Human Gene SLC7A2 (ENST00000522656.5) from GENCODE V44
  Description: Low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine). Plays a regulatory role in classical or alternative activation of macrophages (By similarity). (from UniProt P52569)
RefSeq Summary (NM_001008539): The protein encoded by this gene is a cationic amino acid transporter and a member of the APC (amino acid-polyamine-organocation) family of transporters. The encoded membrane protein is responsible for the cellular uptake of arginine, lysine and ornithine. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments.
Gencode Transcript: ENST00000522656.5
Gencode Gene: ENSG00000003989.18
Transcript (Including UTRs)
   Position: hg38 chr8:17,497,091-17,565,274 Size: 68,184 Total Exon Count: 12 Strand: +
Coding Region
   Position: hg38 chr8:17,543,340-17,565,146 Size: 21,807 Coding Exon Count: 11 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:17,497,091-17,565,274)mRNA (may differ from genome)Protein (658 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblExonPrimerGencodeGeneCardsHGNC
HPRDLynxMalacardsMGIneXtProtPubMed
ReactomeUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: CTR2_HUMAN
DESCRIPTION: RecName: Full=Low affinity cationic amino acid transporter 2; Short=CAT-2; Short=CAT2; AltName: Full=Solute carrier family 7 member 2;
FUNCTION: Low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine). Plays a regulatory role in classical or alternative activation of macrophages (By similarity).
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed at high levels in the skeletal muscle, placenta and ovary. Expressed at intermediate levels in the liver and pancreas and at low levels in the kidney and heart.
SIMILARITY: Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
SEQUENCE CAUTION: Sequence=AAH69648.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI04906.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI13662.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI43584.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SLC7A2
Diseases sorted by gene-association score: lysinuric protein intolerance (9)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 54.62 RPKM in Liver
Total median expression: 514.89 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.20169-0.433 Picture PostScript Text
3' UTR -25.80128-0.202 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002293 - AA/rel_permease1
IPR015606 - Cat-AATrans
IPR004755 - Cat_AA_permease

ModBase Predicted Comparative 3D Structure on P52569
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000064 L-ornithine transmembrane transporter activity
GO:0005289 high-affinity arginine transmembrane transporter activity
GO:0005292 high-affinity lysine transmembrane transporter activity
GO:0015171 amino acid transmembrane transporter activity
GO:0015174 basic amino acid transmembrane transporter activity
GO:0015181 arginine transmembrane transporter activity
GO:0015189 L-lysine transmembrane transporter activity
GO:0022857 transmembrane transporter activity
GO:0061459 L-arginine transmembrane transporter activity
GO:0097626 low-affinity L-arginine transmembrane transporter activity
GO:0097627 high-affinity L-ornithine transmembrane transporter activity

Biological Process:
GO:0002537 nitric oxide production involved in inflammatory response
GO:0006520 cellular amino acid metabolic process
GO:0006809 nitric oxide biosynthetic process
GO:0006865 amino acid transport
GO:0015809 arginine transport
GO:0042116 macrophage activation
GO:0043030 regulation of macrophage activation
GO:0050727 regulation of inflammatory response
GO:0055085 transmembrane transport
GO:0097638 L-arginine import across plasma membrane
GO:0097639 L-lysine import across plasma membrane
GO:0097640 L-ornithine import across plasma membrane
GO:1902023 L-arginine transport
GO:1903352 L-ornithine transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030054 cell junction


-  Descriptions from all associated GenBank mRNAs
  AK314287 - Homo sapiens cDNA, FLJ95043.
U76368 - Human cationic amino acid transporter-2A (ATRC2) mRNA, complete cds.
BC069648 - Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2, mRNA (cDNA clone MGC:97225 IMAGE:7262473), complete cds.
BC113661 - Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2, mRNA (cDNA clone MGC:142221 IMAGE:8322713), complete cds.
BC104905 - Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2, mRNA (cDNA clone MGC:132565 IMAGE:8143908), complete cds.
BC143583 - Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2, mRNA (cDNA clone MGC:177111 IMAGE:9052094), complete cds.
KJ901743 - Synthetic construct Homo sapiens clone ccsbBroadEn_11137 SLC7A2 gene, encodes complete protein.
D29990 - Homo sapiens mRNA for cationic amino acid transporter 2, complete cds.
AL832016 - Homo sapiens mRNA; cDNA DKFZp451F074 (from clone DKFZp451F074).
U76369 - Human cationic amino acid transporter-2B (ATRC2) mRNA, partial cds.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P52569 (Reactome details) participates in the following event(s):

R-HSA-375768 Metabolism of nitrogenous molecules
R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-425374 Amino acid and oligopeptide SLC transporters
R-HSA-425393 Metabolism of nitrogenous molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules
R-HSA-375790 Metabolism of nitrogenous molecules
R-HSA-352230 Amino acid transport across the plasma membrane
R-HSA-425374 Amino acid and oligopeptide SLC transporters
R-HSA-425393 Metabolism of nitrogenous molecules
R-HSA-425407 SLC-mediated transmembrane transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: AK314287, ATRC2, B7ZL54, CAT2, CTR2_HUMAN, ENST00000522656.1, ENST00000522656.2, ENST00000522656.3, ENST00000522656.4, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6, uc011kyc.1, uc011kyc.2, uc011kyc.3
UCSC ID: ENST00000522656.5
RefSeq Accession: NM_001008539
Protein: P52569 (aka CTR2_HUMAN)
CCDS: CCDS34852.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.