UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:TAT1
HGNC Symbol:SLC26A8
HGNC Description:solute carrier family 26 (anion exchanger), member 8
HGNC ID:14468
Superfamily:SLC
Chromosome:Chr.6(-): 35911291-35992413 GRCh37
Location:6p21
OMIM:608480
OMIM Phenotype:None
Accessions:AF331522,AI015633,BG702985
Nucleotide RefSeq:NM_052961
Protein RefSeq:NP_443193
Entrez:116369
Ensembl:ENSG00000112053
Isoforms:3
Evidence:Substrate In Vitro Evidence: Expression of SLC26A8 in X. laevis oocytes showed this protein to be a transporter of chloride, sulfate, and oxalate (Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D, Kere J. Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem 277(16): 14246-54, 2002). Tissue Distribution Evidence: SLC26A8 was found to be expressed almost exclusively in testes by Northern blot (Lohi H, Kujala M, Makela S, Lehtonen E, Kestila M, Saarialho-Kere U, Markovich D, Kere J. Functional characterization of three novel tissue-specific anion exchangers SLC26A7, -A8, and -A9. J Biol Chem 277(16): 14246-54, 2002).
Tissues:Testis
Type:protein-coding
Sets:0
PharmGKB ID:PA37885
HPRD ID:12241
Substrates:Chloride, sulfate, oxalate
Trivial Names:TAT1, SPGF3
Transcripts:NM_052961.3 [Chr.6(-): 35911291-35992413 GRCh37]
NM_138718.2 [Chr.6(-): 35911291-35992277 GRCh37]
NM_001193476.1 [Chr.6(-): 35911291-35992305 GRCh37]
ENST00000355574 [Chr.6(-): 35911298-35992365 GRCh37]
ENST00000394602 [Chr.6(-): 35911297-35992270 GRCh37]
ENST00000465492 [Chr.6(-): 35911472-35936672 GRCh37]
ENST00000466805 [Chr.6(-): 35911295-35937599 GRCh37]
ENST00000469847 [Chr.6(-): 35965615-35992557 GRCh37]
ENST00000480663 [Chr.6(-): 35980026-35992645 GRCh37]
ENST00000486155 [Chr.6(-): 35927704-35992633 GRCh37]
ENST00000490799 [Chr.6(-): 35911291-35992632 GRCh37]
Annotation History:View Events (5)

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 SLC26A8.

Variant Data

View all PMT variants for SLC26A8 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.