UCSF Pharmacogenetics of Membrane Transporters
Gene View
Common Name:CAT2
HGNC Symbol:SLC7A2
HGNC Description:solute carrier family 7 (cationic amino acid transporter, y+ system), member 2
HGNC ID:11060
Superfamily:SLC
Chromosome:Chr.8(+): 17354597-17428077 GRCh37
Location:8p22
OMIM:601872
OMIM Phenotype:None
Accessions:NM_003046
Nucleotide RefSeq:NM_001008539
Protein RefSeq:NP_001008539
Entrez:6542
Ensembl:ENSG00000003989
Isoforms:7
Evidence:Substrate In Vitro Evidence: Cationic amino acids, lower affinity than CAT-1, less sensitive to trans stimulation (in oocytes) Closs et al 1997, Biochemistry, Vol 36 (21), p.6462-68 Substrate In Vivo Evidence: CAT-2 knockout mouse has no apparent phenotype Verrey et al 2003, Pflugers Arch Tissue Distribution Evidence: CAT2A - liver, skeletal muscle pancreas (Northern Blot) CAT2B - inducible in many cell types Hatori et al 1999, Am J Physiol, Vol 276 (6 Pt 2), H2020-8 Verrey et al 2003, Pflugers Arch
Tissues:skeletal muscle, pancreas
Type:protein-coding
Sets:V
PharmGKB ID:PA35920
HPRD ID:03524
Substrates:cationic L-amino acids
Trivial Names:CAT2, ATRC2, HCAT2
Transcripts:NM_001008539.3 [Chr.8(+): 17354597-17428077 GRCh37]
NM_003046.5 [Chr.8(+): 17396286-17428077 GRCh37]
NM_001164771.1 [Chr.8(+): 17396286-17428077 GRCh37]
XM_005273610.1 [Chr.8(+): 17354599-17428025 GRCh37]
XM_005273612.1 [Chr.8(+): 17354599-17428025 GRCh37]
XM_005273611.1 [Chr.8(+): 17358797-17428025 GRCh37]
XM_005273609.1 [Chr.8(+): 17378162-17428025 GRCh37]
ENST00000004531 [Chr.8(+): 17396286-17428070 GRCh37]
ENST00000398090 [Chr.8(+): 17396286-17428070 GRCh37]
ENST00000470360 [Chr.8(+): 17354724-17428082 GRCh37]
ENST00000494857 [Chr.8(+): 17354597-17428082 GRCh37]
ENST00000522656 [Chr.8(+): 17354600-17422783 GRCh37]
Annotation History:View Events (36)

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 SLC7A2.

Variant Data

View all PMT variants for SLC7A2 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.