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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80208
Gene name Gene Name - the full gene name approved by the HGNC.	SPG11 vesicle trafficking associated, spatacsin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SPG11
Synonyms (NCBI Gene) Gene synonyms aliases	ALS5, CMT2X, KIAA1840
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found

Show/Hide all(185)

SNP ID	Visualize variation	Clinical significance	Consequence
rs80338869	G>A,C,T	Benign, pathogenic	Stop gained, coding sequence variant, synonymous variant, genic downstream transcript variant
rs114945876	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs118203963	G>A,C	Pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant, intron variant
rs138103656	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, non coding transcript variant, genic downstream transcript variant
rs139334167	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs139532029	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs140385286	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs140824939	T>C,G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs141263564	T>A,G	Pathogenic	Missense variant, coding sequence variant, stop gained, genic downstream transcript variant
rs141818132	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, genic downstream transcript variant
rs141848292	G>A	Pathogenic	Downstream transcript variant, coding sequence variant, stop gained, genic downstream transcript variant
rs144165094	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs145132275	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs147550048	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, intron variant
rs147713329	G>A,C,T	Uncertain-significance, pathogenic	Synonymous variant, missense variant, stop gained, genic downstream transcript variant, intron variant, coding sequence variant
rs150761878	C>A,G	Likely-benign, benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs199588440	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs200220848	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, synonymous variant, coding sequence variant, genic downstream transcript variant
rs200793464	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs201689565	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, missense variant
rs267607084	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262709	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262710	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262711	C>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262712	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262713	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262714	AATGAGCTTTTGCAATGCCTC>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, inframe deletion
rs312262715	C>G,T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs312262716	AATAT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262717	A>-,AA	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262718	AA>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262719	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262720	AT>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262721	C>T	Pathogenic	Genic upstream transcript variant, splice donor variant
rs312262722	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262723	G>A,C	Pathogenic-likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant, stop gained
rs312262724	T>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262725	->T	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262726	T>C	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs312262727	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262728	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262729	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262731	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262732	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, stop gained
rs312262733	AGTGATCAAACTGAT>TGGGAGTA	Pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, frameshift variant
rs312262734	ACTT>-	Likely-pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, non coding transcript variant, splice donor variant
rs312262735	->T	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs312262736	CA>-	Pathogenic	Upstream transcript variant, genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs312262737	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs312262738	->A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs312262739	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs312262740	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs312262741	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs312262742	C>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs312262743	C>G,T	Pathogenic	Splice donor variant
rs312262744	->A	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs312262745	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs312262746	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, stop gained
rs312262747	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs312262748	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, missense variant
rs312262749	C>A	Likely-pathogenic	Splice donor variant
rs312262750	->C	Pathogenic	Coding sequence variant, non coding transcript variant, 5 prime UTR variant, frameshift variant
rs312262752	T>-,TT	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs312262753	C>A	Pathogenic	Splice donor variant
rs312262754	TA>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs312262755	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs312262756	TA>-	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs312262757	->T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs312262758	A>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs312262759	TT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs312262761	A>T	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs312262762	G>A	Pathogenic	Intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs312262763	A>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs312262764	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262765	ATCT>CTCCTCCA	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs312262766	CA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs312262767	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, stop gained
rs312262768	TG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262769	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262770	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262771	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, downstream transcript variant, frameshift variant
rs312262772	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs312262773	G>C	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs312262774	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, stop gained
rs312262775	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs312262776	CAGA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs312262777	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, frameshift variant
rs312262778	C>G	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs312262779	C>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262780	T>C	Pathogenic	Genic downstream transcript variant, intron variant
rs312262781	CAAT>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262782	CTCA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262783	->G	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262784	CT>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262785	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs312262786	AG>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262787	->CCT	Pathogenic	Genic downstream transcript variant, intron variant
rs312262788	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs312262789	->TTAA	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs312262790	->A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs368276916	C>A,G	Pathogenic	Missense variant, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs371334506	A>C,G	Likely-pathogenic, uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs372906057	C>A,T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained, 5 prime UTR variant
rs567932275	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, 5 prime UTR variant
rs587777921	CA>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs746971952	CTTT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs747220413	CTGTTACGAG>-	Pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs749652788	->TTCCAGGTTA	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant, intron variant
rs750663981	->G	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, intron variant
rs753257469	->T	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs753920931	C>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant
rs756103019	->T	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs758015273	ACAAAA>-,A	Pathogenic	Frameshift variant, non coding transcript variant, inframe deletion, genic upstream transcript variant, coding sequence variant
rs760618394	->A	Pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs760659950	C>A,T	Pathogenic	Missense variant, non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs762984907	A>T	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs764186203	->CA	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs765061840	G>A	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs765477482	G>T	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs767798272	->GGGA	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs768131119	AACA>-	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs769898852	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs771057519	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs771558571	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, downstream transcript variant, coding sequence variant
rs771813705	G>A	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs773773579	->AA	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs779268551	T>-,TT	Likely-pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant, genic downstream transcript variant
rs779321661	->CAGATCCTCC	Pathogenic	Downstream transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs780301639	CA>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs786204176	G>T	Pathogenic, likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, non coding transcript variant
rs863224524	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant, non coding transcript variant
rs863225439	->C	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs863225440	G>A	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs866400911	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs879255274	C>T	Pathogenic	Intron variant
rs886819382	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, stop gained, missense variant
rs1057518874	C>A	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs1060499768	T>-	Pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1060501168	C>A	Pathogenic	Intron variant, genic downstream transcript variant, splice acceptor variant
rs1060501173	G>A	Pathogenic, likely-pathogenic	Intron variant, stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1060501174	C>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1060501176	A>C,T	Pathogenic	Stop gained, 5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant
rs1064795062	->A	Likely-pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1064797055	T>-	Pathogenic	Intron variant, genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1085307097	G>-	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, frameshift variant
rs1215058780	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, 5 prime UTR variant
rs1220982145	AA>-,A	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, upstream transcript variant, frameshift variant
rs1234882277	G>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, stop gained
rs1323156960	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, downstream transcript variant
rs1362530862	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant, stop gained
rs1366914385	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1405032433	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1462607878	A>T	Pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1470463921	->A	Pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1555446712	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555447432	C>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1555447459	GT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1555448810	->T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, frameshift variant
rs1555450825	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555451152	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555451417	TGTTGCTGAATGCTGTTCC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555451491	->A	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1555451983	A>T	Pathogenic	Splice donor variant
rs1555453727	->CATTGTAG	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1555454488	A>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, non coding transcript variant, frameshift variant
rs1555454508	GTA>ATC	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1555455246	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant, non coding transcript variant
rs1555456457	T>A	Pathogenic	Splice acceptor variant
rs1566838168	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1567129475	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1567138536	TCGAGAAAATCTG>-	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1567148391	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, splice donor variant
rs1595817021	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1595817498	GGTTACCTTGGCATAACTCTCTGCTG>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, splice donor variant, intron variant
rs1595842556	->A	Pathogenic	Downstream transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs1595878941	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1595888828	ATAACATCAACAGTCAGAA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1595898030	C>T	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, coding sequence variant, upstream transcript variant
rs1595898055	->TC	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595898078	->GGGACATTTTCATG	Pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, upstream transcript variant
rs1595935001	TTAAG>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1595938132	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1595940058	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs1595940106	G>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1595945569	->TG	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant

Show/Hide all(111)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030959	hsa-miR-21-5p	Microarray	18591254
MIRT050465	hsa-miR-22-3p	CLASH	23622248
MIRT1383753	hsa-miR-101	CLIP-seq
MIRT1383754	hsa-miR-3156-5p	CLIP-seq
MIRT1383755	hsa-miR-4445	CLIP-seq
MIRT1383756	hsa-miR-4655-5p	CLIP-seq
MIRT1383757	hsa-miR-4659a-3p	CLIP-seq
MIRT1383758	hsa-miR-4659b-3p	CLIP-seq
MIRT1383759	hsa-miR-4766-3p	CLIP-seq
MIRT1383760	hsa-miR-4778-3p	CLIP-seq
MIRT1383761	hsa-miR-515-5p	CLIP-seq
MIRT1383762	hsa-miR-548p	CLIP-seq
MIRT1383763	hsa-miR-586	CLIP-seq
MIRT1383764	hsa-miR-942	CLIP-seq
MIRT1383753	hsa-miR-101	CLIP-seq
MIRT1383765	hsa-miR-144	CLIP-seq
MIRT1383766	hsa-miR-190	CLIP-seq
MIRT1383767	hsa-miR-190b	CLIP-seq
MIRT1383755	hsa-miR-4445	CLIP-seq
MIRT1383756	hsa-miR-4655-5p	CLIP-seq
MIRT2114876	hsa-miR-1200	CLIP-seq
MIRT2114877	hsa-miR-3125	CLIP-seq
MIRT2114878	hsa-miR-3915	CLIP-seq
MIRT2114879	hsa-miR-3916	CLIP-seq
MIRT2114880	hsa-miR-3928	CLIP-seq
MIRT2114881	hsa-miR-4324	CLIP-seq
MIRT2114882	hsa-miR-544b	CLIP-seq
MIRT2114876	hsa-miR-1200	CLIP-seq
MIRT2337583	hsa-miR-200b	CLIP-seq
MIRT2337584	hsa-miR-200c	CLIP-seq
MIRT2114877	hsa-miR-3125	CLIP-seq
MIRT2337585	hsa-miR-3140-3p	CLIP-seq
MIRT2337586	hsa-miR-374c	CLIP-seq
MIRT2114878	hsa-miR-3915	CLIP-seq
MIRT2114879	hsa-miR-3916	CLIP-seq
MIRT2114880	hsa-miR-3928	CLIP-seq
MIRT2337587	hsa-miR-429	CLIP-seq
MIRT2114881	hsa-miR-4324	CLIP-seq
MIRT2114882	hsa-miR-544b	CLIP-seq
MIRT2337588	hsa-miR-655	CLIP-seq
MIRT1383753	hsa-miR-101	CLIP-seq
MIRT2631132	hsa-miR-1184	CLIP-seq
MIRT2114876	hsa-miR-1200	CLIP-seq
MIRT2631133	hsa-miR-1205	CLIP-seq
MIRT1383765	hsa-miR-144	CLIP-seq
MIRT1383766	hsa-miR-190	CLIP-seq
MIRT1383767	hsa-miR-190b	CLIP-seq
MIRT2337583	hsa-miR-200b	CLIP-seq
MIRT2337584	hsa-miR-200c	CLIP-seq
MIRT2114877	hsa-miR-3125	CLIP-seq
MIRT2337585	hsa-miR-3140-3p	CLIP-seq
MIRT1383754	hsa-miR-3156-5p	CLIP-seq
MIRT2631134	hsa-miR-3158-5p	CLIP-seq
MIRT2631135	hsa-miR-3665	CLIP-seq
MIRT2337586	hsa-miR-374c	CLIP-seq
MIRT2114878	hsa-miR-3915	CLIP-seq
MIRT2114879	hsa-miR-3916	CLIP-seq
MIRT2631136	hsa-miR-3923	CLIP-seq
MIRT2114880	hsa-miR-3928	CLIP-seq
MIRT2337587	hsa-miR-429	CLIP-seq
MIRT2114881	hsa-miR-4324	CLIP-seq
MIRT1383755	hsa-miR-4445	CLIP-seq
MIRT2631137	hsa-miR-4509	CLIP-seq
MIRT2631138	hsa-miR-4528	CLIP-seq
MIRT1383756	hsa-miR-4655-5p	CLIP-seq
MIRT1383757	hsa-miR-4659a-3p	CLIP-seq
MIRT1383758	hsa-miR-4659b-3p	CLIP-seq
MIRT2631139	hsa-miR-4678	CLIP-seq
MIRT2631140	hsa-miR-4686	CLIP-seq
MIRT2631141	hsa-miR-4738-3p	CLIP-seq
MIRT2631142	hsa-miR-4744	CLIP-seq
MIRT1383759	hsa-miR-4766-3p	CLIP-seq
MIRT1383760	hsa-miR-4778-3p	CLIP-seq
MIRT1383761	hsa-miR-515-5p	CLIP-seq
MIRT2114882	hsa-miR-544b	CLIP-seq
MIRT2631143	hsa-miR-548a-5p	CLIP-seq
MIRT2631144	hsa-miR-548ab	CLIP-seq
MIRT2631145	hsa-miR-548ak	CLIP-seq
MIRT2631146	hsa-miR-548b-5p	CLIP-seq
MIRT2631147	hsa-miR-548c-5p	CLIP-seq
MIRT2631148	hsa-miR-548d-5p	CLIP-seq
MIRT2631149	hsa-miR-548h	CLIP-seq
MIRT2631150	hsa-miR-548i	CLIP-seq
MIRT2631151	hsa-miR-548j	CLIP-seq
MIRT2631152	hsa-miR-548k	CLIP-seq
MIRT2631153	hsa-miR-548l	CLIP-seq
MIRT1383762	hsa-miR-548p	CLIP-seq
MIRT2631154	hsa-miR-548w	CLIP-seq
MIRT2631155	hsa-miR-548y	CLIP-seq
MIRT2631156	hsa-miR-552	CLIP-seq
MIRT2631157	hsa-miR-559	CLIP-seq
MIRT1383763	hsa-miR-586	CLIP-seq
MIRT2631158	hsa-miR-630	CLIP-seq
MIRT2337588	hsa-miR-655	CLIP-seq
MIRT2631159	hsa-miR-657	CLIP-seq
MIRT1383764	hsa-miR-942	CLIP-seq
MIRT1383753	hsa-miR-101	CLIP-seq
MIRT1383765	hsa-miR-144	CLIP-seq
MIRT1383766	hsa-miR-190	CLIP-seq
MIRT1383767	hsa-miR-190b	CLIP-seq
MIRT1383754	hsa-miR-3156-5p	CLIP-seq
MIRT1383755	hsa-miR-4445	CLIP-seq
MIRT1383756	hsa-miR-4655-5p	CLIP-seq
MIRT1383757	hsa-miR-4659a-3p	CLIP-seq
MIRT1383758	hsa-miR-4659b-3p	CLIP-seq
MIRT1383759	hsa-miR-4766-3p	CLIP-seq
MIRT1383760	hsa-miR-4778-3p	CLIP-seq
MIRT1383761	hsa-miR-515-5p	CLIP-seq
MIRT1383762	hsa-miR-548p	CLIP-seq
MIRT1383763	hsa-miR-586	CLIP-seq
MIRT1383764	hsa-miR-942	CLIP-seq

Show/Hide all(51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	20613862, 25416956, 29949766, 36096339, 37871017
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	21545838
GO:0005737	Component	Cytoplasm	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005886	Component	Plasma membrane	IDA
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0007040	Process	Lysosome organization	IDA	25365221
GO:0007040	Process	Lysosome organization	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0007268	Process	Chemical synaptic transmission	IMP	24794856
GO:0007409	Process	Axonogenesis	IBA
GO:0007528	Process	Neuromuscular junction development	IEA
GO:0007613	Process	Memory	IEA
GO:0008088	Process	Axo-dendritic transport	IBA
GO:0008088	Process	Axo-dendritic transport	IEA
GO:0008088	Process	Axo-dendritic transport	IMP	24794856
GO:0008104	Process	Intracellular protein localization	IEA
GO:0019901	Function	Protein kinase binding	IDA	25365221
GO:0021957	Process	Corticospinal tract morphogenesis	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	21545838
GO:0033344	Process	Cholesterol efflux	IEA
GO:0042995	Component	Cell projection	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IDA	24794856
GO:0045202	Component	Synapse	IEA
GO:0047496	Process	Vesicle transport along microtubule	IEA
GO:0048489	Process	Synaptic vesicle transport	IBA
GO:0048489	Process	Synaptic vesicle transport	IMP	24794856
GO:0048675	Process	Axon extension	IEA
GO:0048741	Process	Skeletal muscle fiber development	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051668	Process	Localization within membrane	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0090389	Process	Phagosome-lysosome fusion involved in apoptotic cell clearance	IEA
GO:0090659	Process	Walking behavior	IEA
GO:0097049	Process	Motor neuron apoptotic process	IEA
GO:1905037	Process	Autophagosome organization	IDA	25365221
GO:2001256	Process	Regulation of store-operated calcium entry	IEA

MIM	HGNC	e!Ensembl
610844	11226	ENSG00000104133

Protein

UniProt ID

Q96JI7

Protein name

Spatacsin (Colorectal carcinoma-associated protein) (Spastic paraplegia 11 protein)

Protein function

May play a role in neurite plasticity by maintaining cytoskeleton stability and regulating synaptic vesicle transport.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF14649	Spatacsin_C	2085 → 2387	Spatacsin C-terminus	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in all structures of brain, with a high expression in cerebellum. Expressed in cortical projection neurons. {ECO:0000269|PubMed:17322883, ECO:0000269|PubMed:24794856}.

Sequence

MAAEEGVASAASAGGSWGTAAMGRVLPMLLVPVPAEAMGQLGSRAQLRTQPEALGSLTAA
GSLQVLSLTPGSRGGGRCCLEGPFWHFLWEDSRNSSTPTEKPKLLALGENYELLIYEFNL
KDGRCDATILYSCSREALQKLIDDQDISISLLSLRILSFHNNTSLLFINKCVILHIIFPE
RDAAIRVLNCFTLPLPAQAVDMIIDTQLCRGILFVLSSLGWIYIFDVVDGTYVAHVDLAL
HKEDMCNEQQQEPAKISSFTSLKVSQDLDVAVIVSSSNSAVALNLNLYFRQHPGHLLCER
ILEDLPIQGPKGVDEDDPVNSAYNMKLAKFSFQIDRSWKAQLSSLNETIKNSKLEVSCCA
PWFQDILHLESPESGNHSTSVQSWAFIPQDIMHGQYNVLQKDHAKTSDPGRSWKIMHISE
QEEPIELKCVSVTGFTALFTWEVERMGYTITLWDLETQGMQCFSLGTKCIPVDSSGDQQL
CFVLTENGLSLILFGLTQEEFLNRLMIHGSASTVDTLCHLNGWGRCSIPIHALEAGIENR
QLDTVNFFLKSKENLFNPSSKSSVSDQFDHLSSHLYLRNVEELIPALDLLCSAIRESYSE
PQSKHFSEQLLNLTLSFLNNQIKELFIHTEELDEHLQKGVNILTSYINELRTFMIKFPWK
LTDAIDEYDVHENVPKVKESNIWKKLSFEEVIASAILNNKIPEAQTFFRIDSHSAQKLEE
LIGIGLNLVFDNLKKNNIKEASELLKNMGFDVKGQLLKICFYTTNKNIRDFLVEILKEKN
YFSEKEKRTIDFVHQVEKLYLGHFQENMQIQSFPRYWIKEQDFFKHKSVLDSFLKYDCKD
EFNKQDHRIVLNWALWWDQLTQESILLPRISPEEYKSYSPEALWRYLTARHDWLNIILWI
GEFQTQHSYASLQQNKWPLLTVDVINQNTSCNNYMRNEILDKLARNGVFLASELEDFECF
LLRLSRIGGVIQDTLPVQNYKTKEGWDFHSQFILYCLEHSLQHLLYVYLDCYKLSPENCP
FLEKKELHEAHPWFEFLVQCRQVASNLTDPKLIFQASLANAQILIPTNQASVSSMLLEGH
TLLALATTMYSPGGVSQVVQNEENENCLKKVDPQLLKMALTPYPKLKTALFPQCTPPSVL
PSDITIYHLIQSLSPFDPSRLFGWQSANTLAIGDAWSHLPHFSSPDLVNKYAIVERLNFA
YYLHNGRPSFAFGTFLVQELIKSKTPKQLIQQVGNEAYVIGLSSFHIPSIGAACVCFLEL
LGLDSLKLRVDMKVANIILSYKCRNEDAQYSFIRESVAEKLSKLADGEKTTTEELLVLLE
EGTWNSIQQQEIKRLSSESSSQWALVVQFCRLHNMKLSISYLRECAKANDWLQFIIHSQL
HNYHPAEVKSLIQYFSPVIQDHLRLAFENLPSVPTSKMDSDQVCNKCPQELQGSKQEMTD
LFEILLQCSEEPDSWHWLLVEAVKQQAPILSVLASCLQGASAISCLCVWIITSVEDNVAT
EAMGHIQDSTEDHTWNLEDLSVIWRTLLTRQKSKTLIRGFQLFFKDSPLLLVMEMYELCM
FFRNYKEAEAKLLEFQKSLETLNTAATKVHPVIPAMWLEDQVCFLLKLMLQQCKTQYELG
KLLQLFVEREHLFSDGPDVKKLCILCQILKDTSIAINHTIITSYSIENLQHECRSILERL
QTDGQFALARRVAELAELPVDNLVIKEITQEMQTLKHIEQWSLKQARIDFWKKCHENFKK
NSISSKAASSFFSTQAHVACEHPTGWSSMEERHLLLTLAGHWLAQEDVVPLDKLEELEKQ
IWLCRITQHTLGRNQEETEPRFSRQISTSGELSFDSLASEFSFSKLAALNTSKYLELNSL
PSKETCENRLDWKEQESLNFLIGRLLDDGCVHEASRVCRYFHFYNPDVALVLHCRALASG
EASMEDLHPEIHALLQSAELLEEEAPDIPLRRVHSTSSLDSQKFVTVPSSNEVVTNLEVL
TSKCLHGKNYCRQVLCLYDLAKELGCSYTDVAAQDGEAMLRKILASQQPDRCKRAQAFIS
TQGLKPDTVAELVAEEVTRELLTSSQGTGHKQMFNPTEESQTFLQLTTLCQDRTLVGMKL
LDKISSVPHGELSCTTELLILAHHCFTLTCHMEGIIRVLQAAHMLTDNHLAPSEEYGLVV
RLLTGIGRYNEMTYIFDLLHKKHYFEVLMRKKLDPSGTLKTALLDYIKRCRPGDSEKHNM
IALCFSMCREIGENHEAAARIQLKLIESQPWEDSLKDGHQLKQLLLKALTLMLDAAESYA
KDSCVRQAQHCQRLTKLITLQIHFLNTGQNTMLINLGRHKLMDCILALPRFYQASIVAEA
YDFVPDWAEILYQQVILKGDFNYLEEFKQQRLLKSSIFEEISKKYKQHQPTDMVMENLKK
LLTYCEDVYLYYKLAYEHKFYEIVNVLLKDPQTGCCLKDMLAG

Sequence length

2443

Interactions

View interactions

	KEGG
	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases

Show/Hide Causal Diseases (5)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis type 5	rs2083790483, rs312262749, rs1303294230, rs200793464, rs769898852, rs746971952, rs747220413, rs312262788, rs778305085, rs1226110412, rs312262752, rs267607084, rs140385286, rs1555451521, rs312262709 View all (4 more)	N/A
Hereditary spastic paraplegia	Hereditary spastic paraplegia 11, Hereditary spastic paraplegia	rs372670941, rs200793464, rs769898852, rs312262740, rs750663981, rs863224524, rs746971952, rs312262715, rs760618394, rs312262778, rs1220982145, rs750101275, rs312262759, rs747220413, rs312262732 View all (145 more)	N/A
Spastic Paraplegia	spastic paraplegia	rs312262755	N/A
Parkinson disease	Early-onset Parkinson disease 20	rs141263564	N/A
Spermatogenic Failure	SPG11-related spastic paraplegia	rs312262776, rs2083311058	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Mental retardation	intellectual disability	N/A	N/A	ClinVar
Spastic Ataxia	spastic ataxia	N/A	N/A	ClinVar

SPG11 (SPG11 vesicle trafficking associated, spatacsin)