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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5172
Gene name Gene Name - the full gene name approved by the HGNC.	Solute carrier family 26 member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SLC26A4
Synonyms (NCBI Gene) Gene synonyms aliases	DFNB4, EVA, PDS, TDH2B
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7q22.3
Summary Summary of gene provided in NCBI Entrez Gene.	Mutations in this gene are associated with Pendred syndrome, the most common form of syndromic deafness, an autosomal-recessive disease. It is highly homologous to the SLC26A3 gene; they have similar genomic structures and this gene is located 3` of the S

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28939086	A>C,G	Pathogenic, affects	Missense variant, coding sequence variant
rs80338848	T>C	Pathogenic	Missense variant, coding sequence variant
rs80338849	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs111033193	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs111033199	G>A,C,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033212	T>A,C	Pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs111033220	C>A,G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033242	C>G	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs111033244	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033245	G>T	Likely-pathogenic	Splice donor variant
rs111033254	T>C	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033256	T>A	Affects, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033257	G>A	Affects, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033303	G>T	Pathogenic	Missense variant, coding sequence variant
rs111033305	G>A,C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033306	TGC>-	Pathogenic, likely-pathogenic	Intron variant, genic downstream transcript variant, inframe deletion, coding sequence variant, downstream transcript variant
rs111033307	T>G	Affects, pathogenic	Missense variant, intron variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs111033308	G>A,C	Affects, pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033309	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033311	G>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, intron variant, splice acceptor variant, downstream transcript variant
rs111033312	G>A,C,T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs111033313	A>G	Pathogenic	Splice acceptor variant
rs111033314	A>G,T	Pathogenic	Intron variant
rs111033316	A>G	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033317	->C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs111033318	T>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs111033348	C>T	Affects, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs111033380	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs111033400	TC>A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs111033407	->AGTC	Pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, splice acceptor variant, downstream transcript variant
rs111033454	G>A	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs114473792	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121908360	T>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908361	A>G,T	Affects, pathogenic, likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs121908362	A>G	Pathogenic-likely-pathogenic, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908363	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs121908364	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908365	T>A,C	Affects, likely-pathogenic	Missense variant, coding sequence variant
rs121908366	C>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs138462416	G>A,T	Other, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs142498437	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs142656144	C>A,T	Pathogenic	Synonymous variant, genic downstream transcript variant, stop gained, coding sequence variant
rs142723249	G>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs145254330	C>T	Other, likely-pathogenic, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs146269871	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, coding sequence variant, missense variant
rs146281367	G>A,C,T	Likely-pathogenic, affects	Coding sequence variant, missense variant
rs147952620	C>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs192366176	G>A	Pathogenic	Genic downstream transcript variant, intron variant
rs200455203	G>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs200511789	A>C	Pathogenic, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs201562855	A>T	Pathogenic	Missense variant, coding sequence variant
rs201660407	A>C,G,T	Likely-pathogenic, affects	Missense variant, coding sequence variant
rs201905280	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs202033028	A>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, coding sequence variant
rs368119540	G>A,C,T	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs375540945	T>A,C	Affects	Missense variant, genic downstream transcript variant, intron variant, coding sequence variant, downstream transcript variant
rs376653349	G>C	Pathogenic	Splice donor variant, genic downstream transcript variant, intron variant, downstream transcript variant
rs397516413	T>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs397516414	G>A	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs397516416	C>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, downstream transcript variant, stop gained
rs397516417	G>-	Pathogenic	Genic downstream transcript variant, intron variant, coding sequence variant, downstream transcript variant, splice donor variant
rs397516418	T>G	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant, downstream transcript variant
rs397516421	G>A	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs397516423	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs397516424	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs397516427	G>T	Likely-pathogenic, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs397516428	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs397516432	T>C	Pathogenic	Splice donor variant
rs431905486	->A	Pathogenic	Frameshift variant, coding sequence variant
rs483353048	A>C,T	Likely-pathogenic	Intron variant
rs541538556	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs542079779	G>A	Pathogenic-likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs542620119	G>C	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs727503428	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs727503430	G>A	Pathogenic, likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs727503431	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs727505080	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs727505088	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs727505230	T>C	Likely-pathogenic	Intron variant, genic downstream transcript variant
rs746427774	A>-,AA	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs747076316	C>A,G,T	Likely-pathogenic	Stop gained, coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs747431002	T>C	Uncertain-significance, affects	Coding sequence variant, missense variant
rs749013429	C>A,T	Likely-benign, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, synonymous variant
rs750834241	T>C	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs752807925	C>T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs756076960	TGTA>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs756272252	G>C,T	Uncertain-significance, affects	Coding sequence variant, missense variant
rs757820624	A>G	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs759414956	G>A,C,T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, splice acceptor variant
rs759683649	G>A,T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs760040670	G>T	Affects, uncertain-significance	Coding sequence variant, missense variant
rs760413427	A>G	Affects	Coding sequence variant, missense variant
rs763006761	A>G	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs765884316	A>G	Pathogenic	Intron variant
rs766572560	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs767255075	T>C,G	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs768245266	->G	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant
rs768471577	A>G	Likely-pathogenic	Coding sequence variant, downstream transcript variant, intron variant, genic downstream transcript variant, missense variant
rs773861155	A>G,T	Pathogenic	Coding sequence variant, missense variant
rs777008062	TCT>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs777333979	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs778901860	A>T	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204450	->C	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs786204474	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs786204502	G>A	Likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204523	T>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs786204600	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786204601	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs786204730	->T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs786204739	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs876657722	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs876657723	A>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886043058	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs886044696	TTT>AA	Pathogenic	Coding sequence variant, frameshift variant
rs912147281	T>C	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs918684449	A>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs984967571	C>T	Affects	Coding sequence variant, missense variant
rs1045933779	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1057516243	G>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057516354	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516535	TCAGTTGTGAGT>-	Likely-pathogenic	Splice donor variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1057516636	C>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516678	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516717	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1057516796	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1057516881	T>A	Pathogenic	Splice donor variant
rs1057516988	G>A	Pathogenic	Splice acceptor variant
rs1057517000	G>A,T	Likely-pathogenic	Splice donor variant
rs1057517042	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057517161	T>A	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1057517246	GGAATTAA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517298	G>T	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1057517303	T>A,C	Pathogenic	Stop gained, missense variant, genic downstream transcript variant, coding sequence variant
rs1057518006	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520369	T>C,G	Likely-pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1057521147	G>A	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1057524176	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1060499807	G>-	Pathogenic	Splice donor variant, coding sequence variant
rs1060499808	T>C	Affects, pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1205712508	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1241745103	G>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1275009555	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1284633493	A>G,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained, intron variant, downstream transcript variant, missense variant
rs1293971731	G>C,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1298217152	->TA	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1374999656	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1399914687	T>C,G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1413121429	A>C	Likely-pathogenic	Downstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1455597424	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554354787	T>C	Affects, likely-pathogenic	Coding sequence variant, missense variant
rs1554354801	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554355011	G>A	Pathogenic	Splice acceptor variant
rs1554357206	ATCTTTTGTTTTATTTCAGACGATAATTGCTAC>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, intron variant
rs1554357231	G>T	Pathogenic	Coding sequence variant, stop gained
rs1554358720	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1554359670	C>A	Affects, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs1554359693	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained, downstream transcript variant
rs1554360358	A>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1554360678	->T	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554360707	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554360816	TAAGTAACTTGACATTT>-	Likely-pathogenic	Genic downstream transcript variant, intron variant
rs1554360841	AG>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554361584	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554361624	T>A	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554362735	->GCTGG	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554362815	T>C	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1562822565	C>T	Pathogenic	Coding sequence variant, missense variant
rs1562835391	C>G	Pathogenic	Downstream transcript variant, intron variant, genic downstream transcript variant
rs1562835480	A>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, intron variant, stop gained
rs1562835515	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, intron variant, frameshift variant
rs1584304377	G>T	Affects	Missense variant, coding sequence variant
rs1584306754	AG>C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1584317722	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1584325160	C>T	Affects	Missense variant, coding sequence variant
rs1584331188	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1584337134	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1584337228	G>A	Affects	Missense variant, coding sequence variant, genic downstream transcript variant
rs1584337274	C>T	Affects	Missense variant, coding sequence variant, genic downstream transcript variant
rs1584344549	T>C	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1584344687	->G	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant

Show/Hide all(193)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023097	hsa-miR-124-3p	Microarray	18668037
MIRT030168	hsa-miR-26b-5p	Microarray	19088304
MIRT1357811	hsa-miR-103a	CLIP-seq
MIRT1357812	hsa-miR-106a	CLIP-seq
MIRT1357813	hsa-miR-106b	CLIP-seq
MIRT1357814	hsa-miR-107	CLIP-seq
MIRT1357815	hsa-miR-1193	CLIP-seq
MIRT1357816	hsa-miR-122	CLIP-seq
MIRT1357817	hsa-miR-1224-5p	CLIP-seq
MIRT1357818	hsa-miR-1234	CLIP-seq
MIRT1357819	hsa-miR-1281	CLIP-seq
MIRT1357820	hsa-miR-129-5p	CLIP-seq
MIRT1357821	hsa-miR-139-3p	CLIP-seq
MIRT1357822	hsa-miR-150	CLIP-seq
MIRT1357823	hsa-miR-17	CLIP-seq
MIRT1357824	hsa-miR-181a	CLIP-seq
MIRT1357825	hsa-miR-181b	CLIP-seq
MIRT1357826	hsa-miR-181c	CLIP-seq
MIRT1357827	hsa-miR-181d	CLIP-seq
MIRT1357828	hsa-miR-1827	CLIP-seq
MIRT1357829	hsa-miR-1912	CLIP-seq
MIRT1357830	hsa-miR-1976	CLIP-seq
MIRT1357831	hsa-miR-20a	CLIP-seq
MIRT1357832	hsa-miR-20b	CLIP-seq
MIRT1357833	hsa-miR-214	CLIP-seq
MIRT1357834	hsa-miR-2276	CLIP-seq
MIRT1357835	hsa-miR-2392	CLIP-seq
MIRT1357836	hsa-miR-302a	CLIP-seq
MIRT1357837	hsa-miR-302b	CLIP-seq
MIRT1357838	hsa-miR-302c	CLIP-seq
MIRT1357839	hsa-miR-302d	CLIP-seq
MIRT1357840	hsa-miR-302e	CLIP-seq
MIRT1357841	hsa-miR-3135b	CLIP-seq
MIRT1357842	hsa-miR-3137	CLIP-seq
MIRT1357843	hsa-miR-3171	CLIP-seq
MIRT1357844	hsa-miR-3176	CLIP-seq
MIRT1357845	hsa-miR-3194-3p	CLIP-seq
MIRT1357846	hsa-miR-331-5p	CLIP-seq
MIRT1357847	hsa-miR-33a	CLIP-seq
MIRT1357848	hsa-miR-33b	CLIP-seq
MIRT1357849	hsa-miR-3619-5p	CLIP-seq
MIRT1357850	hsa-miR-3646	CLIP-seq
MIRT1357851	hsa-miR-3647-3p	CLIP-seq
MIRT1357852	hsa-miR-3652	CLIP-seq
MIRT1357853	hsa-miR-3662	CLIP-seq
MIRT1357854	hsa-miR-3668	CLIP-seq
MIRT1357855	hsa-miR-3672	CLIP-seq
MIRT1357856	hsa-miR-3686	CLIP-seq
MIRT1357857	hsa-miR-372	CLIP-seq
MIRT1357858	hsa-miR-373	CLIP-seq
MIRT1357859	hsa-miR-374a	CLIP-seq
MIRT1357860	hsa-miR-374b	CLIP-seq
MIRT1357861	hsa-miR-3915	CLIP-seq
MIRT1357862	hsa-miR-3922-3p	CLIP-seq
MIRT1357863	hsa-miR-3928	CLIP-seq
MIRT1357864	hsa-miR-3935	CLIP-seq
MIRT1357865	hsa-miR-411	CLIP-seq
MIRT1357866	hsa-miR-4262	CLIP-seq
MIRT1357867	hsa-miR-4279	CLIP-seq
MIRT1357868	hsa-miR-4284	CLIP-seq
MIRT1357869	hsa-miR-4291	CLIP-seq
MIRT1357870	hsa-miR-4294	CLIP-seq
MIRT1357871	hsa-miR-431	CLIP-seq
MIRT1357872	hsa-miR-4310	CLIP-seq
MIRT1357873	hsa-miR-4430	CLIP-seq
MIRT1357874	hsa-miR-4438	CLIP-seq
MIRT1357875	hsa-miR-4528	CLIP-seq
MIRT1357876	hsa-miR-4532	CLIP-seq
MIRT1357877	hsa-miR-4638-5p	CLIP-seq
MIRT1357878	hsa-miR-4689	CLIP-seq
MIRT1357879	hsa-miR-4716-5p	CLIP-seq
MIRT1357880	hsa-miR-4719	CLIP-seq
MIRT1357881	hsa-miR-4722-3p	CLIP-seq
MIRT1357882	hsa-miR-4731-5p	CLIP-seq
MIRT1357883	hsa-miR-483-5p	CLIP-seq
MIRT1357884	hsa-miR-500a	CLIP-seq
MIRT1357885	hsa-miR-503	CLIP-seq
MIRT1357886	hsa-miR-5095	CLIP-seq
MIRT1357887	hsa-miR-512-3p	CLIP-seq
MIRT1357888	hsa-miR-519d	CLIP-seq
MIRT1357889	hsa-miR-520a-3p	CLIP-seq
MIRT1357890	hsa-miR-520b	CLIP-seq
MIRT1357891	hsa-miR-520c-3p	CLIP-seq
MIRT1357892	hsa-miR-520d-3p	CLIP-seq
MIRT1357893	hsa-miR-520d-5p	CLIP-seq
MIRT1357894	hsa-miR-520e	CLIP-seq
MIRT1357895	hsa-miR-520g	CLIP-seq
MIRT1357896	hsa-miR-520h	CLIP-seq
MIRT1357897	hsa-miR-524-5p	CLIP-seq
MIRT1357898	hsa-miR-564	CLIP-seq
MIRT1357899	hsa-miR-586	CLIP-seq
MIRT1357900	hsa-miR-640	CLIP-seq
MIRT1357901	hsa-miR-761	CLIP-seq
MIRT1357902	hsa-miR-922	CLIP-seq
MIRT1357903	hsa-miR-924	CLIP-seq
MIRT1357904	hsa-miR-93	CLIP-seq
MIRT1357815	hsa-miR-1193	CLIP-seq
MIRT1357830	hsa-miR-1976	CLIP-seq
MIRT1357835	hsa-miR-2392	CLIP-seq
MIRT1922981	hsa-miR-4662a-5p	CLIP-seq
MIRT1922982	hsa-miR-4676-5p	CLIP-seq
MIRT1357879	hsa-miR-4716-5p	CLIP-seq
MIRT1922983	hsa-miR-575	CLIP-seq
MIRT1357900	hsa-miR-640	CLIP-seq
MIRT1357812	hsa-miR-106a	CLIP-seq
MIRT1357813	hsa-miR-106b	CLIP-seq
MIRT1357816	hsa-miR-122	CLIP-seq
MIRT1357818	hsa-miR-1234	CLIP-seq
MIRT1357820	hsa-miR-129-5p	CLIP-seq
MIRT1357821	hsa-miR-139-3p	CLIP-seq
MIRT1357822	hsa-miR-150	CLIP-seq
MIRT1357823	hsa-miR-17	CLIP-seq
MIRT1357831	hsa-miR-20a	CLIP-seq
MIRT1357832	hsa-miR-20b	CLIP-seq
MIRT1357834	hsa-miR-2276	CLIP-seq
MIRT1357836	hsa-miR-302a	CLIP-seq
MIRT1357837	hsa-miR-302b	CLIP-seq
MIRT1357838	hsa-miR-302c	CLIP-seq
MIRT1357839	hsa-miR-302d	CLIP-seq
MIRT1357840	hsa-miR-302e	CLIP-seq
MIRT1357841	hsa-miR-3135b	CLIP-seq
MIRT1357845	hsa-miR-3194-3p	CLIP-seq
MIRT2106008	hsa-miR-3613-3p	CLIP-seq
MIRT1357852	hsa-miR-3652	CLIP-seq
MIRT1357855	hsa-miR-3672	CLIP-seq
MIRT1357857	hsa-miR-372	CLIP-seq
MIRT1357858	hsa-miR-373	CLIP-seq
MIRT1357870	hsa-miR-4294	CLIP-seq
MIRT1357871	hsa-miR-431	CLIP-seq
MIRT1357873	hsa-miR-4430	CLIP-seq
MIRT1357874	hsa-miR-4438	CLIP-seq
MIRT2106009	hsa-miR-4696	CLIP-seq
MIRT2106010	hsa-miR-4704-3p	CLIP-seq
MIRT1357882	hsa-miR-4731-5p	CLIP-seq
MIRT2106011	hsa-miR-4775	CLIP-seq
MIRT1357886	hsa-miR-5095	CLIP-seq
MIRT2106012	hsa-miR-511	CLIP-seq
MIRT1357887	hsa-miR-512-3p	CLIP-seq
MIRT1357888	hsa-miR-519d	CLIP-seq
MIRT1357889	hsa-miR-520a-3p	CLIP-seq
MIRT1357890	hsa-miR-520b	CLIP-seq
MIRT1357891	hsa-miR-520c-3p	CLIP-seq
MIRT1357892	hsa-miR-520d-3p	CLIP-seq
MIRT1357894	hsa-miR-520e	CLIP-seq
MIRT1357895	hsa-miR-520g	CLIP-seq
MIRT1357896	hsa-miR-520h	CLIP-seq
MIRT2106013	hsa-miR-548a-3p	CLIP-seq
MIRT2106014	hsa-miR-548ae	CLIP-seq
MIRT2106015	hsa-miR-548aj	CLIP-seq
MIRT2106016	hsa-miR-548am	CLIP-seq
MIRT2106017	hsa-miR-548e	CLIP-seq
MIRT2106018	hsa-miR-548f	CLIP-seq
MIRT2106019	hsa-miR-548x	CLIP-seq
MIRT1357898	hsa-miR-564	CLIP-seq
MIRT1357900	hsa-miR-640	CLIP-seq
MIRT1357903	hsa-miR-924	CLIP-seq
MIRT1357904	hsa-miR-93	CLIP-seq
MIRT1357816	hsa-miR-122	CLIP-seq
MIRT1357818	hsa-miR-1234	CLIP-seq
MIRT1357822	hsa-miR-150	CLIP-seq
MIRT1357830	hsa-miR-1976	CLIP-seq
MIRT1357834	hsa-miR-2276	CLIP-seq
MIRT1357841	hsa-miR-3135b	CLIP-seq
MIRT1357845	hsa-miR-3194-3p	CLIP-seq
MIRT1357852	hsa-miR-3652	CLIP-seq
MIRT2330353	hsa-miR-4274	CLIP-seq
MIRT1357870	hsa-miR-4294	CLIP-seq
MIRT1357871	hsa-miR-431	CLIP-seq
MIRT1357873	hsa-miR-4430	CLIP-seq
MIRT2330354	hsa-miR-4473	CLIP-seq
MIRT1357877	hsa-miR-4638-5p	CLIP-seq
MIRT2330355	hsa-miR-4671-3p	CLIP-seq
MIRT2330356	hsa-miR-4753-3p	CLIP-seq
MIRT1357887	hsa-miR-512-3p	CLIP-seq
MIRT2330357	hsa-miR-520f	CLIP-seq
MIRT1357895	hsa-miR-520g	CLIP-seq
MIRT1357896	hsa-miR-520h	CLIP-seq
MIRT1357898	hsa-miR-564	CLIP-seq
MIRT1357900	hsa-miR-640	CLIP-seq
MIRT1357903	hsa-miR-924	CLIP-seq
MIRT2330358	hsa-miR-942	CLIP-seq
MIRT2394689	hsa-miR-3941	CLIP-seq
MIRT2394690	hsa-miR-466	CLIP-seq
MIRT2394691	hsa-miR-4672	CLIP-seq
MIRT1357898	hsa-miR-564	CLIP-seq
MIRT2440439	hsa-miR-135a	CLIP-seq
MIRT2440440	hsa-miR-135b	CLIP-seq
MIRT2330354	hsa-miR-4473	CLIP-seq
MIRT2330355	hsa-miR-4671-3p	CLIP-seq
MIRT2330356	hsa-miR-4753-3p	CLIP-seq
MIRT1357887	hsa-miR-512-3p	CLIP-seq
MIRT2330357	hsa-miR-520f	CLIP-seq
MIRT2330358	hsa-miR-942	CLIP-seq

Transcription factors

Show/Hide all(2)

Transcription factor	Regulation	Reference
FOXI1	Unknown	19648736
STAT6	Activation	24429829

Show/Hide all(45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	35601831
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IMP	11932316, 24051746
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	TAS
GO:0006885	Process	Regulation of pH	IEA
GO:0006885	Process	Regulation of pH	ISS
GO:0007605	Process	Sensory perception of sound	TAS	9398842, 10192399
GO:0008271	Function	Secondary active sulfate transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IDA	12107249
GO:0015108	Function	Chloride transmembrane transporter activity	IEA
GO:0015108	Function	Chloride transmembrane transporter activity	IMP	24051746
GO:0015108	Function	Chloride transmembrane transporter activity	TAS	10192399
GO:0015111	Function	Iodide transmembrane transporter activity	IDA	12107249
GO:0015111	Function	Iodide transmembrane transporter activity	IEA
GO:0015111	Function	Iodide transmembrane transporter activity	IMP	11932316
GO:0015111	Function	Iodide transmembrane transporter activity	TAS	10192399
GO:0015116	Function	Sulfate transmembrane transporter activity	IBA
GO:0015116	Function	Sulfate transmembrane transporter activity	TAS	9398842
GO:0015698	Process	Inorganic anion transport	IEA
GO:0015698	Process	Inorganic anion transport	TAS	10192399
GO:0015705	Process	Iodide transport	IMP	16684826
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10192399
GO:0016324	Component	Apical plasma membrane	IDA	11274445, 16928804, 35601831
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016324	Component	Apical plasma membrane	ISS
GO:0019531	Function	Oxalate transmembrane transporter activity	IBA
GO:0019532	Process	Oxalate transport	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0031526	Component	Brush border membrane	ISS
GO:0032880	Process	Regulation of protein localization	IEA
GO:0032880	Process	Regulation of protein localization	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IBA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IDA	35601831
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IEA
GO:0140900	Function	Chloride:bicarbonate antiporter activity	IMP	24051746
GO:1902358	Process	Sulfate transmembrane transport	IBA
GO:1902358	Process	Sulfate transmembrane transport	IEA
GO:1902358	Process	Sulfate transmembrane transport	TAS	9398842
GO:1902476	Process	Chloride transmembrane transport	IBA

MIM	HGNC	e!Ensembl
605646	8818	ENSG00000091137

Protein

UniProt ID

O43511

Protein name

Pendrin (Sodium-independent chloride/iodide transporter) (Solute carrier family 26 member 4)

Protein function

Sodium-independent transporter of chloride and iodide (PubMed:10192399, PubMed:11932316, PubMed:12107249, PubMed:16684826, PubMed:24051746). Mediates electroneutral chloride-bicarbonate, chloride-iodide and chloride-formate exchange with 1:1 sto

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00916	Sulfate_transp	84 → 485	Sulfate permease family	Family
PF01740	STAS	536 → 725	STAS domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the kidney (at protein level) (PubMed:11274445). High expression in adult thyroid, lower expression in adult and fetal kidney and fetal brain. Not expressed in other tissues (PubMed:9398842). {ECO:0000269|PubMed:112

Sequence

MAAPGGRSEPPQLPEYSCSYMVSRPVYSELAFQQQHERRLQERKTLRESLAKCCSCSRKR
AFGVLKTLVPILEWLPKYRVKEWLLSDVISGVSTGLVATLQGMAYALLAAVPVGYGLYSA
FFPILTYFIFGTSRHISVGPFPVVSLMVGSVVLSMAPDEHFLVSSSNGTVLNTTMIDTAA
RDTARVLIASALTLLVGIIQLIFGGLQIGFIVRYLADPLVGGFTTAAAFQVLVSQLKIVL
NVSTKNYNGVLSIIYTLVEIFQNIGDTNLADFTAGLLTIVVCMAVKELNDRFRHKIPVPI
PIEVIVTIIATAISYGANLEKNYNAGIVKSIPRGFLPPELPPVSLFSEMLAASFSIAVVA
YAIAVSVGKVYATKYDYTIDGNQEFIAFGISNIFSGFFSCFVATTALSRTAVQESTGGKT
QVAGIISAAIVMIAILALGKLLEPLQKSVLAAVVIANLKGMFMQLCDIPRLWRQNKIDAV
IWVFTCIVSIILGLDLGLLAGLIFGLLTVVLRVQFPSWNGLGSIPSTDIYKSTKNYKNIE
EPQGVKILRFSSPIFYGNVDGFKKCIKSTVGFDAIRVYNKRLKALRKIQKLIKSGQLRAT
KNGIISDAVSTNNAFEPDEDIEDLEELDIPTKEIEIQVDWNSELPVKVNVPKVPIHSLVL
DCGAISFLDVVGVRSLRVIVKEFQRIDVNVYFASLQDYVIEKLEQCGFFDDNIRKDTFFL
TVHDAILYLQNQVKSQEGQGSILETITLIQDCKDTLELIETELTEEELDVQDEAMRTLAS

Sequence length

780

Interactions

View interactions

	KEGG		Reactome
	Thyroid hormone synthesis		Multifunctional anion exchangers Defective SLC26A4 causes Pendred syndrome (PDS)

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Deafness	Autosomal recessive nonsyndromic hearing loss 4	rs1284633493, rs201562855, rs376653349, rs984967571, rs1399914687, rs542620119, rs201636911, rs768471577, rs111033254, rs777008062, rs111033314, rs1562835515, rs786204450, rs121908364, rs727503428 View all (119 more)	N/A
hearing impairment	Hearing impairment	rs80338848, rs767255075, rs111033308, rs111033199	N/A
Hearing Loss	Hearing loss, autosomal recessive	rs111033305, rs1562817529, rs111033220, rs1562822565, rs397516413, rs1421964916, rs142498437, rs146281367, rs1554358720, rs111033313, rs1562835391, rs111033256, rs1562817224, rs768471577	N/A
Pendred Syndrome	pendred syndrome	rs777008062, rs111033212, rs786204450, rs397516420, rs111033303, rs727503431, rs1057517246, rs145254330, rs786204523, rs121908361, rs111033348, rs786204581, rs111033309, rs1554359693, rs80338848 View all (140 more)	N/A
deafness	Deafness	rs1562817529, rs1562822565, rs1562835391, rs111033242, rs397516424, rs1562817224, rs111033308, rs111033256	N/A
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White pattern	rs111033205	N/A

Show/Hide Unknown Diseases (1)

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.
Microcephaly	Microcephaly 5, primary, autosomal recessive	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (89)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency	Associate	24804242, 33638616, 34410491
Acid Base Imbalance	Associate	21551164
Acidosis	Associate	34240183
Acidosis Renal Tubular	Associate	26568006, 28803436
Adenocarcinoma Follicular	Associate	27329729
Adenoma	Associate	15942636
Alkalosis	Associate	21551164
Allergic Fungal Sinusitis	Associate	22918213
Allergic Fungal Sinusitis	Stimulate	26143180
Anemia Aplastic	Associate	39460668
Apraxias	Associate	31656273
Asthma	Associate	19289392, 22116359, 22918213, 23314903, 24429826, 26143180
Autistic Disorder	Associate	35741772
Bartter Syndrome Type 4A	Associate	29986705
Breast Neoplasms	Associate	34880202
Capillary Malformation Arteriovenous Malformation	Associate	29739340, 36499699
Cardiomegaly	Associate	28717060
Cochlear Diseases	Associate	25468468
Congenital chloride diarrhea	Associate	32295532
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	28222800
Congenital Hypothyroidism	Associate	26886089, 34545167
Cystic Fibrosis	Associate	35748162, 37967223
Cytomegalovirus Infections	Associate	23555729
Deafness	Associate	12676893, 16260428, 16460646, 16791000, 17690912, 18585793, 19289392, 19744334, 21162657, 21811586, 21917135, 22116359, 22116360, 22384008, 22444735 View all (63 more)
Deafness Autosomal Dominant 1	Associate	36071244
Deafness Autosomal Recessive	Associate	12676893, 29739340
Deafness Autosomal Recessive 4	Associate	28941661
Endolymphatic Hydrops	Associate	32536503
Epidermolysa bullosa simplex and limb girdle muscular dystrophy	Associate	21961810
Epileptic Syndromes	Associate	26485571
Focal Nodular Hyperplasia	Associate	23873425
Genetic Diseases Inborn	Associate	30268946, 30473558
Goiter	Associate	16260428, 16791000, 16914891, 17940114, 19289392, 19620588, 21961810, 22444735, 24429826, 24599119, 28222800
Graves Disease	Associate	15942636
Hearing Disorders	Associate	23555729, 31564438, 34533568
Hearing Loss	Associate	16460646, 16931589, 18585793, 18813951, 19040761, 19289392, 19744334, 19786220, 19888295, 19998422, 20668687, 21728752, 21811586, 21961810, 22116359 View all (80 more)
Hearing Loss Bilateral	Associate	36553459
Hearing Loss Sensorineural	Associate	16791000, 16914891, 19786220, 20146813, 21551164, 21704276, 24429826, 24804242, 25493717, 26035154, 27583405, 28687817, 28717060, 29986705, 30036422 View all (11 more)
Hearing Loss Sensorineural	Stimulate	35853923
Hepatitis B	Associate	25231367
Hypertension	Associate	19289392, 22116359
Hypertension Pulmonary	Associate	37730603
Hypokalemia	Associate	36107570
Hypothyroidism	Associate	16791000, 16914891, 21551164, 29772533
Hypothyroidism Congenital Nongoitrous 2	Associate	27821020
Incontinentia Pigmenti	Associate	36499699
Inflammation	Associate	22918213, 26143180
Labyrinth Diseases	Associate	19040761, 21961810, 25468468, 25493717, 30842343, 32910226, 36499699, 36833263, 39460668
Leukemia	Associate	18523155
Leukemia Myeloid Acute	Associate	18523155
Lubs syndrome	Associate	25468468
Lymphoma Follicular	Associate	15942636
Metabolic Diseases	Associate	21551164
Migraine Disorders	Associate	32233732
Musculoskeletal Diseases	Associate	21961810, 31656273
Nasal Polyps	Associate	22918213, 26143180, 30126769
Neoplasms	Associate	16207477, 33198784, 33554245, 34880202, 37208644
Neoplastic Syndromes Hereditary	Associate	18813951, 20668687, 22444735, 23469187, 27247933, 28052261, 28429364, 28780564, 28925492, 31581539, 33907123, 34161886, 39334476, 39967327
Neurodegenerative Diseases	Associate	28052261
Neurologic Manifestations	Associate	32233732
Nonsyndromic Deafness	Associate	19744334, 21704276, 23256547, 23504402, 23705809, 23990876, 24341454, 24599119, 24612839, 25149764, 25390158, 26783197, 27247933, 28225033, 28273078 View all (12 more)
Nonsyndromic Holoprosencephaly	Associate	22116360
Nonsyndromic sensorineural hearing loss	Associate	21162657, 21961810, 23151025, 23185506, 24341454, 24612839, 27792752, 28383030, 28505178, 28780564, 29320412, 30068397, 30733538, 31599023, 35249537, 36553459, 36555390, 39967327 View all (3 more)
Nose Diseases	Associate	22918213
Partial lissencephaly	Associate	25468468
Pdgfra Associated Chronic Eosinophilic Leukemia	Associate	30126769
Pendred syndrome	Associate	12676893, 15942636, 16260428, 16791000, 16914891, 17690912, 17940114, 18349467, 18813951, 19289392, 21274344, 21551164, 21704276, 21961810, 22116359 View all (34 more)
Peroneal Neuropathies	Associate	28717060
Prostatic Neoplasms	Associate	35836192
Pseudovaginal Perineoscrotal Hypospadias	Associate	39460668
Pulmonary Arterial Hypertension	Associate	37730603
Pulmonary Disease Chronic Obstructive	Associate	22116359, 24429826, 26143180
Recombinant chromosome 8 syndrome	Associate	35836192
Retinal Dysplasia	Associate	19040761, 29739340, 30842343
Rhinitis Allergic	Stimulate	22918213
Seizures	Associate	32233732
Severe Acute Respiratory Syndrome	Associate	30733538
Sjogren's Syndrome	Associate	26568006
Thoracic Diseases	Associate	26303896
Thyroid Cancer Papillary	Associate	15942636, 23459462, 33198784, 33554245, 36465624, 39408960
Thyroid Diseases	Associate	16260428, 16791000, 16914891, 32910226
Thyroid Dyshormonogenesis 1	Associate	27525530, 30240412
Thyroid Dyshormonogenesis 2A	Associate	24429826
Thyroid Neoplasms	Associate	15942636, 27329729, 32377223, 34408227, 38165228
Thyroiditis	Associate	15942636, 23873425, 31971949, 33198784
Usher Syndromes	Associate	31985074
Vertigo	Associate	24599119
Vestibular Diseases	Associate	19998422
Wounds Nonpenetrating	Associate	26303896

SLC26A4 (solute carrier family 26 member 4)