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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10560
Gene name	Solute carrier family 19 member 2
Gene symbol	SLC19A2
Synonyms (NCBI Gene)	TC1THMD1THT1THTR1TRMA
Chromosome	1
Chromosome location	1q24.2
Summary	This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural de

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28937595	C>A,T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs74315373	G>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs74315374	C>G,T	Pathogenic	Missense variant, stop gained, coding sequence variant, intron variant
rs74315375	C>T	Pathogenic	Stop gained, coding sequence variant
rs121908540	G>A	Pathogenic	Missense variant, coding sequence variant
rs199921604	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs752104654	->T	Pathogenic	Coding sequence variant, intron variant, stop gained
rs761957186	G>A,C	Pathogenic	Intron variant, coding sequence variant, missense variant
rs763099442	AA>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1234256852	A>C	Likely-pathogenic	Splice donor variant, intron variant
rs1401027751	CA>-	Pathogenic	Coding sequence variant, frameshift variant
rs1553211899	C>T	Pathogenic	Coding sequence variant, stop gained
rs1557894839	GAGCGGT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571532822	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571537544	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1571537879	AA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant

382

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miRTarBase ID	miRNA	Experiments	Reference
MIRT023284	hsa-miR-122-5p	Microarray	17612493
MIRT024357	hsa-miR-215-5p	Microarray	19074876
MIRT026524	hsa-miR-192-5p	Microarray	19074876
MIRT027662	hsa-miR-98-5p	Microarray	19088304
MIRT029562	hsa-miR-26b-5p	Sequencing	20371350
MIRT726557	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT726556	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT726555	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT726554	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT1353715	hsa-miR-101	CLIP-seq
MIRT1353716	hsa-miR-1193	CLIP-seq
MIRT1353717	hsa-miR-1202	CLIP-seq
MIRT1353718	hsa-miR-1207-3p	CLIP-seq
MIRT1353719	hsa-miR-1208	CLIP-seq
MIRT1353720	hsa-miR-1272	CLIP-seq
MIRT1353721	hsa-miR-1284	CLIP-seq
MIRT1353722	hsa-miR-1292	CLIP-seq
MIRT1353723	hsa-miR-1297	CLIP-seq
MIRT1353724	hsa-miR-1305	CLIP-seq
MIRT1353725	hsa-miR-1322	CLIP-seq
MIRT1353726	hsa-miR-1323	CLIP-seq
MIRT1353727	hsa-miR-1324	CLIP-seq
MIRT1353728	hsa-miR-141	CLIP-seq
MIRT1353729	hsa-miR-144	CLIP-seq
MIRT1353730	hsa-miR-151-3p	CLIP-seq
MIRT1353731	hsa-miR-15a	CLIP-seq
MIRT1353732	hsa-miR-15b	CLIP-seq
MIRT1353733	hsa-miR-16	CLIP-seq
MIRT1353734	hsa-miR-181a	CLIP-seq
MIRT1353735	hsa-miR-181b	CLIP-seq
MIRT1353736	hsa-miR-181c	CLIP-seq
MIRT1353737	hsa-miR-181d	CLIP-seq
MIRT1353738	hsa-miR-195	CLIP-seq
MIRT1353739	hsa-miR-200a	CLIP-seq
MIRT1353740	hsa-miR-217	CLIP-seq
MIRT1353741	hsa-miR-2392	CLIP-seq
MIRT1353742	hsa-miR-24	CLIP-seq
MIRT1353743	hsa-miR-2681	CLIP-seq
MIRT1353744	hsa-miR-26a	CLIP-seq
MIRT1353745	hsa-miR-26b	CLIP-seq
MIRT1353746	hsa-miR-297	CLIP-seq
MIRT1353747	hsa-miR-3064-3p	CLIP-seq
MIRT1353748	hsa-miR-3065-5p	CLIP-seq
MIRT1353749	hsa-miR-3149	CLIP-seq
MIRT1353750	hsa-miR-34b	CLIP-seq
MIRT1353751	hsa-miR-34c-3p	CLIP-seq
MIRT1353752	hsa-miR-3529	CLIP-seq
MIRT1353753	hsa-miR-3611	CLIP-seq
MIRT1353754	hsa-miR-3646	CLIP-seq
MIRT1353755	hsa-miR-3662	CLIP-seq
MIRT1353756	hsa-miR-379	CLIP-seq
MIRT1353757	hsa-miR-3908	CLIP-seq
MIRT1353758	hsa-miR-3938	CLIP-seq
MIRT1353759	hsa-miR-3942-3p	CLIP-seq
MIRT1353760	hsa-miR-3942-5p	CLIP-seq
MIRT1353761	hsa-miR-3972	CLIP-seq
MIRT1353762	hsa-miR-424	CLIP-seq
MIRT1353763	hsa-miR-4262	CLIP-seq
MIRT1353764	hsa-miR-4272	CLIP-seq
MIRT1353765	hsa-miR-4282	CLIP-seq
MIRT1353766	hsa-miR-4451	CLIP-seq
MIRT1353767	hsa-miR-4457	CLIP-seq
MIRT1353768	hsa-miR-4463	CLIP-seq
MIRT1353769	hsa-miR-4465	CLIP-seq
MIRT1353770	hsa-miR-4471	CLIP-seq
MIRT1353771	hsa-miR-4477a	CLIP-seq
MIRT1353772	hsa-miR-448	CLIP-seq
MIRT1353773	hsa-miR-4495	CLIP-seq
MIRT1353774	hsa-miR-4499	CLIP-seq
MIRT1353775	hsa-miR-4503	CLIP-seq
MIRT1353776	hsa-miR-450b-5p	CLIP-seq
MIRT1353777	hsa-miR-4524	CLIP-seq
MIRT1353778	hsa-miR-4650-3p	CLIP-seq
MIRT1353779	hsa-miR-4678	CLIP-seq
MIRT1353780	hsa-miR-4699-3p	CLIP-seq
MIRT1353781	hsa-miR-4703-5p	CLIP-seq
MIRT1353782	hsa-miR-4731-3p	CLIP-seq
MIRT1353783	hsa-miR-4766-3p	CLIP-seq
MIRT1353784	hsa-miR-4773	CLIP-seq
MIRT1353785	hsa-miR-4795-3p	CLIP-seq
MIRT1353786	hsa-miR-4801	CLIP-seq
MIRT1353787	hsa-miR-493	CLIP-seq
MIRT1353788	hsa-miR-497	CLIP-seq
MIRT1353789	hsa-miR-498	CLIP-seq
MIRT1353790	hsa-miR-503	CLIP-seq
MIRT1353791	hsa-miR-5096	CLIP-seq
MIRT1353792	hsa-miR-514	CLIP-seq
MIRT1353793	hsa-miR-514b-3p	CLIP-seq
MIRT1353794	hsa-miR-520d-5p	CLIP-seq
MIRT1353795	hsa-miR-524-5p	CLIP-seq
MIRT1353796	hsa-miR-543	CLIP-seq
MIRT1353797	hsa-miR-548a-3p	CLIP-seq
MIRT1353798	hsa-miR-548e	CLIP-seq
MIRT1353799	hsa-miR-548f	CLIP-seq
MIRT1353800	hsa-miR-548k	CLIP-seq
MIRT1353801	hsa-miR-548n	CLIP-seq
MIRT1353802	hsa-miR-548o	CLIP-seq
MIRT1353803	hsa-miR-590-3p	CLIP-seq
MIRT1353804	hsa-miR-592	CLIP-seq
MIRT1353805	hsa-miR-597	CLIP-seq
MIRT1353806	hsa-miR-603	CLIP-seq
MIRT1353807	hsa-miR-604	CLIP-seq
MIRT1353808	hsa-miR-616	CLIP-seq
MIRT1353809	hsa-miR-624	CLIP-seq
MIRT1353810	hsa-miR-633	CLIP-seq
MIRT1353811	hsa-miR-642b	CLIP-seq
MIRT1353812	hsa-miR-646	CLIP-seq
MIRT1353813	hsa-miR-647	CLIP-seq
MIRT1353814	hsa-miR-944	CLIP-seq
MIRT1353717	hsa-miR-1202	CLIP-seq
MIRT2104644	hsa-miR-1236	CLIP-seq
MIRT2104645	hsa-miR-1264	CLIP-seq
MIRT1353720	hsa-miR-1272	CLIP-seq
MIRT1353722	hsa-miR-1292	CLIP-seq
MIRT1353723	hsa-miR-1297	CLIP-seq
MIRT1353724	hsa-miR-1305	CLIP-seq
MIRT1353725	hsa-miR-1322	CLIP-seq
MIRT1353726	hsa-miR-1323	CLIP-seq
MIRT2104646	hsa-miR-137	CLIP-seq
MIRT2104647	hsa-miR-149	CLIP-seq
MIRT1353734	hsa-miR-181a	CLIP-seq
MIRT1353735	hsa-miR-181b	CLIP-seq
MIRT1353736	hsa-miR-181c	CLIP-seq
MIRT1353737	hsa-miR-181d	CLIP-seq
MIRT2104648	hsa-miR-2113	CLIP-seq
MIRT1353743	hsa-miR-2681	CLIP-seq
MIRT1353744	hsa-miR-26a	CLIP-seq
MIRT1353745	hsa-miR-26b	CLIP-seq
MIRT1353748	hsa-miR-3065-5p	CLIP-seq
MIRT2104649	hsa-miR-3074-5p	CLIP-seq
MIRT2104650	hsa-miR-3159	CLIP-seq
MIRT2104651	hsa-miR-3160-5p	CLIP-seq
MIRT1353750	hsa-miR-34b	CLIP-seq
MIRT1353751	hsa-miR-34c-3p	CLIP-seq
MIRT1353753	hsa-miR-3611	CLIP-seq
MIRT2104652	hsa-miR-3682-5p	CLIP-seq
MIRT2104653	hsa-miR-370	CLIP-seq
MIRT1353757	hsa-miR-3908	CLIP-seq
MIRT1353758	hsa-miR-3938	CLIP-seq
MIRT1353760	hsa-miR-3942-5p	CLIP-seq
MIRT1353761	hsa-miR-3972	CLIP-seq
MIRT1353763	hsa-miR-4262	CLIP-seq
MIRT2104654	hsa-miR-4268	CLIP-seq
MIRT2104655	hsa-miR-4427	CLIP-seq
MIRT1353767	hsa-miR-4457	CLIP-seq
MIRT1353769	hsa-miR-4465	CLIP-seq
MIRT1353770	hsa-miR-4471	CLIP-seq
MIRT1353777	hsa-miR-4524	CLIP-seq
MIRT1353779	hsa-miR-4678	CLIP-seq
MIRT2104656	hsa-miR-4680-3p	CLIP-seq
MIRT2104657	hsa-miR-4685-5p	CLIP-seq
MIRT2104658	hsa-miR-4690-5p	CLIP-seq
MIRT1353781	hsa-miR-4703-5p	CLIP-seq
MIRT2104659	hsa-miR-4720-3p	CLIP-seq
MIRT2104660	hsa-miR-4729	CLIP-seq
MIRT1353782	hsa-miR-4731-3p	CLIP-seq
MIRT1353783	hsa-miR-4766-3p	CLIP-seq
MIRT2104661	hsa-miR-4799-5p	CLIP-seq
MIRT1353786	hsa-miR-4801	CLIP-seq
MIRT2104662	hsa-miR-4804-3p	CLIP-seq
MIRT1353789	hsa-miR-498	CLIP-seq
MIRT1353796	hsa-miR-543	CLIP-seq
MIRT1353802	hsa-miR-548o	CLIP-seq
MIRT2104663	hsa-miR-579	CLIP-seq
MIRT2104664	hsa-miR-587	CLIP-seq
MIRT1353803	hsa-miR-590-3p	CLIP-seq
MIRT1353807	hsa-miR-604	CLIP-seq
MIRT1353809	hsa-miR-624	CLIP-seq
MIRT1353810	hsa-miR-633	CLIP-seq
MIRT1353813	hsa-miR-647	CLIP-seq
MIRT2104665	hsa-miR-9	CLIP-seq
MIRT2104666	hsa-miR-942	CLIP-seq
MIRT1353715	hsa-miR-101	CLIP-seq
MIRT2329155	hsa-miR-1179	CLIP-seq
MIRT1353717	hsa-miR-1202	CLIP-seq
MIRT1353718	hsa-miR-1207-3p	CLIP-seq
MIRT1353719	hsa-miR-1208	CLIP-seq
MIRT2329156	hsa-miR-1224-3p	CLIP-seq
MIRT2329157	hsa-miR-1233	CLIP-seq
MIRT2104644	hsa-miR-1236	CLIP-seq
MIRT2329158	hsa-miR-1260	CLIP-seq
MIRT2329159	hsa-miR-1260b	CLIP-seq
MIRT2104645	hsa-miR-1264	CLIP-seq
MIRT2329160	hsa-miR-1279	CLIP-seq
MIRT2329161	hsa-miR-1280	CLIP-seq
MIRT1353722	hsa-miR-1292	CLIP-seq
MIRT2329162	hsa-miR-129-3p	CLIP-seq
MIRT1353723	hsa-miR-1297	CLIP-seq
MIRT1353724	hsa-miR-1305	CLIP-seq
MIRT1353726	hsa-miR-1323	CLIP-seq
MIRT2104646	hsa-miR-137	CLIP-seq
MIRT1353728	hsa-miR-141	CLIP-seq
MIRT1353729	hsa-miR-144	CLIP-seq
MIRT2104647	hsa-miR-149	CLIP-seq
MIRT1353730	hsa-miR-151-3p	CLIP-seq
MIRT1353731	hsa-miR-15a	CLIP-seq
MIRT1353732	hsa-miR-15b	CLIP-seq
MIRT1353733	hsa-miR-16	CLIP-seq
MIRT1353734	hsa-miR-181a	CLIP-seq
MIRT1353735	hsa-miR-181b	CLIP-seq
MIRT1353736	hsa-miR-181c	CLIP-seq
MIRT1353737	hsa-miR-181d	CLIP-seq
MIRT2329163	hsa-miR-192	CLIP-seq
MIRT1353738	hsa-miR-195	CLIP-seq
MIRT2329164	hsa-miR-1972	CLIP-seq
MIRT1353739	hsa-miR-200a	CLIP-seq
MIRT2329165	hsa-miR-203	CLIP-seq
MIRT2329166	hsa-miR-204	CLIP-seq
MIRT2329167	hsa-miR-205	CLIP-seq
MIRT2329168	hsa-miR-211	CLIP-seq
MIRT2329169	hsa-miR-2116	CLIP-seq
MIRT2329170	hsa-miR-214	CLIP-seq
MIRT2329171	hsa-miR-215	CLIP-seq
MIRT1353740	hsa-miR-217	CLIP-seq
MIRT2329172	hsa-miR-2467-3p	CLIP-seq
MIRT1353743	hsa-miR-2681	CLIP-seq
MIRT2329173	hsa-miR-2682	CLIP-seq
MIRT1353744	hsa-miR-26a	CLIP-seq
MIRT1353745	hsa-miR-26b	CLIP-seq
MIRT1353746	hsa-miR-297	CLIP-seq
MIRT2329174	hsa-miR-300	CLIP-seq
MIRT1353747	hsa-miR-3064-3p	CLIP-seq
MIRT2329175	hsa-miR-3064-5p	CLIP-seq
MIRT1353748	hsa-miR-3065-5p	CLIP-seq
MIRT2329176	hsa-miR-3126-3p	CLIP-seq
MIRT1353749	hsa-miR-3149	CLIP-seq
MIRT2329177	hsa-miR-3163	CLIP-seq
MIRT2329178	hsa-miR-3185	CLIP-seq
MIRT1353751	hsa-miR-34c-3p	CLIP-seq
MIRT1353752	hsa-miR-3529	CLIP-seq
MIRT2329179	hsa-miR-3591-3p	CLIP-seq
MIRT2329180	hsa-miR-3614-5p	CLIP-seq
MIRT2329181	hsa-miR-3618	CLIP-seq
MIRT2329182	hsa-miR-3619-5p	CLIP-seq
MIRT2329183	hsa-miR-3653	CLIP-seq
MIRT2329184	hsa-miR-3660	CLIP-seq
MIRT2329185	hsa-miR-3667-3p	CLIP-seq
MIRT2329186	hsa-miR-3668	CLIP-seq
MIRT2329187	hsa-miR-3673	CLIP-seq
MIRT2329188	hsa-miR-3678-3p	CLIP-seq
MIRT2329189	hsa-miR-3680	CLIP-seq
MIRT2329190	hsa-miR-3714	CLIP-seq
MIRT2329191	hsa-miR-374c	CLIP-seq
MIRT1353756	hsa-miR-379	CLIP-seq
MIRT2329192	hsa-miR-381	CLIP-seq
MIRT1353758	hsa-miR-3938	CLIP-seq
MIRT1353759	hsa-miR-3942-3p	CLIP-seq
MIRT2329193	hsa-miR-3944-5p	CLIP-seq
MIRT1353761	hsa-miR-3972	CLIP-seq
MIRT1353762	hsa-miR-424	CLIP-seq
MIRT2329194	hsa-miR-4255	CLIP-seq
MIRT1353763	hsa-miR-4262	CLIP-seq
MIRT1353764	hsa-miR-4272	CLIP-seq
MIRT2329195	hsa-miR-4281	CLIP-seq
MIRT2329196	hsa-miR-4291	CLIP-seq
MIRT2329197	hsa-miR-4310	CLIP-seq
MIRT2329198	hsa-miR-432	CLIP-seq
MIRT2329199	hsa-miR-4421	CLIP-seq
MIRT2329200	hsa-miR-4446-5p	CLIP-seq
MIRT1353766	hsa-miR-4451	CLIP-seq
MIRT2329201	hsa-miR-4452	CLIP-seq
MIRT1353767	hsa-miR-4457	CLIP-seq
MIRT1353768	hsa-miR-4463	CLIP-seq
MIRT1353769	hsa-miR-4465	CLIP-seq
MIRT1353770	hsa-miR-4471	CLIP-seq
MIRT1353771	hsa-miR-4477a	CLIP-seq
MIRT1353772	hsa-miR-448	CLIP-seq
MIRT1353774	hsa-miR-4499	CLIP-seq
MIRT2329202	hsa-miR-449c	CLIP-seq
MIRT2329203	hsa-miR-4501	CLIP-seq
MIRT2329204	hsa-miR-4514	CLIP-seq
MIRT1353777	hsa-miR-4524	CLIP-seq
MIRT2329205	hsa-miR-4526	CLIP-seq
MIRT2329206	hsa-miR-4540	CLIP-seq
MIRT2329207	hsa-miR-4639-5p	CLIP-seq
MIRT2329208	hsa-miR-4645-5p	CLIP-seq
MIRT1353778	hsa-miR-4650-3p	CLIP-seq
MIRT2329209	hsa-miR-4661-5p	CLIP-seq
MIRT2329210	hsa-miR-4666-3p	CLIP-seq
MIRT2329211	hsa-miR-4673	CLIP-seq
MIRT2329212	hsa-miR-4677-5p	CLIP-seq
MIRT2104657	hsa-miR-4685-5p	CLIP-seq
MIRT2104658	hsa-miR-4690-5p	CLIP-seq
MIRT2329213	hsa-miR-4692	CLIP-seq
MIRT1353780	hsa-miR-4699-3p	CLIP-seq
MIRT2104660	hsa-miR-4729	CLIP-seq
MIRT1353782	hsa-miR-4731-3p	CLIP-seq
MIRT2329214	hsa-miR-4733-3p	CLIP-seq
MIRT2329215	hsa-miR-4755-5p	CLIP-seq
MIRT2329216	hsa-miR-4757-5p	CLIP-seq
MIRT1353784	hsa-miR-4773	CLIP-seq
MIRT2329217	hsa-miR-4777-5p	CLIP-seq
MIRT2329218	hsa-miR-4794	CLIP-seq
MIRT1353785	hsa-miR-4795-3p	CLIP-seq
MIRT1353786	hsa-miR-4801	CLIP-seq
MIRT1353788	hsa-miR-497	CLIP-seq
MIRT1353789	hsa-miR-498	CLIP-seq
MIRT1353790	hsa-miR-503	CLIP-seq
MIRT1353791	hsa-miR-5096	CLIP-seq
MIRT1353794	hsa-miR-520d-5p	CLIP-seq
MIRT1353795	hsa-miR-524-5p	CLIP-seq
MIRT1353796	hsa-miR-543	CLIP-seq
MIRT1353797	hsa-miR-548a-3p	CLIP-seq
MIRT2329219	hsa-miR-548an	CLIP-seq
MIRT2329220	hsa-miR-548c-3p	CLIP-seq
MIRT1353798	hsa-miR-548e	CLIP-seq
MIRT1353799	hsa-miR-548f	CLIP-seq
MIRT1353800	hsa-miR-548k	CLIP-seq
MIRT1353801	hsa-miR-548n	CLIP-seq
MIRT1353802	hsa-miR-548o	CLIP-seq
MIRT2329221	hsa-miR-548u	CLIP-seq
MIRT2329222	hsa-miR-562	CLIP-seq
MIRT2104663	hsa-miR-579	CLIP-seq
MIRT1353803	hsa-miR-590-3p	CLIP-seq
MIRT1353804	hsa-miR-592	CLIP-seq
MIRT1353805	hsa-miR-597	CLIP-seq
MIRT1353806	hsa-miR-603	CLIP-seq
MIRT1353808	hsa-miR-616	CLIP-seq
MIRT2329223	hsa-miR-623	CLIP-seq
MIRT1353809	hsa-miR-624	CLIP-seq
MIRT1353810	hsa-miR-633	CLIP-seq
MIRT1353811	hsa-miR-642b	CLIP-seq
MIRT1353812	hsa-miR-646	CLIP-seq
MIRT2329224	hsa-miR-654-3p	CLIP-seq
MIRT2329225	hsa-miR-655	CLIP-seq
MIRT2329226	hsa-miR-761	CLIP-seq
MIRT2104665	hsa-miR-9	CLIP-seq
MIRT2329227	hsa-miR-922	CLIP-seq
MIRT2329228	hsa-miR-934	CLIP-seq
MIRT1353814	hsa-miR-944	CLIP-seq
MIRT2104644	hsa-miR-1236	CLIP-seq
MIRT2104645	hsa-miR-1264	CLIP-seq
MIRT1353726	hsa-miR-1323	CLIP-seq
MIRT2104651	hsa-miR-3160-5p	CLIP-seq
MIRT1353777	hsa-miR-4524	CLIP-seq
MIRT2104658	hsa-miR-4690-5p	CLIP-seq
MIRT2104660	hsa-miR-4729	CLIP-seq
MIRT1353802	hsa-miR-548o	CLIP-seq
MIRT2104663	hsa-miR-579	CLIP-seq
MIRT2329155	hsa-miR-1179	CLIP-seq
MIRT1353731	hsa-miR-15a	CLIP-seq
MIRT1353732	hsa-miR-15b	CLIP-seq
MIRT1353733	hsa-miR-16	CLIP-seq
MIRT1353738	hsa-miR-195	CLIP-seq
MIRT1353752	hsa-miR-3529	CLIP-seq
MIRT1353756	hsa-miR-379	CLIP-seq
MIRT1353762	hsa-miR-424	CLIP-seq
MIRT2329196	hsa-miR-4291	CLIP-seq
MIRT2329197	hsa-miR-4310	CLIP-seq
MIRT1353766	hsa-miR-4451	CLIP-seq
MIRT1353777	hsa-miR-4524	CLIP-seq
MIRT1353778	hsa-miR-4650-3p	CLIP-seq
MIRT2329209	hsa-miR-4661-5p	CLIP-seq
MIRT2440437	hsa-miR-4701-5p	CLIP-seq
MIRT1353788	hsa-miR-497	CLIP-seq
MIRT1353790	hsa-miR-503	CLIP-seq
MIRT2440438	hsa-miR-588	CLIP-seq
MIRT1353812	hsa-miR-646	CLIP-seq
MIRT1353716	hsa-miR-1193	CLIP-seq
MIRT2329166	hsa-miR-204	CLIP-seq
MIRT2329168	hsa-miR-211	CLIP-seq
MIRT2329169	hsa-miR-2116	CLIP-seq
MIRT1353741	hsa-miR-2392	CLIP-seq
MIRT1353751	hsa-miR-34c-3p	CLIP-seq
MIRT1353754	hsa-miR-3646	CLIP-seq
MIRT1353755	hsa-miR-3662	CLIP-seq
MIRT2329185	hsa-miR-3667-3p	CLIP-seq
MIRT2329194	hsa-miR-4255	CLIP-seq
MIRT2329200	hsa-miR-4446-5p	CLIP-seq
MIRT1353773	hsa-miR-4495	CLIP-seq
MIRT2329212	hsa-miR-4677-5p	CLIP-seq
MIRT2329215	hsa-miR-4755-5p	CLIP-seq
MIRT1353787	hsa-miR-493	CLIP-seq
MIRT2329223	hsa-miR-623	CLIP-seq
MIRT1353810	hsa-miR-633	CLIP-seq
MIRT2104646	hsa-miR-137	CLIP-seq
MIRT2690906	hsa-miR-1827	CLIP-seq
MIRT1353747	hsa-miR-3064-3p	CLIP-seq
MIRT2329201	hsa-miR-4452	CLIP-seq
MIRT2104657	hsa-miR-4685-5p	CLIP-seq
MIRT1353784	hsa-miR-4773	CLIP-seq
MIRT2104664	hsa-miR-587	CLIP-seq

Show/Hide all (1)

Transcription factor	Regulation	Reference
SP1	Unknown	24525018

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21836059, 33961781
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	21836059
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007283	Process	Spermatogenesis	IEA
GO:0008517	Function	Folic acid transmembrane transporter activity	NAS	10542220
GO:0009229	Process	Thiamine diphosphate biosynthetic process	IEA
GO:0015234	Function	Thiamine transmembrane transporter activity	IBA
GO:0015234	Function	Thiamine transmembrane transporter activity	IDA	21836059
GO:0015234	Function	Thiamine transmembrane transporter activity	IEA
GO:0015234	Function	Thiamine transmembrane transporter activity	ISS
GO:0015234	Function	Thiamine transmembrane transporter activity	TAS	10542220
GO:0015884	Process	Folic acid transport	IEA
GO:0015888	Process	Thiamine transport	IBA
GO:0015888	Process	Thiamine transport	IDA	10542220, 33008889, 35512554
GO:0015888	Process	Thiamine transport	IEA
GO:0015888	Process	Thiamine transport	IMP	10391222, 35724964
GO:0015888	Process	Thiamine transport	NAS	10542220
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10542220
GO:0031923	Process	Pyridoxine transport	IDA	33008889, 35512554
GO:0031923	Process	Pyridoxine transport	IEA
GO:0042723	Process	Thiamine-containing compound metabolic process	TAS
GO:0051180	Process	Vitamin transport	IEA
GO:0055085	Process	Transmembrane transport	IBA
GO:0071934	Process	Thiamine transmembrane transport	IEA
GO:0071934	Process	Thiamine transmembrane transport	ISS
GO:0090482	Function	Vitamin transmembrane transporter activity	IEA

MIM	HGNC	e!Ensembl
603941	10938	ENSG00000117479

O60779

Protein name

Thiamine transporter 1 (ThTr-1) (ThTr1) (Solute carrier family 19 member 2) (Thiamine carrier 1) (TC1)

Protein function

High-affinity transporter for the intake of thiamine (PubMed:10391222, PubMed:10542220, PubMed:21836059, PubMed:33008889, PubMed:35512554, PubMed:35724964). Mediates H(+)-dependent pyridoxine transport (PubMed:33008889, PubMed:35512554, PubMed:3

PDB

8Z7Z , 8Z80

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01770	Folate_carrier	28 → 458	Reduced folate carrier	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung. {ECO:0000269|PubMed:10391222, ECO:0000269|PubMed:10542220}.

Sequence

MDVPGPVSRRAAAAAATVLLRTARVRRECWFLPTALLCAYGFFASLRPSEPFLTPYLLGP
DKNLTEREVFNEIYPVWTYSYLVLLFPVFLATDYLRYKPVVLLQGLSLIVTWFMLLYAQG
LLAIQFLEFFYGIATATEIAYYSYIYSVVDLGMYQKVTSYCRSATLVGFTVGSVLGQILV
SVAGWSLFSLNVISLTCVSVAFAVAWFLPMPQKSLFFHHIPSTCQRVNGIKVQNGGIVTD
TPASNHLPGWEDIESKIPLNMEEPPVEEPEPKPDRLLVLKVLWNDFLMCYSSRPLLCWSV
WWALSTCGYFQVVNYTQGLWEKVMPSRYAAIYNGGVEAVSTLLGAVAVFAVGYIKISWST
WGEMTLSLFSLLIAAAVYIMDTVGNIWVCYASYVVFRIIYMLLITIATFQIAANLSMERY
ALVFGVNTFIALALQTLLTLIVVDASGLGLEITTQFLIYASYFALIAVVFLASGAVSVMK
KCRKLEDPQSSSQVTTS

Sequence length

497

Interactions

View interactions

	KEGG		Reactome
	Vitamin digestion and absorption		Vitamin B1 (thiamin) metabolism

186

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Ear malformation	Pathogenic	rs1658342879	RCV001814323
Lung cancer	Pathogenic	rs768890368	RCV005930671
Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness	Pathogenic; Likely pathogenic	rs1658342879, rs768890368, rs778795434, rs74315373, rs1571537544, rs28937595, rs74315374, rs1571532822, rs1401027751, rs752104654, rs1571537879, rs74315375, rs867811009, rs371383730, rs1368720035 View all (7 more)	RCV001534618 RCV004596567 RCV005050645 RCV000006319 RCV000006320 RCV000006321 RCV000006322 RCV000006323 RCV000006324 RCV000006325 RCV000006326 RCV000006327 RCV003338197 RCV005051334 RCV005051335 RCV005051406 RCV000762862 RCV000583923 RCV000582702 RCV002267620 RCV000735816 RCV000735817
Sensorineural hearing loss disorder	Pathogenic	rs1658539563	RCV005420512

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Likely benign	rs536167730	RCV005934972
Monogenic diabetes	Conflicting classifications of pathogenicity; Uncertain significance	rs75099879, rs61734338, rs756708244, rs1231702573, rs867455033	RCV000445536 RCV000445482 RCV000664077 RCV001174380 RCV001174381
SLC19A2-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	rs776444312, rs61049753, rs558610619, rs2526257739, rs200813632, rs146835764	RCV003946010 RCV003975044 RCV003964611 RCV003983662 RCV003942404 RCV003970616
Thiamine-responsive megaloblastic anemia	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs2072757, rs3737682, rs61049753, rs17847484, rs886045522, rs886045523, rs886045525, rs757466309, rs374046494, rs886045529, rs75099879, rs755410874, rs145285893, rs886045533, rs745730912 View all (24 more)	RCV000262382 RCV000406183 RCV000299527 RCV000339438 RCV000374889 RCV000350338 RCV000361586 RCV000356044 RCV000286824 RCV000273956 RCV000325732 RCV000269747 RCV000385602 RCV000392331 RCV000362996 RCV000323548 RCV000265221 RCV000405506 RCV000287472 RCV000376986 RCV000278045 RCV000405384 RCV000320836 RCV000352008 RCV000306344 RCV000389829 RCV000303536 RCV000327336 RCV000404561 RCV000360533 RCV000310679 RCV000372263 RCV000316436 RCV000333435 RCV000293447 RCV000331390 RCV000382662 RCV000284049 RCV000349355 RCV000509304

Show/Hide Text Mining Associations (37)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alstrom Syndrome	Associate	28432734
Anemia	Associate	23454484, 24072090
Anemia Megaloblastic	Associate	10978358, 17463047, 19643445, 28504500, 30833467, 31338833, 33571483, 33649974, 39467528
Anemia Megaloblastic	Stimulate	9399900
Anemia Sideroblastic	Associate	38360212
Cerebral Infarction	Associate	31296181
Deafness	Associate	11380424, 31338833, 31638924, 9399900
Deglutition Disorders	Associate	31638924
Diabetes Mellitus	Associate	11380424, 23454484, 24072090, 26839896, 29969779, 30833467, 31276222, 31338833, 33498041, 33571483, 39467528
Diabetes Mellitus	Stimulate	9399900
Diabetes Mellitus Transient Neonatal 1	Associate	33498041
Diabetes Mellitus Type 1	Associate	31276222, 31951336, 31951337, 33571483
Diabetes Mellitus Type 2	Associate	31638168
Distal myopathy Nonaka type	Associate	33571483
Escherichia coli Infections	Associate	19628653
Genetic Diseases Inborn	Associate	30833467, 31144472
Hearing Loss	Associate	23454484, 24072090
Hearing Loss Sensorineural	Associate	29969779, 30833467, 33571483, 39467528
Infections	Associate	31638924
Iron Deficiencies	Associate	38360212
Maturity Onset Diabetes of the Young Type 2	Associate	30833467
Mitochondrial Diseases	Associate	30833467
Multiple Organ Failure	Associate	31638924
Neoplasms	Associate	25788274
Optic Atrophy	Associate	30511554
Osteoarthritis	Associate	38292759
Osteoporosis	Associate	32498429
Osteoporotic Fractures	Associate	32498429
Retinal Degeneration	Associate	10978358
Sepsis	Associate	31638924
Thiamine Deficiency	Associate	10978358, 9399900
Thiamine responsive megaloblastic anemia syndrome	Associate	10978358, 11380424, 12065289, 17463047, 19643445, 23454484, 24072090, 28432734, 28504500, 29903777, 29969779, 30511554, 31144472, 31296181, 31638924 View all (5 more)
Thrombocytopenia	Associate	31951336, 31951337
Ventricular Premature Complexes	Associate	31296181
Vision Disorders	Associate	29969779
Wolfram Syndrome	Associate	28432734
Wolfram Syndrome 2	Associate	28432734

SLC19A2 (solute carrier family 19 member 2)