|HGNC Description:||solute carrier family 26 (anion exchanger), member 2|
|Chromosome:||Chr.5(+): 149340300-149366963 GRCh37|
|OMIM Phenotype:||Diastrophic dysplasia; Atelosteogenisi, type II; Achondrogensis, type IB; Diastrophic dyplasia, broad bone-platyspondylic variant; Epiphyseal dysplasia, multiple, 4|
|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).|
|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.
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.
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.