UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:PDS
HGNC Symbol:SLC26A4
HGNC Description:solute carrier family 26 (anion exchanger), member 4
HGNC ID:8818
Superfamily:SLC
Chromosome:Chr.7(+): 107301080-107358254 GRCh37
Location:7q31
OMIM:605646
OMIM Phenotype:Pendred syndrome; Deafness, autosomal recessive 4; Enlarger vestibular aqueduct
Accessions:NM_000441
Nucleotide RefSeq:NM_000441
Protein RefSeq:NP_000432
Entrez:5172
Ensembl:ENSG00000091137
Isoforms:5
Evidence:Substrate In Vitro Evidence: When expressed in Sf9 insect cells, PDS functioned as a chloride and iodide transporter, but did not transport sulfate (Scott DA, Wang R, Kreman TM, Sheffield VC, Karniski LP. The Pendred syndrome gene encodes a chloride-iodide transport protein. Nature Genet 21: 440-443, 1999. Substrate In Vivo Evidence: Pendred syndrome (PDS), the most common syndromal form of deafness, is an autosomal recessive disorder associated with developmental abnormalities of the cochlea, sensorineural hearing loss, and diffuse thyroid enlargement (goiter). Pendred syndrome has been linked to mutations in the SLC26A4 gene (Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17(4): 411-22, 1997). Targeted deletion of murine Slc26a4 results in profound deafness and variable deficits in vestibular function (Everett LA, Belyantseva IA, Noben-Trauth K, Cantos R, Chen A, Thakkar SI, Hoogstraten-Miller SL, Kachar B, Wu DK, Green ED. Targeted disruption of mouse Pds provides insight about the inner-ear defects encountered in Pendred syndrome. Hum Mol Genet 10:153-161, 2001). Tissue Distribution Evidence: By Northern blot, PDS was found to be expressed predominantly in the thyroid glands, with weaker signals in kidney and brain (Everett LA, Glaser B, Beck JC, Idol JR, Buchs A, Heyman M, Adawi F, Hazani E, Nassir E, Baxevanis AD, Sheffield VC, Green ED. Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS). Nat Genet 17(4): 411-22, 1997).
Tissues:Thyroid (high); kidney, brain (low)
Type:protein-coding
Sets:V
PharmGKB ID:PA35506
HPRD ID:05735
Substrates:Chloride, iodide
Trivial Names:EVA, PDS, DFNB4, TDH2B
Transcripts:NM_000441.1 [Chr.7(+): 107301080-107358254 GRCh37]
XM_005250425.1 [Chr.7(+): 107301449-107356062 GRCh37]
XM_005250426.1 [Chr.7(+): 107332273-107356062 GRCh37]
XM_005250428.1 [Chr.7(+): 107332274-107356062 GRCh37]
XM_005250427.1 [Chr.7(+): 107333758-107356062 GRCh37]
ENST00000265715 [Chr.7(+): 107301080-107358254 GRCh37]
ENST00000440056 [Chr.7(+): 107301449-107312671 GRCh37]
ENST00000460748 [Chr.7(+): 107333777-107336409 GRCh37]
ENST00000477350 [Chr.7(+): 107332335-107340620 GRCh37]
ENST00000480841 [Chr.7(+): 107333393-107342329 GRCh37]
ENST00000492030 [Chr.7(+): 107340531-107355958 GRCh37]
ENST00000497446 [Chr.7(+): 107332391-107336484 GRCh37]
ENST00000541474 [Chr.7(+): 107332335-107356172 GRCh37]
ENST00000543100 [Chr.7(+): 107333777-107356171 GRCh37]
ENST00000544569 [Chr.7(+): 107332341-107356069 GRCh37]
Annotation History:View Events (37)

GTEx Expression by Gene and Transcript

The heat map summarizes relative expression by tissue type at two levels of tissue detail, e.g., 'Brain' and 'Brain - Amygdala'. Choose among four calculated expression values, including mean and median RPKM values, and quantile normalized (QN) distributions of these values. (Note that differences between some distributions are subtle.) The coloring is relative to the mean of all displayed values. All values are log base 2. (See also PMT GTEx Expression Plotting.) Click on a transcript or tissue to resort the data.

Tissues:
Expression values:
No expression data exists for SLC26A4.

Variant Data

View all PMT variants for SLC26A4 on UCSC Genome Browser
Showing SNP features for transcript:   
1000 Genomes  

20141104 phase 3 variant call set of the 20130502 sequence freeze and alignments for SNPs and short indels (indels > 255 and structural variants are not included here). This variant set contains 2504 individuals from 26 populations (mouse over population column heading for population sizes).
Showing gene variants in regions defined by NCBI RefSeq exons, putative promoter, and PMT resequencing assays.
Note: Frequencies are calculated directly from reported genotypes and may vary from consensus frequencies reported by the 1000 Genomes project, which relied on additional data and the GATK tool Variant Quality Score Recalibrator.
dbSNP build 142.
Array availability: I - found on Illumina Human1M-Duo BeadChip (2011-04-21)  A - found on Affymetrix Genome-Wide SNP Array 6.0 (2011-06-21)  
Download the SNP table data as a tab-delimited file.

Transmembrane prediction:

Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.