|HGNC Description:||solute carrier family 26 (anion exchanger), member 3|
|Chromosome:||Chr.7(-): 107405912-107443678 GRCh37|
|OMIM Phenotype:||Chloride diarrhea, congential, finnish type; Chloride diarrhea, congential|
|Evidence:||Substrate In Vitro Evidence: DRA was expressed in Sf9 insect cells and found to be a DIDS-sensitive sulfate transporter (Byeon MK, Frankel A, Papas TS, Henderson KW, Schweinfest CW. Human DRA functions as a sulfate transporter in Sf9 insect cells. Protein Expr Purif 12(1): 67-74, 1998). However, when expressed in X. laevis oocytes, hDRA was found to be a chloride-chloride and chloride-bicarbonate exchanger, with lower activity toward oxalate, and no detectable transport of sulfate or butyrate (Chernova MN, Jiang L, Shmukler BE, Schweinfest CW, Blanco P, Freedman SD, Stewart AK, Alper SL. Acute regulation of the SLC26A3 congenital chloride diarrhoea anion exchanger (DRA) expressed in Xenopus oocytes. J Physiol 549(Pt 1): 3-19, 2003). Substrate In Vivo Evidence: DRA was originally cloned as a suspected tumor suppressor gene that was down-regulated in adenoma (hence, DRA); however, downregulation of DRA in neoplastic cells is now thought to be more due to its status as a marker of differentiated colonic epithelium than to a role in cellular proliferation. Recessive loss-of-function mutations in the SLC26A3 gene result in severe congenital chloride diarrhea, CLD (OMIM: 21470 and 126650). Tissue Distribution Evidence: By Northern blot, DRA mRNA expression was found to be restricted to normal colon mucosa (Schweinfest CW, Henderson KW, Suster S, Kondoh N, Papas TS. Identification of a colon mucosa gene that is down-regulated in colon adenomas and adenocarcinomas. Proc Natl Acad Sci USA 90(9): 4166-70, 1993).|
|Substrates:||Chloride, bicarbonate, oxalate; sulfate?|
|Trivial Names:||CLD, DRA|
|Transcripts:||NM_000111.2 [Chr.7(-): 107405912-107443678 GRCh37]||ENST00000340010 [Chr.7(-): 107405917-107443652 GRCh37]|
ENST00000379083 [Chr.7(-): 107405912-107443670 GRCh37]
ENST00000422236 [Chr.7(-): 107405913-107443670 GRCh37]
ENST00000453332 [Chr.7(-): 107432297-107443670 GRCh37]
ENST00000468551 [Chr.7(-): 107423275-107427967 GRCh37]
ENST00000469651 [Chr.7(-): 107416460-107417197 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.
Transmembrane prediction: TOPO2 image is not available.