UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:SLC7A8
HGNC Symbol:SLC7A8
HGNC Description:solute carrier family 7 (amino acid transporter light chain, L system), member 8
HGNC ID:11066
Superfamily:SLC
Chromosome:Chr.14(-): 23594504-23652869 GRCh37
Location:14q11.2
OMIM:604235
OMIM Phenotype:None
Accessions:NM_012244
Nucleotide RefSeq:NM_012244
Protein RefSeq:NP_036376
Entrez:23428
Ensembl:ENSG00000092068
Isoforms:4
Evidence:Substrate In Vitro Evidence: When coinjected with 4F2hc cRNA in X. laevis oocytes, LAT2 cRNA induced the sodium-independent uptake of L-leucine and L-alanine (Pineda M, Fernandez E, Torrents D, Estevez R, Lopez C, Camps M, Lloberas J, Zorzano A, Palacin M. Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids. J Biol Chem 274(28): 19738-44, 1999). Transport of L-leucine was inhibited by glycine, alanine, serine, cysteine, threonine, isoleucine, methionine, phenylalanine, tyrosine, histidine, tryptamine, valine, asparagines, and glutamine. Tissue Distribution Evidence: LAT2 mRNA was found to be highly expressed in kidney, with moderate expression in placenta and low expression in brain, liver, spleen, skeletal muscle, heart, small intestine, and lung (Pineda M, Fernandez E, Torrents D, Estevez R, Lopez C, Camps M, Lloberas J, Zorzano A, Palacin M. Identification of a membrane protein, LAT-2, that Co-expresses with 4F2 heavy chain, an L-type amino acid transport activity with broad specificity for small and large zwitterionic amino acids. J Biol Chem 274(28): 19738-44, 1999).
Tissues:Kidney (high); placenta (moderate); brain, liver, spleen, skeletal muscle, heart, small intestine, lung (low)
Type:protein-coding
Sets:V
PharmGKB ID:PA35926
HPRD ID:11971
Substrates:L-leucine, L-alanine
Trivial Names:LAT2, LPI-PC1
Transcripts:NM_012244.3 [Chr.14(-): 23594504-23652869 GRCh37]
NM_182728.2 [Chr.14(-): 23594504-23623659 GRCh37]
NM_001267036.1 [Chr.14(-): 23594504-23624667 GRCh37]
NM_001267037.1 [Chr.14(-): 23594504-23623659 GRCh37]
ENST00000316902 [Chr.14(-): 23594504-23652849 GRCh37]
ENST00000339733 [Chr.14(-): 23594504-23624518 GRCh37]
ENST00000397310 [Chr.14(-): 23594506-23599352 GRCh37]
ENST00000422941 [Chr.14(-): 23595968-23623602 GRCh37]
ENST00000453702 [Chr.14(-): 23595877-23623610 GRCh37]
ENST00000469263 [Chr.14(-): 23594511-23652850 GRCh37]
ENST00000524758 [Chr.14(-): 23635618-23652883 GRCh37]
ENST00000525062 [Chr.14(-): 23635667-23652859 GRCh37]
ENST00000528186 [Chr.14(-): 23598807-23607420 GRCh37]
ENST00000528806 [Chr.14(-): 23598470-23607228 GRCh37]
ENST00000528860 [Chr.14(-): 23595968-23623602 GRCh37]
ENST00000529705 [Chr.14(-): 23595960-23624667 GRCh37]
ENST00000532568 [Chr.14(-): 23608633-23616141 GRCh37]
Annotation History:View Events (26)

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 SLC7A8.

Variant Data

View all PMT variants for SLC7A8 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.