UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:DTD
HGNC Symbol:SLC26A2
HGNC Description:solute carrier family 26 (anion exchanger), member 2
HGNC ID:10994
Superfamily:SLC
Chromosome:Chr.5(+): 149340300-149366963 GRCh37
Location:5q31-q34
OMIM:606718
OMIM Phenotype:Diastrophic dysplasia; Atelosteogenisi, type II; Achondrogensis, type IB; Diastrophic dyplasia, broad bone-platyspondylic variant; Epiphyseal dysplasia, multiple, 4
Accessions:AF190156,AK025078,AW089339,BC059390,BI912879,BQ437
Nucleotide RefSeq:NM_000112
Protein RefSeq:NP_000103
Entrez:1836
Ensembl:ENSG00000155850
Isoforms:1
Evidence:Substrate In Vitro Evidence: Studies on the human DTDST transporter include a linkage study showing reduced sulfate uptake in cultured skin fibroblasts in patients with mutations in this gene (i.e., patients with diastrophic dysplasia) (Hästbacka J, de la Chapelle A, Mahtani M, Clines G, Reeve-Daly M, Daly M, Hamilton B, Kusumu K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler A, Kaitila I, and Lander E. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78: 1073-1087, 1994). Later, DTDST expressed in X. laevis oocytes was found to be a chloride- and bicarbonate-sensitive sulfate transporter (Satoh H, Susaki M, Shukunami C, Iyama K, Negoro T, Hiraki Y. Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. J Biol Chem 273:12307-12315, 1998). The rat and mouse orthologs have been expressed heterologously (rat dtdst in X. laevis oocytes, and mouse st-ob in C3H10T1/2 fibroblasts) and have been shown to induce sulfate transport sensitive to cis-inhibition by chloride, thiosulfate, oxalate, and DIDS (Satoh H, Susaki M, Shukunami C, Iyama K, Negoro T, and Hiraki Y. Functional analysis of diastrophic dysplasia sulfate transporter. Its involvement in growth regulation of chondrocytes mediated by sulfated proteoglycans. J Biol Chem 273: 12307-12315, 1998; Kobayashi T, Sugimoto T, Saijoh K, Fukase M, and Chihara K. Cloning of mouse diastrophic dysplasia sulfate transporter gene induced during osteoblast differentiation by bone morphogenetic protein-2. Gene 198: 341-349, 1997). Substrate In Vivo Evidence: Mutations in the DTDST gene have been linked to several inherited chondrodysplasias, including diastrophic dysplasia, atelosteogenesis type 2 and a lethal condition known as achondrogenesis 1B. The pathogenic mechanism is thought to be reduced sulfate transport leading to undersulfation of cartilage proteoglycans (OMIM #222600). Tissue Distribution Evidence: Northern blot analysis showed DTDST mRNA expression in all tissues tested (Hästbacka J, de la Chapelle A, Mahtani M, Clines G, Reeve-Daly M, Daly M, Hamilton B, Kusumu K, Trivedi B, Weaver A, Coloma A, Lovett M, Buckler A, Kaitila I, and Lander E. The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell 78: 1073-1087, 1994).
Tissues:Ubiquitous
Type:protein-coding
Sets:0
PharmGKB ID:PA149
HPRD ID:05990
Substrates:Sulfate
Trivial Names:DTD, EDM4, DTDST, MST153, D5S1708, MSTP157
Transcripts:NM_000112.3 [Chr.5(+): 149340300-149366963 GRCh37]
ENST00000286298 [Chr.5(+): 149340300-149366968 GRCh37]
ENST00000433184 [Chr.5(+): 149340348-149357285 GRCh37]
ENST00000503336 [Chr.5(+): 149357543-149373018 GRCh37]
Annotation History:View Events (2)

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 SLC26A2.

Variant Data

View all PMT variants for SLC26A2 on UCSC Genome Browser
Showing SNP features for transcript: NM_000112  
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.