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	26503
Gene name	Solute carrier family 17 member 5
Gene symbol	SLC17A5
Synonyms (NCBI Gene)	ASTISSDNSDSDSIALINSIASDSLDVEAT
Chromosome	6
Chromosome location	6q13
Summary	This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disor

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SNP ID	Visualize variation	Clinical significance	Consequence
rs74360232	C>T	Benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs80338794	G>A	Pathogenic	Coding sequence variant, missense variant
rs80338795	T>A,C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, missense variant, stop gained
rs119491109	T>C	Pathogenic	Missense variant, coding sequence variant
rs119491110	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs141463026	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142553916	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs146095590	C>A,T	Likely-pathogenic	Splice donor variant
rs201284672	A>C	Pathogenic	Coding sequence variant, stop gained
rs386833987	TA>-	Pathogenic	Frameshift variant, coding sequence variant
rs386833988	AC>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant
rs386833989	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs386833990	C>T	Pathogenic, likely-pathogenic	Synonymous variant, coding sequence variant
rs386833991	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs386833992	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs386833993	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs386833994	TTTCTTAATGATGAA>-	Pathogenic	Inframe deletion, coding sequence variant
rs386833995	C>G	Likely-pathogenic	Splice acceptor variant
rs386833996	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs587779410	A>G	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs727504156	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs727504157	C>A	Pathogenic	Stop gained, coding sequence variant
rs769235753	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs771156053	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs772039085	A>-,AA	Likely-pathogenic	Coding sequence variant, frameshift variant
rs794729653	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs868677428	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516257	A>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516419	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516505	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516528	T>G	Likely-pathogenic	Splice acceptor variant
rs1057516549	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516601	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516862	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516910	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516951	C>T	Likely-pathogenic	Splice donor variant
rs1057517028	C>T	Likely-pathogenic, pathogenic	Splice donor variant
rs1057517111	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517119	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517269	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1064794334	A>G	Pathogenic	Splice donor variant
rs1440688652	A>G	Likely-pathogenic	Splice donor variant
rs1472109408	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1474077825	A>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1554161865	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554162230	T>C	Likely-pathogenic	Splice acceptor variant
rs1554162842	T>G	Likely-pathogenic	Splice acceptor variant
rs1554163878	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554163958	C>T	Likely-pathogenic	Splice acceptor variant
rs1554164078	A>T	Likely-pathogenic	Splice donor variant
rs1554164096	T>C	Pathogenic	Splice acceptor variant
rs1554164322	C>G	Likely-pathogenic	Splice acceptor variant

409

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002576	hsa-miR-124-3p	Microarray	15685193
MIRT018617	hsa-miR-335-5p	Microarray	18185580
MIRT002576	hsa-miR-124-3p	Microarray	18668037
MIRT002576	hsa-miR-124-3p	Microarray	15685193
MIRT027706	hsa-miR-98-5p	Microarray	19088304
MIRT029983	hsa-miR-26b-5p	Microarray	19088304
MIRT030990	hsa-miR-21-5p	Microarray	18591254
MIRT554233	hsa-miR-323a-3p	PAR-CLIP	21572407
MIRT554232	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT554231	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT554230	hsa-miR-940	PAR-CLIP	21572407
MIRT554229	hsa-miR-1827	PAR-CLIP	21572407
MIRT554228	hsa-miR-633	PAR-CLIP	21572407
MIRT554227	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546476	hsa-miR-4255	PAR-CLIP	21572407
MIRT546475	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT546474	hsa-miR-4328	PAR-CLIP	21572407
MIRT554233	hsa-miR-323a-3p	PAR-CLIP	21572407
MIRT554232	hsa-miR-6808-5p	PAR-CLIP	21572407
MIRT554231	hsa-miR-6893-5p	PAR-CLIP	21572407
MIRT554230	hsa-miR-940	PAR-CLIP	21572407
MIRT554229	hsa-miR-1827	PAR-CLIP	21572407
MIRT554228	hsa-miR-633	PAR-CLIP	21572407
MIRT554227	hsa-miR-6866-5p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546477	hsa-miR-142-3p	PAR-CLIP	21572407
MIRT546476	hsa-miR-4255	PAR-CLIP	21572407
MIRT546475	hsa-miR-6504-3p	PAR-CLIP	21572407
MIRT546474	hsa-miR-4328	PAR-CLIP	21572407
MIRT1353425	hsa-miR-106a	CLIP-seq
MIRT1353426	hsa-miR-106b	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT1353428	hsa-miR-1226	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353430	hsa-miR-1245	CLIP-seq
MIRT1353431	hsa-miR-1245b-5p	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353435	hsa-miR-17	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT1353437	hsa-miR-20a	CLIP-seq
MIRT1353438	hsa-miR-20b	CLIP-seq
MIRT1353439	hsa-miR-23a	CLIP-seq
MIRT1353440	hsa-miR-23b	CLIP-seq
MIRT1353441	hsa-miR-23c	CLIP-seq
MIRT1353442	hsa-miR-302a	CLIP-seq
MIRT1353443	hsa-miR-302b	CLIP-seq
MIRT1353444	hsa-miR-302c	CLIP-seq
MIRT1353445	hsa-miR-302d	CLIP-seq
MIRT1353446	hsa-miR-302e	CLIP-seq
MIRT1353447	hsa-miR-3125	CLIP-seq
MIRT1353448	hsa-miR-3142	CLIP-seq
MIRT1353449	hsa-miR-3145-3p	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353451	hsa-miR-3160-3p	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT1353453	hsa-miR-320a	CLIP-seq
MIRT1353454	hsa-miR-320b	CLIP-seq
MIRT1353455	hsa-miR-320c	CLIP-seq
MIRT1353456	hsa-miR-320d	CLIP-seq
MIRT1353457	hsa-miR-323-3p	CLIP-seq
MIRT1353458	hsa-miR-361-5p	CLIP-seq
MIRT1353459	hsa-miR-3617	CLIP-seq
MIRT1353460	hsa-miR-3663-5p	CLIP-seq
MIRT1353461	hsa-miR-3681	CLIP-seq
MIRT1353462	hsa-miR-3689a-5p	CLIP-seq
MIRT1353463	hsa-miR-3689b	CLIP-seq
MIRT1353464	hsa-miR-3689e	CLIP-seq
MIRT1353465	hsa-miR-3689f	CLIP-seq
MIRT1353466	hsa-miR-3691-5p	CLIP-seq
MIRT1353467	hsa-miR-372	CLIP-seq
MIRT1353468	hsa-miR-373	CLIP-seq
MIRT1353469	hsa-miR-376c	CLIP-seq
MIRT1353470	hsa-miR-3908	CLIP-seq
MIRT1353471	hsa-miR-3916	CLIP-seq
MIRT1353472	hsa-miR-3934	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353474	hsa-miR-3942-5p	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT1353476	hsa-miR-4251	CLIP-seq
MIRT1353477	hsa-miR-4257	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT1353479	hsa-miR-433	CLIP-seq
MIRT1353480	hsa-miR-4429	CLIP-seq
MIRT1353481	hsa-miR-4435	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353484	hsa-miR-4660	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353487	hsa-miR-4699-3p	CLIP-seq
MIRT1353488	hsa-miR-4703-5p	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353490	hsa-miR-4731-5p	CLIP-seq
MIRT1353491	hsa-miR-4749-3p	CLIP-seq
MIRT1353492	hsa-miR-4755-3p	CLIP-seq
MIRT1353493	hsa-miR-4766-3p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT1353495	hsa-miR-4789-5p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353497	hsa-miR-499-3p	CLIP-seq
MIRT1353498	hsa-miR-499a-3p	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT1353502	hsa-miR-512-3p	CLIP-seq
MIRT1353503	hsa-miR-519d	CLIP-seq
MIRT1353504	hsa-miR-520a-3p	CLIP-seq
MIRT1353505	hsa-miR-520b	CLIP-seq
MIRT1353506	hsa-miR-520c-3p	CLIP-seq
MIRT1353507	hsa-miR-520d-3p	CLIP-seq
MIRT1353508	hsa-miR-520d-5p	CLIP-seq
MIRT1353509	hsa-miR-520e	CLIP-seq
MIRT1353510	hsa-miR-520g	CLIP-seq
MIRT1353511	hsa-miR-520h	CLIP-seq
MIRT1353512	hsa-miR-524-5p	CLIP-seq
MIRT1353513	hsa-miR-548an	CLIP-seq
MIRT1353514	hsa-miR-548c-3p	CLIP-seq
MIRT1353515	hsa-miR-552	CLIP-seq
MIRT1353516	hsa-miR-580	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT1353518	hsa-miR-630	CLIP-seq
MIRT1353519	hsa-miR-641	CLIP-seq
MIRT1353520	hsa-miR-885-3p	CLIP-seq
MIRT1353521	hsa-miR-93	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT1353428	hsa-miR-1226	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT2104596	hsa-miR-1285	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT2104597	hsa-miR-24	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT2104599	hsa-miR-3187-5p	CLIP-seq
MIRT1353457	hsa-miR-323-3p	CLIP-seq
MIRT2104600	hsa-miR-3605-5p	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT1353460	hsa-miR-3663-5p	CLIP-seq
MIRT2104602	hsa-miR-421	CLIP-seq
MIRT2104603	hsa-miR-4284	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT2104604	hsa-miR-4420	CLIP-seq
MIRT2104605	hsa-miR-4423-5p	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT1353481	hsa-miR-4435	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2104608	hsa-miR-4501	CLIP-seq
MIRT2104609	hsa-miR-4503	CLIP-seq
MIRT2104610	hsa-miR-4514	CLIP-seq
MIRT2104611	hsa-miR-4517	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT2104613	hsa-miR-4690-5p	CLIP-seq
MIRT2104614	hsa-miR-4692	CLIP-seq
MIRT2104615	hsa-miR-4709-5p	CLIP-seq
MIRT2104616	hsa-miR-4736	CLIP-seq
MIRT1353492	hsa-miR-4755-3p	CLIP-seq
MIRT2104617	hsa-miR-4772-3p	CLIP-seq
MIRT2104618	hsa-miR-4795-3p	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT1353514	hsa-miR-548c-3p	CLIP-seq
MIRT2104619	hsa-miR-579	CLIP-seq
MIRT2104620	hsa-miR-595	CLIP-seq
MIRT2104621	hsa-miR-612	CLIP-seq
MIRT2104622	hsa-miR-659	CLIP-seq
MIRT2104623	hsa-miR-661	CLIP-seq
MIRT2104624	hsa-miR-676	CLIP-seq
MIRT1353425	hsa-miR-106a	CLIP-seq
MIRT1353426	hsa-miR-106b	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT2329039	hsa-miR-1224-3p	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT2329040	hsa-miR-1254	CLIP-seq
MIRT2104596	hsa-miR-1285	CLIP-seq
MIRT2329041	hsa-miR-1294	CLIP-seq
MIRT2329042	hsa-miR-1297	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353435	hsa-miR-17	CLIP-seq
MIRT2329043	hsa-miR-204	CLIP-seq
MIRT1353437	hsa-miR-20a	CLIP-seq
MIRT1353438	hsa-miR-20b	CLIP-seq
MIRT2329044	hsa-miR-211	CLIP-seq
MIRT2329045	hsa-miR-22	CLIP-seq
MIRT2329046	hsa-miR-26a	CLIP-seq
MIRT2329047	hsa-miR-26b	CLIP-seq
MIRT1353442	hsa-miR-302a	CLIP-seq
MIRT1353443	hsa-miR-302b	CLIP-seq
MIRT1353444	hsa-miR-302c	CLIP-seq
MIRT1353445	hsa-miR-302d	CLIP-seq
MIRT1353446	hsa-miR-302e	CLIP-seq
MIRT2329048	hsa-miR-3116	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT2329049	hsa-miR-3159	CLIP-seq
MIRT2104599	hsa-miR-3187-5p	CLIP-seq
MIRT1353457	hsa-miR-323-3p	CLIP-seq
MIRT1353458	hsa-miR-361-5p	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT1353460	hsa-miR-3663-5p	CLIP-seq
MIRT1353461	hsa-miR-3681	CLIP-seq
MIRT1353467	hsa-miR-372	CLIP-seq
MIRT1353468	hsa-miR-373	CLIP-seq
MIRT2329050	hsa-miR-3915	CLIP-seq
MIRT2329051	hsa-miR-3938	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT2329052	hsa-miR-3943	CLIP-seq
MIRT2104602	hsa-miR-421	CLIP-seq
MIRT1353476	hsa-miR-4251	CLIP-seq
MIRT2329053	hsa-miR-4316	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT1353479	hsa-miR-433	CLIP-seq
MIRT2104604	hsa-miR-4420	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT2329054	hsa-miR-4433	CLIP-seq
MIRT1353481	hsa-miR-4435	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2329055	hsa-miR-4459	CLIP-seq
MIRT2329056	hsa-miR-4465	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2104609	hsa-miR-4503	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT2329057	hsa-miR-4690-3p	CLIP-seq
MIRT2329058	hsa-miR-4695-3p	CLIP-seq
MIRT2329059	hsa-miR-4708-5p	CLIP-seq
MIRT2104615	hsa-miR-4709-5p	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353490	hsa-miR-4731-5p	CLIP-seq
MIRT1353492	hsa-miR-4755-3p	CLIP-seq
MIRT2329060	hsa-miR-4755-5p	CLIP-seq
MIRT2329061	hsa-miR-4756-3p	CLIP-seq
MIRT2329062	hsa-miR-4768-3p	CLIP-seq
MIRT2104617	hsa-miR-4772-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353502	hsa-miR-512-3p	CLIP-seq
MIRT1353503	hsa-miR-519d	CLIP-seq
MIRT1353504	hsa-miR-520a-3p	CLIP-seq
MIRT1353505	hsa-miR-520b	CLIP-seq
MIRT1353506	hsa-miR-520c-3p	CLIP-seq
MIRT1353507	hsa-miR-520d-3p	CLIP-seq
MIRT1353509	hsa-miR-520e	CLIP-seq
MIRT1353510	hsa-miR-520g	CLIP-seq
MIRT1353511	hsa-miR-520h	CLIP-seq
MIRT1353514	hsa-miR-548c-3p	CLIP-seq
MIRT2329063	hsa-miR-548g	CLIP-seq
MIRT2329064	hsa-miR-548m	CLIP-seq
MIRT2329065	hsa-miR-561	CLIP-seq
MIRT1353516	hsa-miR-580	CLIP-seq
MIRT2104621	hsa-miR-612	CLIP-seq
MIRT2329066	hsa-miR-623	CLIP-seq
MIRT2104622	hsa-miR-659	CLIP-seq
MIRT2104623	hsa-miR-661	CLIP-seq
MIRT2329067	hsa-miR-758	CLIP-seq
MIRT1353520	hsa-miR-885-3p	CLIP-seq
MIRT2329068	hsa-miR-891b	CLIP-seq
MIRT1353521	hsa-miR-93	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT2394620	hsa-miR-3202	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT1353490	hsa-miR-4731-5p	CLIP-seq
MIRT2394621	hsa-miR-4747-5p	CLIP-seq
MIRT2329065	hsa-miR-561	CLIP-seq
MIRT2394622	hsa-miR-720	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT2329050	hsa-miR-3915	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353429	hsa-miR-124	CLIP-seq
MIRT1353434	hsa-miR-1304	CLIP-seq
MIRT1353473	hsa-miR-3941	CLIP-seq
MIRT1353483	hsa-miR-466	CLIP-seq
MIRT1353485	hsa-miR-4666-5p	CLIP-seq
MIRT1353486	hsa-miR-4672	CLIP-seq
MIRT1353489	hsa-miR-4731-3p	CLIP-seq
MIRT1353496	hsa-miR-4801	CLIP-seq
MIRT1353499	hsa-miR-506	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2459505	hsa-miR-4735-5p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT2623493	hsa-miR-1200	CLIP-seq
MIRT2104595	hsa-miR-122	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT2329042	hsa-miR-1297	CLIP-seq
MIRT2623494	hsa-miR-1321	CLIP-seq
MIRT2623495	hsa-miR-1915	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT2623496	hsa-miR-2392	CLIP-seq
MIRT2329046	hsa-miR-26a	CLIP-seq
MIRT2329047	hsa-miR-26b	CLIP-seq
MIRT2623497	hsa-miR-3126-3p	CLIP-seq
MIRT2104598	hsa-miR-3135b	CLIP-seq
MIRT2623498	hsa-miR-3148	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT2623499	hsa-miR-3192	CLIP-seq
MIRT2104600	hsa-miR-3605-5p	CLIP-seq
MIRT2104601	hsa-miR-3652	CLIP-seq
MIRT2623500	hsa-miR-3914	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT2623501	hsa-miR-4252	CLIP-seq
MIRT2623502	hsa-miR-4270	CLIP-seq
MIRT2623503	hsa-miR-4279	CLIP-seq
MIRT2623504	hsa-miR-4314	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT2623505	hsa-miR-4419a	CLIP-seq
MIRT2104606	hsa-miR-4430	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2623506	hsa-miR-4441	CLIP-seq
MIRT2329056	hsa-miR-4465	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2623507	hsa-miR-4510	CLIP-seq
MIRT2104611	hsa-miR-4517	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT2623508	hsa-miR-4725-5p	CLIP-seq
MIRT2623509	hsa-miR-4726-3p	CLIP-seq
MIRT2623510	hsa-miR-4728-5p	CLIP-seq
MIRT2459505	hsa-miR-4735-5p	CLIP-seq
MIRT2623511	hsa-miR-4739	CLIP-seq
MIRT2623512	hsa-miR-4756-5p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT2623513	hsa-miR-4777-3p	CLIP-seq
MIRT2623514	hsa-miR-4786-3p	CLIP-seq
MIRT2623515	hsa-miR-496	CLIP-seq
MIRT2623516	hsa-miR-504	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT2623517	hsa-miR-544b	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT2104622	hsa-miR-659	CLIP-seq
MIRT2623518	hsa-miR-765	CLIP-seq
MIRT2623519	hsa-miR-873	CLIP-seq
MIRT2623520	hsa-miR-875-3p	CLIP-seq
MIRT1353427	hsa-miR-1193	CLIP-seq
MIRT2623493	hsa-miR-1200	CLIP-seq
MIRT1353432	hsa-miR-1273f	CLIP-seq
MIRT1353433	hsa-miR-129-5p	CLIP-seq
MIRT2329042	hsa-miR-1297	CLIP-seq
MIRT2623495	hsa-miR-1915	CLIP-seq
MIRT1353436	hsa-miR-197	CLIP-seq
MIRT2623496	hsa-miR-2392	CLIP-seq
MIRT2329046	hsa-miR-26a	CLIP-seq
MIRT2329047	hsa-miR-26b	CLIP-seq
MIRT2623497	hsa-miR-3126-3p	CLIP-seq
MIRT2623498	hsa-miR-3148	CLIP-seq
MIRT1353450	hsa-miR-3149	CLIP-seq
MIRT1353452	hsa-miR-3170	CLIP-seq
MIRT2623499	hsa-miR-3192	CLIP-seq
MIRT2104600	hsa-miR-3605-5p	CLIP-seq
MIRT2623500	hsa-miR-3914	CLIP-seq
MIRT1353475	hsa-miR-411	CLIP-seq
MIRT2623501	hsa-miR-4252	CLIP-seq
MIRT2623503	hsa-miR-4279	CLIP-seq
MIRT2623504	hsa-miR-4314	CLIP-seq
MIRT1353478	hsa-miR-4324	CLIP-seq
MIRT1353482	hsa-miR-4438	CLIP-seq
MIRT2329056	hsa-miR-4465	CLIP-seq
MIRT2104607	hsa-miR-4474-5p	CLIP-seq
MIRT2104611	hsa-miR-4517	CLIP-seq
MIRT2104612	hsa-miR-4646-5p	CLIP-seq
MIRT2623509	hsa-miR-4726-3p	CLIP-seq
MIRT2459505	hsa-miR-4735-5p	CLIP-seq
MIRT1353494	hsa-miR-4775	CLIP-seq
MIRT2623513	hsa-miR-4777-3p	CLIP-seq
MIRT2623515	hsa-miR-496	CLIP-seq
MIRT1353500	hsa-miR-5095	CLIP-seq
MIRT1353501	hsa-miR-5096	CLIP-seq
MIRT2623517	hsa-miR-544b	CLIP-seq
MIRT1353517	hsa-miR-590-3p	CLIP-seq
MIRT2623518	hsa-miR-765	CLIP-seq
MIRT2623519	hsa-miR-873	CLIP-seq
MIRT2623520	hsa-miR-875-3p	CLIP-seq

Show/Hide all (41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005351	Function	Carbohydrate:proton symporter activity	TAS	10581036
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	HDA	17897319
GO:0005765	Component	Lysosomal membrane	IDA	3961501
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005765	Component	Lysosomal membrane	TAS	10581036
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10581036
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006820	Process	Monoatomic anion transport	TAS	10581036
GO:0006865	Process	Amino acid transport	IEA
GO:0009617	Process	Response to bacterium	IEA
GO:0015136	Function	Sialic acid transmembrane transporter activity	IBA
GO:0015136	Function	Sialic acid transmembrane transporter activity	IDA	10581036
GO:0015136	Function	Sialic acid transmembrane transporter activity	IEA
GO:0015293	Function	Symporter activity	IEA
GO:0015538	Function	Sialic acid:proton symporter activity	TAS
GO:0015739	Process	Sialic acid transport	IBA
GO:0015739	Process	Sialic acid transport	IDA	10581036
GO:0015739	Process	Sialic acid transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10581036
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0022857	Function	Transmembrane transporter activity	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034219	Process	Carbohydrate transmembrane transport	IEA
GO:0042874	Process	D-glucuronate transmembrane transport	IEA
GO:0042880	Function	D-glucuronate transmembrane transporter activity	IEA
GO:0045202	Component	Synapse	IEA
GO:0046942	Process	Carboxylic acid transport	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0098700	Process	Neurotransmitter loading into synaptic vesicle	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:1902600	Process	Proton transmembrane transport	IEA

MIM	HGNC	e!Ensembl
604322	10933	ENSG00000119899

Q9NRA2

Protein name

Sialin (H(+)/nitrate cotransporter) (H(+)/sialic acid cotransporter) (AST) (Membrane glycoprotein HP59) (Solute carrier family 17 member 5) (Vesicular excitatory amino acid transporter) (VEAT)

Protein function

Multifunctional anion transporter that operates via two distinct transport mechanisms, namely proton-coupled anion cotransport and membrane potential-dependent anion transport (PubMed:15510212, PubMed:21781115, PubMed:22778404, PubMed:23889254).

PDB

8DWI , 8U3D , 8U3E , 8U3F , 8U3G , 8U3H , 9AYB

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07690	MFS_1	46 → 441	Major Facilitator Superfamily	Family

Tissue specificity

TISSUE SPECIFICITY: In the adult, detected in placenta, kidney and pancreas. Abundant in the endothelial cells of tumors from ovary, colon, breast and lung, but is not detected in endothelial cells from the corresponding normal tissues (PubMed:10581036, P

Sequence

MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNL
SVALVDMVDSNTTLEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYI
ITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLGVGPLIVLRALEGLGEGVTFP
AMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFS
YNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFST
LCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPS
YAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKG
EVQNWALNDHHGHRH

Sequence length

495

Interactions

View interactions

	KEGG		Reactome
	Lysosome		Sialic acid metabolism Organic anion transporters Defective SLC17A5 causes Salla disease (SD) and ISSD

795

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colon adenocarcinoma	Likely pathogenic; Pathogenic	rs146095590	RCV005900631
Familial cancer of breast	Likely pathogenic; Pathogenic	rs146095590	RCV005900630
Intermediate severe Salla disease	Pathogenic	rs1057517028	RCV002509063
Salla disease	Likely pathogenic; Pathogenic	rs1304456183, rs745386414, rs1768947811, rs2150120881, rs2150120888, rs1562000876, rs753141230, rs777862172, rs2150099393, rs779548058, rs2150099218, rs2150099225, rs2150115214, rs755923873, rs779494716 View all (102 more)	RCV001378755 RCV001389588 RCV001380527 RCV001386530 RCV001388359 RCV001385199 RCV003614086 RCV002539590 RCV001923199 RCV001867160 RCV001932091 RCV002013347 RCV002012026 RCV001907697 RCV001939569 RCV001972775 RCV001972541 RCV002006459 RCV001264451 RCV000588857 RCV002306680 RCV002306686 RCV002307975 RCV002308232 RCV002308358 RCV002308365 RCV002308380 RCV002309034 RCV002309230 RCV002309500 RCV002309521 RCV002307183 RCV002310172 RCV002604707 RCV000185578 RCV002751057 RCV002820214 RCV002823953 RCV000005967 RCV004566684 RCV002512816 RCV002837570 RCV002858469 RCV002975110 RCV003019267 RCV003037719 RCV005608907 RCV003331752 RCV003472757 RCV003472759 RCV003472760 RCV003472761 RCV003472762 RCV003472763 RCV003472764 RCV003472765 RCV003472766 RCV003472767 RCV003472768 RCV003472769 RCV003472770 RCV003472772 RCV003472773 RCV003505500 RCV003505921 RCV003506173 RCV003506695 RCV003504787 RCV003505719 RCV003613638 RCV003614634 RCV003614710 RCV003615195 RCV003881494 RCV004573603 RCV000020682 RCV000411919 RCV000409414 RCV000410715 RCV000409207 RCV000410279 RCV000409832 RCV000409422 RCV000412283 RCV000410694 RCV000410726 RCV000409833 RCV000409486 RCV000412121 RCV000410897 RCV000409761 RCV000412073 RCV001865447 RCV000496107 RCV000763561 RCV001865684 RCV000669078 RCV000666942 RCV000668821 RCV000672852 RCV000667777 RCV000674402 RCV000674986 RCV000674347 RCV000672269 RCV000671606 RCV000667375 RCV000673622 RCV001379556 RCV000798871 RCV000049964 RCV000049965 RCV000049966 RCV000049967 RCV000049968 RCV000049969 RCV000049970 RCV000049971 RCV000049972 RCV000049973 RCV001043461 RCV001260955 RCV001217002 RCV001217755 RCV001217247 RCV001234201 RCV001249651
Sialic acid storage disease, severe infantile type	Likely pathogenic; Pathogenic	rs1562000876, rs753141230, rs777862172, rs1304456183, rs755923873, rs1768174708, rs1277966688, rs727504157, rs727504156, rs1768168686, rs2533510735, rs2533429370, rs2533429191, rs2533510621, rs2533429681 View all (33 more)	RCV005038193 RCV001844397 RCV001844399 RCV005038374 RCV005032003 RCV005032013 RCV002273173 RCV005042300 RCV000005968 RCV002306680 RCV002306686 RCV002307975 RCV002308232 RCV002308358 RCV002308365 RCV002308380 RCV002309034 RCV002309230 RCV002309500 RCV002309521 RCV002307183 RCV002310172 RCV000185579 RCV000763563 RCV000005970 RCV000005971 RCV003154572 RCV005036819 RCV005036820 RCV005047614 RCV005036821 RCV005047615 RCV005036981 RCV003992111 RCV000763562 RCV000005969 RCV005044611 RCV005033917 RCV001332964 RCV000763561 RCV002272324 RCV005034277 RCV005047029 RCV005031537 RCV005031538 RCV000005973 RCV001090089 RCV002298911 RCV001249651
SLC17A5-related disorder	Likely pathogenic; Pathogenic	rs755923873, rs1767805645, rs1769021763	RCV004538684 RCV004528419 RCV004727019

Show/Hide Unknown Diseases (15)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign; Likely benign	rs12201641	RCV005906579
Cervical cancer	Benign; Likely benign	rs12201641	RCV005906580
Cholangiocarcinoma	Benign	rs12199937, rs3757111, rs395996	RCV005914939 RCV005914920 RCV005903893
Colorectal cancer	Benign; Likely benign	rs12201641	RCV005906581
Enhanced S-cone syndrome	Conflicting classifications of pathogenicity	rs142553916	RCV004813072
Familial hypokalemia-hypomagnesemia	Conflicting classifications of pathogenicity	rs142553916	RCV002284193
Focal segmental glomerulosclerosis	Uncertain significance	rs140060360	RCV001580289
Gastric cancer	Benign; Likely benign	rs12201641	RCV005906583
Hepatocellular carcinoma	Benign	rs3757111	RCV005914919
Lung cancer	Benign; Likely benign	rs395996, rs12201641	RCV005903894 RCV005906586
Malignant lymphoma, large B-cell, diffuse	Benign	rs395996	RCV005903892
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs12201641	RCV005906584
Sarcoma	Benign; Likely benign	rs12201641	RCV005906582
Thymoma	Benign	rs12199937	RCV005914938
Uterine carcinosarcoma	Benign; Likely benign	rs12199937, rs12201641	RCV005914937 RCV005906585

Show/Hide Text Mining Associations (118)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenal Hyperplasia Congenital	Associate	19352053
Adult onset citrullinemia type 2	Associate	23112554
Alcoholism	Associate	34857913
Alpha Methylacyl CoA Racemase Deficiency	Stimulate	31951345
Anaplasmosis	Associate	31539395
Arthritis Juvenile	Stimulate	30847869
Biliary Atresia	Associate	6137197
Blast Crisis	Associate	33557955
Bronchiolitis Obliterans Syndrome	Associate	22006860
Bronchopneumonia	Associate	38013276
Carcinoma Hepatocellular	Associate	17589939, 28606415, 34582677, 37904480
Carcinoma Hepatocellular	Stimulate	23613855, 29776350
Carcinoma Non Small Cell Lung	Associate	27126186
Cardiomyopathies	Associate	33631962
Cardiovascular Diseases	Associate	33563221
Cerebral Palsy	Associate	33557955
Chemical and Drug Induced Liver Injury	Associate	31088856, 35266155
Cholestasis	Associate	25518532
Colorectal Neoplasms	Stimulate	33507690
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Associate	19352053
Coronary Artery Disease	Associate	36367831
Cyclic neutropenia	Associate	27877087
Cystic Fibrosis	Associate	27555301
Deglutition Disorders	Associate	28951071
Demyelinating Diseases	Associate	19557856, 20101035
Dengue	Stimulate	26421267
Dermatitis	Associate	31443670
Developmental Disabilities	Associate	33557955
Diabetes Mellitus	Stimulate	23683663
Diabetes Mellitus	Associate	29621783
Diabetes Mellitus Type 2	Associate	31040092, 38232082
Diabetes Mellitus Type 2	Stimulate	31088856
Diabetic Retinopathy	Associate	38232082
Diarrhea	Stimulate	11015403
Drug Related Side Effects and Adverse Reactions	Associate	26948823
Dysentery	Associate	11015403
Dyskinesias	Associate	31443670
Dyslipidemias	Associate	27260124
Dystonia	Associate	33557955
Epileptic Encephalopathy Early Infantile 3	Associate	33557955
Factor VII Deficiency	Associate	20499337
Fatty Liver	Stimulate	23558709
Fatty Liver	Associate	23580007, 33563221
Fatty Liver Alcoholic	Stimulate	34609305
Fibrosis	Associate	19293036, 24436062, 28606415
Fibrosis	Stimulate	32089410, 35220664
Free sialic acid storage disease	Associate	17933575, 34667062, 36662855, 37713976
Gastrointestinal Diseases	Associate	36052305
Genetic Diseases Inborn	Associate	15510212
Glucose Intolerance	Associate	27260124
Glycogen Storage Disease Type II	Associate	28951071
Glycogen Storage Disease Type III	Associate	32772503
Gyrate Atrophy	Stimulate	28716744
Hand Foot and Mouth Disease	Stimulate	27706779
Helicobacter Infections	Stimulate	39312529
Hepatitis B	Associate	19103527, 26899506, 28606415
Hepatitis B	Stimulate	33506937, 35505682
Hepatitis B Chronic	Associate	29375210, 37065191
Hepatitis C	Stimulate	24709894, 37973687
Hepatitis C Chronic	Associate	32089410, 33244199
Hepatolenticular Degeneration	Associate	17461475
Hereditary Myopathy with Early Respiratory Failure	Associate	28951071
Hydrops Fetalis	Associate	34667062
Hypersensitivity Immediate	Associate	31040092
Hypertension	Associate	27260124
Hypertension Portal	Stimulate	38018549
Hypertension Pulmonary	Stimulate	25651489
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	29903529
Inflammation	Associate	37065191
Insulin Resistance	Associate	17967187
Intellectual Disability	Associate	40225164
Intrahepatic Cholestasis of Pregnancy	Stimulate	33225888
Iron Overload	Associate	35895739
Jaundice Chronic Idiopathic	Inhibit	32758197
Jaundice Chronic Idiopathic	Associate	32758197
Leukocytosis	Associate	28441386
Leukoencephalopathies	Associate	35803560
Leukopenia	Associate	28441386
Liver Cirrhosis	Associate	39414159
Liver Diseases	Associate	20797317, 24064641, 33563221
Liver Diseases	Stimulate	27555301, 28809726
Liver Failure	Associate	21663607, 23580007, 29925683, 35841410, 36052305, 36555467
Liver Failure	Stimulate	23683663
Lung Diseases Interstitial	Associate	39908093
Macrophage Activation Syndrome	Stimulate	38147318
Methylmalonic acidemia	Associate	30940196
Motor Neuron Disease	Associate	33557955
Mucocutaneous Lymph Node Syndrome	Stimulate	38114939
Mulibrey Nanism	Associate	35220664
Multiple Myeloma	Associate	38205814
Muscular Diseases	Associate	29095275
Muscular Dystrophies Limb Girdle	Associate	28951071
Muscular Dystrophy Duchenne	Stimulate	26063958
MYH9 Related Disorders	Stimulate	22558294
Neonatal onset citrullinemia type 2	Associate	23112554
Neoplasms	Associate	37990309
Neuroaxonal Dystrophies	Stimulate	32357911
Neurodegenerative Diseases	Associate	36662855
Neutropenia	Associate	27877087
Non alcoholic Fatty Liver Disease	Stimulate	22182810, 29733805, 33957975
Non alcoholic Fatty Liver Disease	Associate	23535911, 23547829, 24488901, 31088856, 34609305, 35069014, 35246921, 35498403, 36743913
Obesity	Associate	18395076
Obesity Metabolically Benign	Associate	33234109
Osteopetrosis	Associate	20499337
Parkinson Disease	Associate	29140481
Pneumonia	Stimulate	35067428
Pre Eclampsia	Associate	36213583
Prostatic Neoplasms	Stimulate	33507690
Renal cell carcinoma 1	Associate	28448618
Respiratory Insufficiency	Stimulate	37407459
Seizures	Associate	33557955
Sepsis	Associate	29925683
Sexual Dysfunction Physiological	Stimulate	20499337
Sialic Acid Storage Disease	Associate	10947946, 15510212, 19557856, 21617927, 28187749, 29875421, 31694657, 36662855, 37713976
Thalassemia	Associate	20044930
Vipoma	Associate	11015403
Warfarin syndrome	Associate	23560034
Weight Loss	Inhibit	39683606

SLC17A5 (solute carrier family 17 member 5)