UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SAT2
HGNC Symbol:SLC38A2
HGNC Description:solute carrier family 38, member 2
HGNC ID:13448
Superfamily:SLC
Chromosome:Chr.12(-): 46751971-46766645 GRCh37
Location:12q
OMIM:605180
OMIM Phenotype:None
Accessions:NM_018976
Nucleotide RefSeq:NM_018976
Protein RefSeq:NP_061849
Entrez:54407
Ensembl:ENSG00000134294
Isoforms:2
Evidence:Substrate In Vitro Evidence: Alanine, asparagine, cysteine, glutamine, glycine, histidine, methionine, proline, and serine. SLC38A2 is often the protein responsible for classic system A activity, which has been observed in many different systems Mackenzie and Erickson 2003, Pflugers Arch Tissue Distribution Evidence: Found in all tissues tested by Northern Blot Mackenzie and Erickson 2003, Pflugers Arch Hatanaka et al 2000, Biochem Biophys Acta, Vol 1476, p.1-6 Sugawara et al 2000, Biochem Biophys Acta, Vol 1509, p.7-13 Varoqui et al 2002, Biochem Biophys Res Comm, Vol 290, p.903-908 Yao et al 2000, JBC, Vol 275, p.22790-22797
Tissues:brain, colon, heart, kidney, liver, lung, muscle, placenta, small intestine, spleen, stomach, testis, spinal cord, adrenal glands, thymus, adipose, skin
Type:protein-coding
Sets:V
PharmGKB ID:PA37773
HPRD ID:05535
Substrates:alpha-(methylamino)isobutyric acid, alanine, asparagine, histidine, glutamine, cysteine, glycine, methioine, proline, serine
Trivial Names:ATA2, SAT2, SNAT2, PRO1068
Transcripts:NM_018976.4 [Chr.12(-): 46751971-46766645 GRCh37]
XM_005268983.1 [Chr.12(-): 46751971-46766557 GRCh37]
ENST00000256689 [Chr.12(-): 46751972-46766650 GRCh37]
ENST00000546520 [Chr.12(-): 46754901-46756687 GRCh37]
ENST00000547252 [Chr.12(-): 46758425-46765216 GRCh37]
ENST00000548111 [Chr.12(-): 46756073-46758336 GRCh37]
ENST00000548236 [Chr.12(-): 46756108-46758615 GRCh37]
ENST00000548785 [Chr.12(-): 46755636-46756325 GRCh37]
ENST00000548870 [Chr.12(-): 46758225-46761193 GRCh37]
ENST00000549258 [Chr.12(-): 46752264-46766554 GRCh37]
ENST00000551374 [Chr.12(-): 46753168-46759090 GRCh37]
ENST00000551405 [Chr.12(-): 46764295-46766229 GRCh37]
ENST00000552414 [Chr.12(-): 46756898-46758525 GRCh37]
ENST00000552703 [Chr.12(-): 46754743-46756344 GRCh37]
ENST00000553252 [Chr.12(-): 46764582-46766556 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 SLC38A2.

Variant Data

View all PMT variants for SLC38A2 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.