UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SN2
HGNC Symbol:SLC38A5
HGNC Description:solute carrier family 38, member 5
HGNC ID:18070
Superfamily:SLC
Chromosome:Chr.X(-): 48316927-48328644 GRCh37
Location:Xp11.23
OMIM:300649
OMIM Phenotype:None
Accessions:AF276889
Nucleotide RefSeq:NM_033518
Protein RefSeq:NP_277053
Entrez:92745
Ensembl:ENSG00000017483
Isoforms:11
Evidence:Substrate In Vitro Evidence: Glutamine, asparagine, histidine, serine, alanine, and glycine were found to be substrates of SN2 as determined by uptake of radiolabeled compounds in SN2-expressing HRPE cells using the vaccinia virus expression system and 5mM leucine as an inhibitor of non-system N-mediated transport to reduce background uptake (Nakanishi T, Sugawara M, Huang W, Martindale RG, Leibach FH, Ganapathy ME, Prasad PD, Ganapathy V. Structure, function, and tissue expression pattern of human SN2, a subtype of the amino acid transport system N. Biochemical and Biophysical Research Communications 281(5):1343-8, 2001). Tissue Distribution Evidence: Nothern blot analysis of SN2 in multiple human tissues revealed four distinct hybridization signals (i.e., transcripts of multiple size: 2.6, 2.2, 1.9, and 1.4kb in length) that were shown to be expressed differentially in the different tissues examined. The highest signal was found in the stomach (major transcript: 1.4kb), followed by brain (2.2kb), lung (2.2kb), liver (2.6kb), spleen (2.2kb) and colon (2.2kb) (Nakanishi T, Sugawara M, Huang W, Martindale RG, Leibach FH, Ganapathy ME, Prasad PD, Ganapathy V. Structure, function, and tissue expression pattern of human SN2, a subtype of the amino acid transport system N. Biochemical and Biophysical Research Communications 281(5):1343-8, 2001).
Tissues:Stomach, brain, lung, liver, spleen, colon
Type:protein-coding
Sets:0
PharmGKB ID:PA38289
HPRD ID:06718
Substrates:Glutamine, asparagine, histidine, serine, alanine, glycine
Trivial Names:SN2, JM24, SNAT5, pp7194
Transcripts:NM_033518.2 [Chr.X(-): 48316927-48328644 GRCh37]
XM_005272694.1 [Chr.X(-): 48316927-48327479 GRCh37]
XM_005272695.1 [Chr.X(-): 48316927-48327472 GRCh37]
XM_005272697.1 [Chr.X(-): 48316927-48326811 GRCh37]
XM_005272698.1 [Chr.X(-): 48316927-48326675 GRCh37]
XM_005272696.1 [Chr.X(-): 48317093-48327473 GRCh37]
XM_005278075.1 [Chr.X(-): 697972-708513 GRCh37]
XM_005278074.1 [Chr.X(-): 697973-708520 GRCh37]
XM_005278077.1 [Chr.X(-): 697973-707853 GRCh37]
XM_005278078.1 [Chr.X(-): 697973-707717 GRCh37]
XM_005278076.1 [Chr.X(-): 698136-708514 GRCh37]
ENST00000317669 [Chr.X(-): 48316928-48328644 GRCh37]
ENST00000376875 [Chr.X(-): 48316922-48325880 GRCh37]
ENST00000376876 [Chr.X(-): 48316920-48328565 GRCh37]
ENST00000413668 [Chr.X(-): 48320508-48326775 GRCh37]
ENST00000416711 [Chr.X(-): 48321283-48327405 GRCh37]
ENST00000429543 [Chr.X(-): 48324402-48328631 GRCh37]
ENST00000440085 [Chr.X(-): 48320117-48326698 GRCh37]
ENST00000441948 [Chr.X(-): 48320138-48326944 GRCh37]
ENST00000462359 [Chr.X(-): 48317076-48319240 GRCh37]
ENST00000480105 [Chr.X(-): 48317606-48319363 GRCh37]
ENST00000488083 [Chr.X(-): 48324402-48327945 GRCh37]
ENST00000494034 [Chr.X(-): 48319372-48325259 GRCh37]
ENST00000497336 [Chr.X(-): 48316928-48325447 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 SLC38A5.

Variant Data

View all PMT variants for SLC38A5 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.