full name
solute carrier family 26 member 4

synonyms
DFNB4, EVA, PDS, TDH2B, SLC26A4, ENSG00000091137

HGNC
HGNC:8818

Entrez Gene
Gene:5172

ENSEMBL
ENSG00000091137

location
chr: 7
start: 107301080
stop: 107358254
strand: +

OMIM
OMIM:605646: SLC26A4 (Autosomal recessive inheritance)
OMIM:600791: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
OMIM:274600: Pendred syndrome

transcripts
NM_000441.1

pathways
Multifunctional anion exchangers [NCBI:1269913] [REACTOME:R-HSA-427601] [PUBMED:18400693] [PUBMED:12759755]
SLC-mediated transmembrane transport [NCBI:1269907] [REACTOME:R-HSA-425407] [PUBMED:14624363] [PUBMED:19164095]
Thyroid hormone synthesis [NCBI:835410] [KEGG:hsa04918] [PUBMED:21448409] [PUBMED:9086577] [PUBMED:21986207] [PUBMED:11137035] [PUBMED:17666482] [PUBMED:20407074] [PUBMED:20093166] [PUBMED:20122987] [PUBMED:15611820] [PUBMED:20378719] [PUBMED:23438835] [PUBMED:11717564] [PUBMED:16870170] [PUBMED:19196800] [PUBMED:9538302] [PUBMED:11029276] [PUBMED:20167242] [PUBMED:10893432] [PUBMED:21683758]
Transmembrane transport of small molecules [NCBI:1269903] [REACTOME:R-HSA-382551]
Transport of inorganic cations/anions and amino acids/oligopeptides [NCBI:1269908] [REACTOME:R-HSA-425393] [PUBMED:19164095] [PUBMED:16461757] [PUBMED:18195086] [PUBMED:18400693] [PUBMED:17581921] [PUBMED:12845533] [PUBMED:18690016] [PUBMED:16955105] [PUBMED:17693766] [PUBMED:12759754] [PUBMED:12739168] [PUBMED:12734757]