UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:GAT3
HGNC Symbol:SLC6A11
HGNC Description:solute carrier family 6 (neurotransmitter transporter), member 11
HGNC ID:11044
Superfamily:SLC
Chromosome:Chr.3(+): 10857917-10980146 GRCh37
Location:3p25.3
OMIM:607952
OMIM Phenotype:None
Accessions:NM_014229
Nucleotide RefSeq:NM_014229
Protein RefSeq:NP_055044
Entrez:6538
Ensembl:ENSG00000132164
Isoforms:1
Evidence:Substrate In Vitro Evidence: GABA - COS-7 transfection. Borden LA, Neurochem Int. 1996 Oct;29(4):335-56. Hypotaurine - COS-7 transfection. Borden LA, Neurochem Int. 1996 Oct;29(4):335-56. Tissue Distribution Evidence: Brain - Northern Blot and RT-PCR. Borden LA, Neurochem Int. 1996 Oct;29(4):335-56. Retina - Northern Blot and RT-PCR. Borden LA, Neurochem Int. 1996 Oct;29(4):335-56.
Tissues:Brain, Retina
Type:protein-coding
Sets:V
PharmGKB ID:PA35907
HPRD ID:06406
Substrates:GABA, Hypotaurine
Trivial Names:GAT3, GAT4, GAT-3
Transcripts:NM_014229.1 [Chr.3(+): 10857917-10980146 GRCh37]
ENST00000254488 [Chr.3(+): 10857885-10982419 GRCh37]
ENST00000454147 [Chr.3(+): 10857886-10867183 GRCh37]
ENST00000464828 [Chr.3(+): 10975652-10977083 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 SLC6A11.

Variant Data

View all PMT variants for SLC6A11 on UCSC Genome Browser
Showing SNP features for transcript: NM_014229  
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.