UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CLD
HGNC Symbol:SLC26A3
HGNC Description:solute carrier family 26 (anion exchanger), member 3
HGNC ID:3018
Superfamily:SLC
Chromosome:Chr.7(-): 107405912-107443678 GRCh37
Location:7q31
OMIM:126650
OMIM Phenotype:Chloride diarrhea, congential, finnish type; Chloride diarrhea, congential
Accessions:L02785
Nucleotide RefSeq:NM_000111
Protein RefSeq:NP_000102
Entrez:1811
Ensembl:ENSG00000091138
Isoforms:1
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).
Tissues:Normal colon
Type:protein-coding
Sets:0
PharmGKB ID:PA35044
HPRD ID:00544
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.

Tissues:
Expression values:
No expression data exists for SLC26A3.

Variant Data

View all PMT variants for SLC26A3 on UCSC Genome Browser
Showing SNP features for transcript: NM_000111  
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: TOPO2 image is not available.