UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC26A6
HGNC Symbol:SLC26A6
HGNC Description:solute carrier family 26 (anion exchanger), member 6
HGNC ID:14472
Superfamily:SLC
Chromosome:Chr.3(-): 48663156-48672926 GRCh37
Location:3p21.3
OMIM:610068
OMIM Phenotype:None
Accessions:NM_022911
Nucleotide RefSeq:NM_022911
Protein RefSeq:NP_075062
Entrez:65010
Ensembl:ENSG00000225697
Isoforms:7
Evidence:Substrate In Vitro Evidence: Studies on human SLC26A6 have not shown that this gene codes for an anion transporter (Waldegger S, Moschen I, Ramirez A, Smith RJ, Ayadi H, Lang F, Kubisch C. Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family. Genomics 72(1): 43-50, 2001; Lohi H, Kujala M, Kerkela E, Saarialho-Kere U, Kestila M, Kere J. Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics 70(1): 102-12, 2000). The mouse Slc26a6 transporter, the putative apical chloride-formate exchanger of the renal proximal tubule, was shown to function as a nonspecific transporter of chloride, sulfate, oxalate, and formate when expressed in X. laevis oocytes (Xie Q, Welch R, Mercado A, Romero MF, Mount DB. Molecular characterization of the murine Slc26a6 anion exchanger: functional comparison with Slc26a1. Am J Physiol Renal Physiol 283(4): F826-38, 2002). Tissue Distribution Evidence: Northern blot reveals restricted expression of SLC26A6 mRNA to kidney and pancreas, with low expression levels in heart, skeletal muscle, placenta, lung, liver, and brain (Waldegger S, Moschen I, Ramirez A, Smith RJ, Ayadi H, Lang F, Kubisch C. Cloning and characterization of SLC26A6, a novel member of the solute carrier 26 gene family. Genomics 72(1): 43-50, 2001; Lohi H, Kujala M, Kerkela E, Saarialho-Kere U, Kestila M, Kere J. Mapping of five new putative anion transporter genes in human and characterization of SLC26A6, a candidate gene for pancreatic anion exchanger. Genomics 70(1): 102-12, 2000).
Tissues:Kidney, pancreas (high); heart, skeletal muscle, placenta, lung, liver, brain (low)
Type:protein-coding
Sets:V
PharmGKB ID:PA37889
HPRD ID:10235
Substrates:Mice: chloride, sulfate, oxalate, formate
Trivial Names:
Transcripts:NM_001040454.1 [Chr.3(-): 48663156-48671279 GRCh37]
NM_022911.2 [Chr.3(-): 48663156-48672926 GRCh37]
NM_134263.2 [Chr.3(-): 48663156-48672926 GRCh37]
NM_134426.2 [Chr.3(-): 48663156-48672926 GRCh37]
XM_005265409.1 [Chr.3(-): 48663156-48672926 GRCh37]
XM_005265408.1 [Chr.3(-): 48663156-48672926 GRCh37]
XM_005265407.1 [Chr.3(-): 48663156-48672173 GRCh37]
ENST00000307364 [Chr.3(-): 48663158-48672887 GRCh37]
ENST00000337000 [Chr.3(-): 48663158-48672926 GRCh37]
ENST00000358747 [Chr.3(-): 48663158-48671279 GRCh37]
ENST00000383733 [Chr.3(-): 48663158-48672887 GRCh37]
ENST00000395550 [Chr.3(-): 48663158-48672874 GRCh37]
ENST00000414944 [Chr.3(-): 48667896-48669718 GRCh37]
ENST00000420764 [Chr.3(-): 48663156-48672916 GRCh37]
ENST00000421649 [Chr.3(-): 48667348-48669800 GRCh37]
ENST00000426599 [Chr.3(-): 48669452-48672874 GRCh37]
ENST00000431213 [Chr.3(-): 48669178-48670813 GRCh37]
ENST00000431739 [Chr.3(-): 48669371-48672874 GRCh37]
ENST00000444531 [Chr.3(-): 48667885-48669770 GRCh37]
ENST00000455886 [Chr.3(-): 48663179-48672874 GRCh37]
ENST00000462009 [Chr.3(-): 48664962-48667188 GRCh37]
ENST00000466257 [Chr.3(-): 48664327-48665925 GRCh37]
ENST00000469693 [Chr.3(-): 48665602-48667182 GRCh37]
ENST00000480524 [Chr.3(-): 48663160-48671279 GRCh37]
ENST00000482282 [Chr.3(-): 48669082-48671264 GRCh37]
ENST00000485361 [Chr.3(-): 48668147-48668833 GRCh37]
ENST00000489483 [Chr.3(-): 48663158-48671760 GRCh37]
ENST00000494717 [Chr.3(-): 48668359-48668725 GRCh37]
ENST00000496469 [Chr.3(-): 48665902-48668780 GRCh37]
Annotation History:View Events (31)

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 SLC26A6.

Variant Data

View all PMT variants for SLC26A6 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.