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

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6314
Gene name Gene Name - the full gene name approved by the HGNC.	Ataxin 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ATXN7
Synonyms (NCBI Gene) Gene synonyms aliases	ADCAII, OPCA3, SCA7, SGF73
Disease Acronyms (UniProt) Disease acronyms from UniProt database	SCA7
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3p14.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Show/Hide all(1)

Transcription factor	Regulation	Reference
CTCF	Unknown	21689595

Show/Hide all(14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	22100762
GO:0005515	Function	Protein binding	IPI	11371513, 15115762, 20634802, 21078624, 23892081, 24981860
GO:0005634	Component	Nucleus	IDA	22100762
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IEA
GO:0005829	Component	Cytosol	IDA
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:0016578	Process	Histone deubiquitination	IDA	18206972
GO:0016579	Process	Protein deubiquitination	TAS

MIM	HGNC	e!Ensembl
607640	10560	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

Interactions

View interactions

	Reactome
			Ub-specific processing proteases

Show/Hide Causal Diseases (12)

Disease term	Disease name	dbSNP ID	References
Causal
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7, Spinocerebellar ataxia type 7	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926 View all (203 more)	25664129, 27604308, 9288099
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451 View all (71 more)	25751625, 29059683
Cerebellar ataxia	Progressive cerebellar ataxia	rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Cone-rod dystrophy	Cone-Rod Dystrophies	rs200691042, rs121908281, rs28940314, rs121434337, rs80338903, rs121909398, rs28937883, rs397515360, rs137853006, rs786205085, rs137853040, rs137853041, rs786205086, rs104894671, rs1568626209 View all (207 more)
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237 View all (293 more)	30595370, 30054458
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152 View all (20 more)
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Retinitis pigmentosa	Retinitis Pigmentosa	rs267606794, rs200691042, rs397704718, rs202193201, rs267606793, rs2147483647, rs779886453, rs267606691, rs794728002, rs878853253, rs137853189, rs137853190, rs137853112, rs137853113, rs137853114 View all (1830 more)
Schizophrenia	Schizophrenia	rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346 View all (12 more)	31268507, 29483656

Show/Hide Unknown Diseases (4)

Disease term	Disease name	Evidence	Source
Unknown
Congestive heart failure	Congestive heart failure		ClinVar
Spinocerebellar Ataxia	spinocerebellar ataxia 7		GenCC
Diabetes	Diabetes		GWAS
Breast cancer	Breast cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text Mining
Apraxia oculomotor Cogan type	Associate	10330346
Apraxia oculomotor Cogan type	Stimulate	37679515
Ataxia	Associate	15989694, 21088341, 26267067, 27296891, 38421662
Ataxia	Stimulate	20069235, 26374734
Breast Neoplasms	Associate	24943594, 27296891
Carcinoma Hepatocellular	Associate	27855399
Carcinoma Non Small Cell Lung	Stimulate	35445786
Carcinoma Renal Cell	Associate	25230976
Cerebellar Ataxia	Associate	16436644, 22520093, 26267067
Chorea	Associate	26267067
Cognition Disorders	Stimulate	26374734
Colorectal Neoplasms	Associate	27296891
Cone Rod Dystrophies	Associate	38421662
Depressive Disorder	Associate	28585930
Dystonia	Associate	26267067
Fanconi Anemia	Associate	27296891
Frontotemporal Dementia	Associate	37146135
Genetic Diseases Inborn	Associate	19789634, 30933216, 31522753
Hepatitis B	Associate	27855399
Macular Degeneration	Associate	10330346
N acetyltransferase deficiency	Associate	26195632
Neoplasm Metastasis	Stimulate	35445786
Neoplasms	Associate	27296891, 35445786
Nerve Degeneration	Associate	38067163
Neurodegenerative Diseases	Associate	38128014
Olivopontocerebellar Atrophies	Associate	22301348
Parkinson Disease	Associate	30788857
Parkinson Disease Secondary	Associate	26267067, 30788857
Pulmonary Disease Chronic Obstructive	Associate	28416970
Spinocerebellar Ataxia 11	Stimulate	21418439
Spinocerebellar Ataxia 17	Associate	36476347
Spinocerebellar Ataxias	Associate	10330346, 10885657, 11986402, 19789634, 22100762, 23206485, 23236151, 23871770, 23892081, 24129567, 24667781, 24972706, 25900954, 26112709, 26195632 View all (13 more)
Spinocerebellar Ataxias	Stimulate	29316893
Spinocerebellar Degenerations	Associate	26374734, 36476347
Stomach Neoplasms	Associate	35445786
Thalassemia Beta+ Silent Allele	Associate	30933216
Wallerian degeneration of the pyramidal tract	Associate	10330346

ATXN7 (ataxin 7)