Gene table of SLC26A4 : solute carrier family 26 member 4

Gene-disease associations table

Disease ID	Disease name	Source of annotation with SLC26A4	OMIM link	Number of associated genes	genes
274600	PENDRED SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	2	SLC26A4, FOXI1
PS220290	DEAFNESS, AUTOSOMAL RECESSIVE	ClinVar, OMIM, HUMSAVAR	link to OMIM	60	CLIC5, KARS, OTOGL, CABP2, HGF, DFNB59, GIPC3, EPS8, MYO3A, CDH23, OTOF, ELMOD3, ESRRB, RDX, GJB2, GJB3, ESPN, ADCY1, CIB2, STRC, TMIE, S1PR2, FAM65B, TSPEAR, TBC1D24, SLC26A4, OTOG, COL11A2, MARVELD2, PNPT1, MYO15A, WHRN, CLDN14, MYO7A, GJB6, MET, TPRN, DCDC2, LRTOMT, TMC1, MYO6, ILDR1, MSRB3, SERPINB6, SLC26A5, ATP2B2, LHFPL5, SYNE4, GRXCR2, FOXI1, GRXCR1, LOXHD1, TECTA, PCDH15, TRIOBP, USH1C, KCNJ10, PTPRQ, TMPRSS3, OTOA

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

KEGG pathway	KEGG ID	KEGG IC
Thyroid hormone synthesis	hsa04918	6.56

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
ion antiporter activity	GO:0099516	5.75
secondary active sulfate transmembrane transporter activity	GO:0008271	7.17
sulfate transmembrane transporter activity	GO:0015116	7.17
sulfur compound transmembrane transporter activity	GO:1901682	6.44
anion transmembrane transporter activity	GO:0008509	4.43
bicarbonate transmembrane transporter activity	GO:0015106	6.79
inorganic anion transmembrane transporter activity	GO:0015103	4.87
passive transmembrane transporter activity	GO:0022803	3.6
anion channel activity	GO:0005253	5.23
chloride channel activity	GO:0005254	5.36
chloride transmembrane transporter activity	GO:0015108	5.24
active transmembrane transporter activity	GO:0022804	3.85
antiporter activity	GO:0015297	5.33
secondary active transmembrane transporter activity	GO:0015291	4.29
transporter activity	GO:0005215	2.57
ion channel activity	GO:0005216	3.71
substrate-specific transmembrane transporter activity	GO:0022891	2.9
oxalate transmembrane transporter activity	GO:0019531	7.34
substrate-specific transporter activity	GO:0022892	2.72
anion:anion antiporter activity	GO:0015301	6.41
organic anion transmembrane transporter activity	GO:0008514	5.31
ion transmembrane transporter activity	GO:0015075	3.04
transmembrane transporter activity	GO:0022857	2.82
channel activity	GO:0015267	3.6
iodide transmembrane transporter activity	GO:0015111	8.64
substrate-specific channel activity	GO:0022838	3.67