UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:TAUT
HGNC Symbol:SLC6A6
HGNC Description:solute carrier family 6 (neurotransmitter transporter), member 6
HGNC ID:11052
Superfamily:SLC
Chromosome:Chr.3(+): 14444076-14530857 GRCh37
Location:3p25.1
OMIM:186854
OMIM Phenotype:None
Accessions:BC006252,BM149397,BM873716,BM981004,BQ945675,BU625
Nucleotide RefSeq:NM_001134367
Protein RefSeq:NP_001127839
Entrez:6533
Ensembl:ENSG00000131389
Isoforms:3
Evidence:Substrate In Vitro Evidence: Taurine in HeLa cells Ramamoorthy et al 1994, Biochem J, Vol 300 (Pt 3), p.893-900 Specific for beta-amino acids Ramamoorthy et al 1994, Biochem J, Vol 300 (Pt 3), p.893-900 Substrate In Vivo Evidence: Although there is no direct evidence for a role of TAUT in pathological states, abnormal taurine levels are associated with several disorders. Thus, TAUT may play a role in taurine deficiency diseases including abnormal renal development and retinal-related blindness. Additionally, SLC6A6 maps to a chromosomal region associated with mental retardation Chen et al 2003, Pflugers Arch Tissue Distribution Evidence: Placenta and skeletal muscle (high), heart, lung, brain, kidney, pancreas (intermediate), liver (low) by Northern Blot analysis Ramamoorthy et al 1994, Biochem J, Vol 300 (Pt 3), p.893-900
Tissues:High in placenta, skeletal muscle; intermediate in heart, brain, retina, lung, kidney, pancreas; low in liver
Type:protein-coding
Sets:0
PharmGKB ID:PA35912
HPRD ID:01734
Substrates:taurine, beta-alanine
Trivial Names:TAUT
Transcripts:NM_003043.4 [Chr.3(+): 14444076-14530857 GRCh37]
NM_001134367.2 [Chr.3(+): 14444076-14530857 GRCh37]
NM_001134368.2 [Chr.3(+): 14444076-14489696 GRCh37]
ENST00000360861 [Chr.3(+): 14444106-14530855 GRCh37]
ENST00000416216 [Chr.3(+): 14444120-14489696 GRCh37]
ENST00000427436 [Chr.3(+): 14444076-14520409 GRCh37]
ENST00000428884 [Chr.3(+): 14444121-14485850 GRCh37]
ENST00000435095 [Chr.3(+): 14444125-14499569 GRCh37]
ENST00000452151 [Chr.3(+): 14513750-14526411 GRCh37]
ENST00000452775 [Chr.3(+): 14474178-14487324 GRCh37]
ENST00000454876 [Chr.3(+): 14444076-14530857 GRCh37]
ENST00000458124 [Chr.3(+): 14444076-14530857 GRCh37]
ENST00000484191 [Chr.3(+): 14444148-14499534 GRCh37]
ENST00000490683 [Chr.3(+): 14444076-14452831 GRCh37]
Annotation History:View Events (17)

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 SLC6A6.

Variant Data

View all PMT variants for SLC6A6 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: TOPO2 image is not available.