UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:G17
HGNC Symbol:SLC38A3
HGNC Description:solute carrier family 38, member 3
HGNC ID:18044
Superfamily:SLC
Chromosome:Chr.3(+): 50242692-50258406 GRCh37
Location:3p21.3
OMIM:604437
OMIM Phenotype:None
Accessions:BC042875,BX537382
Nucleotide RefSeq:NM_006841
Protein RefSeq:NP_006832
Entrez:10991
Ensembl:ENSG00000188338
Isoforms:1
Evidence:Substrate In Vitro Evidence: Glutamine in glial cells, transport is bi-directional Chaudhry et al (1999), Cell, Vol 99, p.769-780 Histidine Mackenzie and Erickson 2003, Pflugers Arch Tissue Distribution Evidence: Brain (astrocytes), liver, kidney (immunocytochemistry) Boulland et al 2002, Eur J Neurosci, Vol 15 (10), p.1615-31 Heart, skeletal muscle, adipose tissue (Northern Blot) Mackenzie and Erickson 2003, Pflugers Arch
Tissues:liver, skeletal muscle, pancreas, heart, brain, kidney, retina, adipose
Type:protein-coding
Sets:0
PharmGKB ID:PA38281
HPRD ID:11980
Substrates:glutamine, asparagine, histidine
Trivial Names:G17, SN1, NAT1
Transcripts:NM_006841.4 [Chr.3(+): 50242692-50258406 GRCh37]
ENST00000414604 [Chr.3(+): 50242701-50255427 GRCh37]
ENST00000417121 [Chr.3(+): 50255346-50256112 GRCh37]
ENST00000417851 [Chr.3(+): 50255168-50256100 GRCh37]
ENST00000420502 [Chr.3(+): 50242679-50258411 GRCh37]
ENST00000427428 [Chr.3(+): 50242679-50252189 GRCh37]
ENST00000439524 [Chr.3(+): 50252699-50254725 GRCh37]
ENST00000445096 [Chr.3(+): 50242719-50256104 GRCh37]
ENST00000445325 [Chr.3(+): 50245116-50252201 GRCh37]
ENST00000456338 [Chr.3(+): 50242712-50252346 GRCh37]
ENST00000541861 [Chr.3(+): 50242692-50258400 GRCh37]

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 SLC38A3.

Variant Data

View all PMT variants for SLC38A3 on UCSC Genome Browser
Showing SNP features for transcript: NM_006841  
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.