP	22100165
MIRT447217	hsa-miR-9-5p	PAR-CLIP	22100165
MIRT447216	hsa-miR-5093	PAR-CLIP	22100165
MIRT447214	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT447213	hsa-miR-3978	PAR-CLIP	22100165
MIRT447218	hsa-miR-130b-5p	PAR-CLIP	22100165
MIRT447217	hsa-miR-9-5p	PAR-CLIP	22100165
MIRT447216	hsa-miR-5093	PAR-CLIP	22100165
MIRT447215	hsa-miR-452-3p	PAR-CLIP	22100165
MIRT447214	hsa-miR-4753-3p	PAR-CLIP	22100165
MIRT447213	hsa-miR-3978	PAR-CLIP	22100165
MIRT811314	hsa-miR-103a	CLIP-seq
MIRT811315	hsa-miR-105	CLIP-seq
MIRT811316	hsa-miR-107	CLIP-seq
MIRT811317	hsa-miR-10a	CLIP-seq
MIRT811318	hsa-miR-10b	CLIP-seq
MIRT811319	hsa-miR-1206	CLIP-seq
MIRT811320	hsa-miR-1227	CLIP-seq
MIRT811321	hsa-miR-1229	CLIP-seq
MIRT811322	hsa-miR-1248	CLIP-seq
MIRT811323	hsa-miR-1264	CLIP-seq
MIRT811324	hsa-miR-1273f	CLIP-seq
MIRT811325	hsa-miR-1276	CLIP-seq
MIRT811326	hsa-miR-1284	CLIP-seq
MIRT811327	hsa-miR-1291	CLIP-seq
MIRT811328	hsa-miR-129-5p	CLIP-seq
MIRT811329	hsa-miR-1297	CLIP-seq
MIRT811330	hsa-miR-1301	CLIP-seq
MIRT811331	hsa-miR-140-5p	CLIP-seq
MIRT811332	hsa-miR-141	CLIP-seq
MIRT811333	hsa-miR-142-3p	CLIP-seq
MIRT811334	hsa-miR-143	CLIP-seq
MIRT811335	hsa-miR-146b-3p	CLIP-seq
MIRT811336	hsa-miR-149	CLIP-seq
MIRT811337	hsa-miR-154	CLIP-seq
MIRT811338	hsa-miR-181a	CLIP-seq
MIRT811339	hsa-miR-181b	CLIP-seq
MIRT811340	hsa-miR-181c	CLIP-seq
MIRT811341	hsa-miR-181d	CLIP-seq
MIRT811342	hsa-miR-1825	CLIP-seq
MIRT811343	hsa-miR-1827	CLIP-seq
MIRT811344	hsa-miR-188-5p	CLIP-seq
MIRT811345	hsa-miR-1911	CLIP-seq
MIRT811346	hsa-miR-1972	CLIP-seq
MIRT811347	hsa-miR-199a-5p	CLIP-seq
MIRT811348	hsa-miR-199b-5p	CLIP-seq
MIRT811349	hsa-miR-200a	CLIP-seq
MIRT811350	hsa-miR-204	CLIP-seq
MIRT811351	hsa-miR-211	CLIP-seq
MIRT811352	hsa-miR-2116	CLIP-seq
MIRT811353	hsa-miR-217	CLIP-seq
MIRT811354	hsa-miR-2276	CLIP-seq
MIRT811355	hsa-miR-23a	CLIP-seq
MIRT811356	hsa-miR-23b	CLIP-seq
MIRT811357	hsa-miR-23c	CLIP-seq
MIRT811358	hsa-miR-25	CLIP-seq
MIRT811359	hsa-miR-26a	CLIP-seq
MIRT811360	hsa-miR-26b	CLIP-seq
MIRT811361	hsa-miR-296-3p	CLIP-seq
MIRT811362	hsa-miR-3117-5p	CLIP-seq
MIRT811363	hsa-miR-3120-3p	CLIP-seq
MIRT811364	hsa-miR-3120-5p	CLIP-seq
MIRT811365	hsa-miR-3121-3p	CLIP-seq
MIRT811366	hsa-miR-3127-5p	CLIP-seq
MIRT811367	hsa-miR-3137	CLIP-seq
MIRT811368	hsa-miR-3156-5p	CLIP-seq
MIRT811369	hsa-miR-3163	CLIP-seq
MIRT811370	hsa-miR-3164	CLIP-seq
MIRT811371	hsa-miR-3165	CLIP-seq
MIRT811372	hsa-miR-3177-5p	CLIP-seq
MIRT811373	hsa-miR-3189-3p	CLIP-seq
MIRT811374	hsa-miR-3190	CLIP-seq
MIRT811375	hsa-miR-32	CLIP-seq
MIRT811376	hsa-miR-323-3p	CLIP-seq
MIRT811377	hsa-miR-340	CLIP-seq
MIRT811378	hsa-miR-346	CLIP-seq
MIRT811379	hsa-miR-34a	CLIP-seq
MIRT811380	hsa-miR-34c-5p	CLIP-seq
MIRT811381	hsa-miR-3545-5p	CLIP-seq
MIRT811382	hsa-miR-3607-3p	CLIP-seq
MIRT811383	hsa-miR-3612	CLIP-seq
MIRT811384	hsa-miR-363	CLIP-seq
MIRT811385	hsa-miR-3647-3p	CLIP-seq
MIRT811386	hsa-miR-3653	CLIP-seq
MIRT811387	hsa-miR-3658	CLIP-seq
MIRT811388	hsa-miR-367	CLIP-seq
MIRT811389	hsa-miR-3671	CLIP-seq
MIRT811390	hsa-miR-3674	CLIP-seq
MIRT811391	hsa-miR-3680	CLIP-seq
MIRT811392	hsa-miR-3685	CLIP-seq
MIRT811393	hsa-miR-3686	CLIP-seq
MIRT811394	hsa-miR-3689a-5p	CLIP-seq
MIRT811395	hsa-miR-3689b	CLIP-seq
MIRT811396	hsa-miR-3689e	CLIP-seq
MIRT811397	hsa-miR-3689f	CLIP-seq
MIRT811398	hsa-miR-3691-5p	CLIP-seq
MIRT811399	hsa-miR-369-5p	CLIP-seq
MIRT811400	hsa-miR-375	CLIP-seq
MIRT811401	hsa-miR-377	CLIP-seq
MIRT811402	hsa-miR-384	CLIP-seq
MIRT811403	hsa-miR-3908	CLIP-seq
MIRT811404	hsa-miR-3909	CLIP-seq
MIRT811405	hsa-miR-3929	CLIP-seq
MIRT811406	hsa-miR-3938	CLIP-seq
MIRT811407	hsa-miR-3942-5p	CLIP-seq
MIRT811408	hsa-miR-425	CLIP-seq
MIRT811409	hsa-miR-4257	CLIP-seq
MIRT811410	hsa-miR-4267	CLIP-seq
MIRT811411	hsa-miR-4270	CLIP-seq
MIRT811412	hsa-miR-4288	CLIP-seq
MIRT811413	hsa-miR-4302	CLIP-seq
MIRT811414	hsa-miR-4311	CLIP-seq
MIRT811415	hsa-miR-4317	CLIP-seq
MIRT811416	hsa-miR-4325	CLIP-seq
MIRT811417	hsa-miR-4328	CLIP-seq
MIRT811418	hsa-miR-4418	CLIP-seq
MIRT811419	hsa-miR-4419b	CLIP-seq
MIRT811420	hsa-miR-4427	CLIP-seq
MIRT811421	hsa-miR-4433	CLIP-seq
MIRT811422	hsa-miR-4435	CLIP-seq
MIRT811423	hsa-miR-4441	CLIP-seq
MIRT811424	hsa-miR-4449	CLIP-seq
MIRT811425	hsa-miR-4459	CLIP-seq
MIRT811426	hsa-miR-4460	CLIP-seq
MIRT811427	hsa-miR-4465	CLIP-seq
MIRT811428	hsa-miR-4474-5p	CLIP-seq
MIRT811429	hsa-miR-4475	CLIP-seq
MIRT811430	hsa-miR-4478	CLIP-seq
MIRT811431	hsa-miR-4490	CLIP-seq
MIRT811432	hsa-miR-449a	CLIP-seq
MIRT811433	hsa-miR-449b	CLIP-seq
MIRT811434	hsa-miR-4519	CLIP-seq
MIRT811435	hsa-miR-451b	CLIP-seq
MIRT811436	hsa-miR-4639-5p	CLIP-seq
MIRT811437	hsa-miR-4645-5p	CLIP-seq
MIRT811438	hsa-miR-4650-5p	CLIP-seq
MIRT811439	hsa-miR-4659a-3p	CLIP-seq
MIRT811440	hsa-miR-4659b-3p	CLIP-seq
MIRT811441	hsa-miR-4666-5p	CLIP-seq
MIRT811442	hsa-miR-4673	CLIP-seq
MIRT811443	hsa-miR-4677-3p	CLIP-seq
MIRT811444	hsa-miR-4677-5p	CLIP-seq
MIRT811445	hsa-miR-4679	CLIP-seq
MIRT811446	hsa-miR-4680-3p	CLIP-seq
MIRT811447	hsa-miR-4698	CLIP-seq
MIRT811448	hsa-miR-4703-5p	CLIP-seq
MIRT811449	hsa-miR-4708-5p	CLIP-seq
MIRT811450	hsa-miR-4709-3p	CLIP-seq
MIRT811451	hsa-miR-4715-3p	CLIP-seq
MIRT811452	hsa-miR-4735-5p	CLIP-seq
MIRT811453	hsa-miR-4736	CLIP-seq
MIRT811454	hsa-miR-4742-5p	CLIP-seq
MIRT811455	hsa-miR-4752	CLIP-seq
MIRT811456	hsa-miR-4755-5p	CLIP-seq
MIRT811457	hsa-miR-4760-3p	CLIP-seq
MIRT811458	hsa-miR-4766-3p	CLIP-seq
MIRT811459	hsa-miR-4766-5p	CLIP-seq
MIRT811460	hsa-miR-4768-3p	CLIP-seq
MIRT811461	hsa-miR-4770	CLIP-seq
MIRT811462	hsa-miR-4775	CLIP-seq
MIRT811463	hsa-miR-4777-5p	CLIP-seq
MIRT811464	hsa-miR-4778-3p	CLIP-seq
MIRT811465	hsa-miR-4778-5p	CLIP-seq
MIRT811466	hsa-miR-4780	CLIP-seq
MIRT811467	hsa-miR-4798-3p	CLIP-seq
MIRT811468	hsa-miR-4799-5p	CLIP-seq
MIRT811469	hsa-miR-4803	CLIP-seq
MIRT811470	hsa-miR-489	CLIP-seq
MIRT811471	hsa-miR-495	CLIP-seq
MIRT811472	hsa-miR-499-3p	CLIP-seq
MIRT811473	hsa-miR-499a-3p	CLIP-seq
MIRT811474	hsa-miR-5047	CLIP-seq
MIRT811475	hsa-miR-509-3-5p	CLIP-seq
MIRT811476	hsa-miR-509-3p	CLIP-seq
MIRT811477	hsa-miR-509-5p	CLIP-seq
MIRT811478	hsa-miR-518d-5p	CLIP-seq
MIRT811479	hsa-miR-519b-5p	CLIP-seq
MIRT811480	hsa-miR-519c-5p	CLIP-seq
MIRT811481	hsa-miR-520c-5p	CLIP-seq
MIRT811482	hsa-miR-520d-5p	CLIP-seq
MIRT811483	hsa-miR-524-5p	CLIP-seq
MIRT811484	hsa-miR-526a	CLIP-seq
MIRT811485	hsa-miR-543	CLIP-seq
MIRT811486	hsa-miR-548ae	CLIP-seq
MIRT811487	hsa-miR-548aj	CLIP-seq
MIRT811488	hsa-miR-548am	CLIP-seq
MIRT811489	hsa-miR-548c-3p	CLIP-seq
MIRT811490	hsa-miR-548u	CLIP-seq
MIRT811491	hsa-miR-548x	CLIP-seq
MIRT811492	hsa-miR-579	CLIP-seq
MIRT811493	hsa-miR-583	CLIP-seq
MIRT811494	hsa-miR-587	CLIP-seq
MIRT811495	hsa-miR-590-3p	CLIP-seq
MIRT811496	hsa-miR-592	CLIP-seq
MIRT811497	hsa-miR-597	CLIP-seq
MIRT811498	hsa-miR-607	CLIP-seq
MIRT811499	hsa-miR-623	CLIP-seq
MIRT811500	hsa-miR-632	CLIP-seq
MIRT811501	hsa-miR-650	CLIP-seq
MIRT811502	hsa-miR-657	CLIP-seq
MIRT811503	hsa-miR-660	CLIP-seq
MIRT811504	hsa-miR-664	CLIP-seq
MIRT811505	hsa-miR-668	CLIP-seq
MIRT811506	hsa-miR-671-5p	CLIP-seq
MIRT811507	hsa-miR-760	CLIP-seq
MIRT811508	hsa-miR-767-3p	CLIP-seq
MIRT811509	hsa-miR-802	CLIP-seq
MIRT811510	hsa-miR-885-5p	CLIP-seq
MIRT811511	hsa-miR-891a	CLIP-seq
MIRT811512	hsa-miR-891b	CLIP-seq
MIRT811513	hsa-miR-892b	CLIP-seq
MIRT811514	hsa-miR-92a	CLIP-seq
MIRT811515	hsa-miR-92b	CLIP-seq
MIRT811516	hsa-miR-940	CLIP-seq
MIRT811418	hsa-miR-4418	CLIP-seq
MIRT811475	hsa-miR-509-3-5p	CLIP-seq
MIRT811477	hsa-miR-509-5p	CLIP-seq
MIRT811326	hsa-miR-1284	CLIP-seq
MIRT811332	hsa-miR-141	CLIP-seq
MIRT811349	hsa-miR-200a	CLIP-seq
MIRT811355	hsa-miR-23a	CLIP-seq
MIRT811356	hsa-miR-23b	CLIP-seq
MIRT811357	hsa-miR-23c	CLIP-seq
MIRT1940002	hsa-miR-3663-5p	CLIP-seq
MIRT811409	hsa-miR-4257	CLIP-seq
MIRT1940003	hsa-miR-548n	CLIP-seq
MIRT811498	hsa-miR-607	CLIP-seq
MIRT2179070	hsa-miR-188-3p	CLIP-seq
MIRT2179071	hsa-miR-4704-3p	CLIP-seq
MIRT2179072	hsa-miR-4740-3p	CLIP-seq
MIRT2179073	hsa-miR-4789-3p	CLIP-seq
MIRT2179074	hsa-miR-4789-5p	CLIP-seq
MIRT2179075	hsa-miR-532-3p	CLIP-seq
MIRT811326	hsa-miR-1284	CLIP-seq
MIRT811355	hsa-miR-23a	CLIP-seq
MIRT811356	hsa-miR-23b	CLIP-seq
MIRT811357	hsa-miR-23c	CLIP-seq
MIRT2179076	hsa-miR-4494	CLIP-seq
MIRT2179077	hsa-miR-4499	CLIP-seq
MIRT811459	hsa-miR-4766-5p	CLIP-seq
MIRT811466	hsa-miR-4780	CLIP-seq
MIRT2384656	hsa-miR-2117	CLIP-seq
MIRT811355	hsa-miR-23a	CLIP-seq
MIRT811356	hsa-miR-23b	CLIP-seq
MIRT811357	hsa-miR-23c	CLIP-seq
MIRT811366	hsa-miR-3127-5p	CLIP-seq
MIRT811367	hsa-miR-3137	CLIP-seq
MIRT2384657	hsa-miR-3143	CLIP-seq
MIRT811393	hsa-miR-3686	CLIP-seq
MIRT811403	hsa-miR-3908	CLIP-seq
MIRT811405	hsa-miR-3929	CLIP-seq
MIRT811407	hsa-miR-3942-5p	CLIP-seq
MIRT2384658	hsa-miR-4273	CLIP-seq
MIRT811419	hsa-miR-4419b	CLIP-seq
MIRT2384659	hsa-miR-4477a	CLIP-seq
MIRT811430	hsa-miR-4478	CLIP-seq
MIRT811448	hsa-miR-4703-5p	CLIP-seq
MIRT811458	hsa-miR-4766-3p	CLIP-seq
MIRT811465	hsa-miR-4778-5p	CLIP-seq
MIRT811469	hsa-miR-4803	CLIP-seq
MIRT2482522	hsa-miR-1976	CLIP-seq
MIRT2482523	hsa-miR-2052	CLIP-seq
MIRT2482524	hsa-miR-3136-3p	CLIP-seq
MIRT811385	hsa-miR-3647-3p	CLIP-seq
MIRT2482525	hsa-miR-3662	CLIP-seq
MIRT811403	hsa-miR-3908	CLIP-seq
MIRT2482526	hsa-miR-4290	CLIP-seq
MIRT2482527	hsa-miR-4307	CLIP-seq
MIRT2482528	hsa-miR-4495	CLIP-seq
MIRT2482529	hsa-miR-450b-5p	CLIP-seq
MIRT811447	hsa-miR-4698	CLIP-seq
MIRT2482530	hsa-miR-4699-3p	CLIP-seq
MIRT2482531	hsa-miR-486-5p	CLIP-seq
MIRT2482532	hsa-miR-507	CLIP-seq
MIRT2482533	hsa-miR-548ac	CLIP-seq
MIRT811486	hsa-miR-548ae	CLIP-seq
MIRT811487	hsa-miR-548aj	CLIP-seq
MIRT811488	hsa-miR-548am	CLIP-seq
MIRT2482534	hsa-miR-548d-3p	CLIP-seq
MIRT1940003	hsa-miR-548n	CLIP-seq
MIRT2482535	hsa-miR-548t	CLIP-seq
MIRT811491	hsa-miR-548x	CLIP-seq
MIRT2482536	hsa-miR-548z	CLIP-seq
MIRT2482537	hsa-miR-557	CLIP-seq
MIRT2482522	hsa-miR-1976	CLIP-seq
MIRT2482524	hsa-miR-3136-3p	CLIP-seq
MIRT2482526	hsa-miR-4290	CLIP-seq
MIRT2482531	hsa-miR-486-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CTCF	Unknown	21689595

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000124	Component	SAGA complex	NAS	19114550
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	22100762
GO:0005515	Function	Protein binding	IPI	11371513, 15115762, 20634802, 21078624, 23892081, 24981860, 35271311
GO:0005634	Component	Nucleus	IDA	22100762
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	10441328
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0006282	Process	Regulation of DNA repair	NAS	11406595, 11564863
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	9603525
GO:0006997	Process	Nucleus organization	TAS	10441328
GO:0007026	Process	Negative regulation of microtubule depolymerization	IMP	22100762
GO:0007601	Process	Visual perception	TAS	9288099
GO:0015630	Component	Microtubule cytoskeleton	IDA	22100762
GO:0016363	Component	Nuclear matrix	IEA
GO:0033276	Component	Transcription factor TFTC complex	NAS	10373431
GO:0043484	Process	Regulation of RNA splicing	NAS	11564863
GO:0045893	Process	Positive regulation of DNA-templated transcription	NAS	18206972

Other IDs

• MIM: 607640
• HGNC: 10560
• e!Ensembl: ENSG00000163635

Protein

• UniProt ID: O15265
• Protein name: Ataxin-7 (Spinocerebellar ataxia type 7 protein)
• Protein function: Acts as a component of the SAGA (aka STAGA) transcription coactivator-HAT complex (PubMed:15932940, PubMed:18206972). Mediates the interaction of SAGA complex with the CRX and is involved in CRX-dependent gene activation (PubMed:15932940, PubMed
• PDB: 2KKR, 7KTR, 7KTS, 8H7G
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08313	SCA7	327 → 395	SCA7, zinc-binding domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: [Isoform a]: Isoform a is expressed in CNS, but is expressed predominantly in the peripherical tissues. {ECO:0000269|PubMed:12533095}.; TISSUE SPECIFICITY: [Isoform b]: Isoform b is expressed in CNS (PubMed:12533095). Also highly expre
• Sequence:

  MSERAADDVRGEPRRAAAAAGGAAAAAARQQQQQQQQQQPPPPQPQRQQHPPPPPRRTRP
  EDGGPGAASTSAAAMATVGERRPLPSPEVMLGQSWNLWVEASKLPGKDGTELDESFKEFG
  KNREVMGLCREDMPIFGFCPAHDDFYLVVCNDCNQVVKPQAFQSHYERRHSSSSKPPLAV
  PPTSVFSFFPSLSKSKGGSASGSNRSSSGGVLSASSSSSKLLKSPKEKLQLRGNTRPMHP
  IQQSRVPHGRIMTPSVKVEKIHPKMDGTLLKSAVGPTCPATVSSLVKPGLNCPSIPKPTL
  PSPGQILNGKGLPAPPTLEKKPEDNSNNRKFLNKRLSEREFDPDIHCGVIDLDTKKPCTR
  SLTCKTHSLTQRRAVQGRRKRFDVLLAEHKNKTREKELIRHPDSQQPPQPLRDPHPAPPR
  TSQEPHQNPHGVIPSESKPFVASKPKPHTPSLPRPPGCPAQQGGSAPIDPPPVHESPHPP
  LPATEPASRLSSEEGEGDDKEESVEKLDCHYSGHHPQPASFCTFGSRQIGRGYYVFDSRW
  NRLRCALNLMVEKHLNAQLWKKIPPVPSTTSPISTRIPHRTNSVPTSQCGVSYLAAATVS
  TSPVLLSSTCISPNSKSVPAHGTTLNAQPAASGAMDPVCSMQSRQVSSSSSSPSTPSGLS
  SVPSSPMSRKPQKLKSSKSLRPKESSGNSTNCQNASSSTSGGSGKKRKNSSPLLVHSSSS
  SSSSSSSSHSMESFRKNCVAHSGPPYPSTVTSSHSIGLNCVTNKANAVNVRHDQSGRGPP
  TGSPAESIKRMSVMVNSSDSTLSLGPFIHQSNELPVNSHGSFSHSHTPLDKLIGKKRKCS
  PSSSSINNSSSKPTKVAKVPAVNNVHMKHTGTIPGAQGLMNSSLLHQPKARP

• Sequence length: 892

Pathways

Reactome:

Ub-specific processing proteases

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Spinocerebellar ataxia 7	Pathogenic	rs193922929	RCV000768550	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tip-toe gait	Likely pathogenic	rs1337758154	RCV002221436	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATXN7-related disorder	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATOLOGIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOVEMENT DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Retinal dystrophy	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SKIN DISEASES, GENETIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA TYPE 7	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	11030825, 21078624		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	20732423		★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	10330346	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia oculomotor Cogan type	Apraxia	Pubtator	37679515	Stimulate	★☆☆☆☆ Found in Text Mining only
Arsenic Encephalopathy	Arsenic Encephalopathy	CTD_human_DG	16835338		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	15989694, 21088341, 26267067, 27296891, 38421662	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	20069235, 26374734	Stimulate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	11986402, 15080863, 18325672, 19659750, 21078624, 21717286, 23438480, 23943520, 26077168, 30933216		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	LHGDN	15316811, 15932940, 18216249, 18325672		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG	25664129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	30125623		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	GWASCAT_DG	25751625, 29059683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	27296891		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	24943594, 27296891	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27855399	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25230976	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	16436644, 22520093, 26267067	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	9781533		★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	22072678		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	26267067	Associate	★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	21755114		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26374734	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27296891		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	27296891		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27296891	Associate	★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	BEFREE	11580893, 15932940, 19172503, 24759684, 29427104		★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophies	Cone-rod dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cone-Rod Dystrophy 2	Cone-rod dystrophy	BEFREE	11580893, 19172503, 24759684, 29427104		★☆☆☆☆ Found in Text Mining only
Congenital ocular coloboma (disorder)	Congenital ocular coloboma	BEFREE	30445451		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	9781533		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	BEFREE	10768629, 11448300, 11719247, 11939898, 12081723, 17132942, 17420317, 19659750, 26538302, 9109985, 9613852		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28585930		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	28585930	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	CTD_human_DG	16835338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	30054458, 30595370		★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	26267067	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	12810491, 18325672, 30616057		★☆☆☆☆ Found in Text Mining only
Etat Marbre	Status marmoratus	CTD_human_DG	25664129		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi anemia	Pubtator	27296891	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	37146135	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemeralopia	Hemeralopia	CTD_human_DG	25664129		★☆☆☆☆ Found in Text Mining only
Hemeralopia	Hemeralopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	27855399	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11719247, 17604996, 29427104		★☆☆☆☆ Found in Text Mining only
Kearns-Sayre syndrome	Kearns Sayre Syndrome	BEFREE	17720198		★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27855399		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	11041330, 11939898, 19659750, 23347954, 24972706		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	LHGDN	11697524		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	10330346	Associate	★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	BEFREE	11030825, 21078624		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27296891		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28585930		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CTD_human_DG	25664129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23518714		★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28568901, 38128014	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10598805, 10705940, 17344386, 19955365, 21078624, 23197655, 23236151, 24129567, 24160175, 25306109, 25755283, 25859008, 28568901, 29427104, 30559154, 31348003		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	16962040		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31186686		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Olivopontocerebellar Atrophies	Olivopontocerebellar Atrophies	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	BEFREE	12810491		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30788857	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	26267067, 30788857	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	24765663		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	15895552		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	15895552		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	BEFREE	29427104		★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	28416970	Associate	★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	14623729, 15895552		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rod-Cone Dystrophy	Rod-cone dystrophy	BEFREE	11580893, 19172503, 29427104		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29483656, 31268507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Septicemia	Septicemia	BEFREE	22023106		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia, Hereditary	Spastic paraplegia	BEFREE	22491195		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 11	Spinocerebellar ataxia	Pubtator	21418439	Stimulate	★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	24209901		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 17	Spinocerebellar ataxia	Pubtator	36476347	Associate	★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	10415138		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG	25664129		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	24972706		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG	25664129		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG	25664129		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG	25664129		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	BEFREE	10674722		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG	25664129		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	BEFREE	10441328, 10598805, 10602364, 10705940, 11030754, 11354830, 11487572, 11709544, 12471061, 12533095, 12575948, 15932940, 17344386, 17420317, 17961920, 18418675, 19172503, 19789634, 19843541, 19955365, 20621284, 20732423, 20739808, 22072678, 22367614, 23197655, 23236151, 23347954, 23518714, 23592174, 23828024, 23871770, 24129567, 24160175, 24667781, 24759684, 24859968, 25306109, 25647692, 25755283, 25859008, 25900954, 26003224, 26077168, 26195632, 26992556, 27465358, 28568901, 28597910, 29427104, 30381411, 30445451, 30559154, 30699348, 30721448, 31097749, 31348003, 31432449, 9425222, 9425905, 9736784		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar ataxia type 7	Spinocerebellar Ataxia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG	25664129		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	27604308, 9288099		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	10330346, 10885657, 11986402, 19789634, 22100762, 23206485, 23236151, 23871770, 23892081, 24129567, 24667781, 24972706, 25900954, 26112709, 26195632, 26584329, 27044733, 28568901, 28575281, 32138195, 33626063, 33995769, 34148052, 34565721, 35689166, 37283503, 38067163, 38421662, 8940279	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	29316893	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	35445786	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear ophthalmoplegia	Supranuclear ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Vision Disability	Vision Disability	CTD_human_DG	25664129		★☆☆☆☆ Found in Text Mining only