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Aliases for SLC7A2 Gene

Aliases for SLC7A2 Gene

  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 2 2 3
  • ATRC2 3 4 6
  • Low Affinity Cationic Amino Acid Transporter 2 3 4
  • HCAT2 3 6
  • CAT2 3 4
  • Cationic Amino Acid Transporter 2 3
  • Solute Carrier Family 7 Member 2 4
  • CAT-2 4

External Ids for SLC7A2 Gene

Previous Symbols for SLC7A2 Gene

  • ATRC2

Summaries for SLC7A2 Gene

Entrez Gene Summary for SLC7A2 Gene

  • 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]

GeneCards Summary for SLC7A2 Gene

SLC7A2 (Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 2) is a Protein Coding gene. Diseases associated with SLC7A2 include lysinuric protein intolerance. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include L-ornithine transmembrane transporter activity and L-lysine transmembrane transporter activity. An important paralog of this gene is SLC7A3.

UniProtKB/Swiss-Prot for SLC7A2 Gene

  • Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) (PubMed:9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport.

Gene Wiki entry for SLC7A2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A2 Gene

Genomics for SLC7A2 Gene

Genomic Location for SLC7A2 Gene

Start:
17,497,088 bp from pter
End:
17,570,573 bp from pter
Size:
73,486 bases
Orientation:
Plus strand

Genomic View for SLC7A2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC7A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC7A2 Gene

Regulatory Elements for SLC7A2 Gene

Proteins for SLC7A2 Gene

  • Protein details for SLC7A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52569-CTR2_HUMAN
    Recommended name:
    Cationic amino acid transporter 2
    Protein Accession:
    P52569
    Secondary Accessions:
    • B7ZL54
    • O15291
    • O15292
    • Q14CQ6
    • Q6NSZ7
    • Q86TC6

    Protein attributes for SLC7A2 Gene

    Size:
    658 amino acids
    Molecular mass:
    71673 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH69648.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI04906.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI13662.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI43584.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for SLC7A2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC7A2 Gene

Proteomics data for SLC7A2 Gene at MOPED

Post-translational modifications for SLC7A2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys461
  • Glycosylation at Asn157, Asn227, and Asn239

Other Protein References for SLC7A2 Gene

No data available for DME Specific Peptides for SLC7A2 Gene

Domains for SLC7A2 Gene

Gene Families for SLC7A2 Gene

Protein Domains for SLC7A2 Gene

Suggested Antigen Peptide Sequences for SLC7A2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P52569

UniProtKB/Swiss-Prot:

CTR2_HUMAN
Family:
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.:
    • P52569
genes like me logo Genes that share domains with SLC7A2: view

Function for SLC7A2 Gene

Molecular function for SLC7A2 Gene

GENATLAS Biochemistry: solute carrier family 7,member A2,high affinity sodium independent,cationic amino-acid transporter,expressed in stomach liver,skeletal muscle,skin,brain and lung,y+ type
UniProtKB/Swiss-Prot Function: Functions as permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine); the affinity for its substrates differs between isoforms created by alternative splicing. Isoform 1 functions as permease that mediates the transport of the cationic amino acids (arginine, lysine and ornithine), and it has much higher affinity for arginine than isoform 2. Isoform 2 functions as low-affinity, high capacity permease involved in the transport of the cationic amino acids (arginine, lysine and ornithine) (PubMed:9174363). May play a role in classical or alternative activation of macrophages via its role in arginine transport.

Gene Ontology (GO) - Molecular Function for SLC7A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000064 L-ornithine transmembrane transporter activity IBA --
GO:0005289 high-affinity arginine transmembrane transporter activity IEA --
GO:0005292 high-affinity lysine transmembrane transporter activity IEA --
GO:0015171 amino acid transmembrane transporter activity --
GO:0015174 basic amino acid transmembrane transporter activity TAS 8954799
genes like me logo Genes that share ontologies with SLC7A2: view

Phenotypes for SLC7A2 Gene

MGI mutant phenotypes for SLC7A2:
inferred from 2 alleles
GenomeRNAi human phenotypes for SLC7A2:
genes like me logo Genes that share phenotypes with SLC7A2: view

Animal Models for SLC7A2 Gene

MGI Knock Outs for SLC7A2:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SLC7A2 Gene

Localization for SLC7A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC7A2 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC7A2 Gene COMPARTMENTS Subcellular localization image for SLC7A2 gene
Compartment Confidence
plasma membrane 4
cytosol 3
extracellular 1

Gene Ontology (GO) - Cellular Components for SLC7A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8954799
GO:0016020 membrane TAS 8954799
GO:0016021 integral component of membrane --
genes like me logo Genes that share ontologies with SLC7A2: view

Pathways for SLC7A2 Gene

genes like me logo Genes that share pathways with SLC7A2: view

Interacting Proteins for SLC7A2 Gene

Gene Ontology (GO) - Biological Process for SLC7A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002537 nitric oxide production involved in inflammatory response IEA --
GO:0003333 amino acid transmembrane transport --
GO:0006520 cellular amino acid metabolic process TAS 8954799
GO:0006809 nitric oxide biosynthetic process IEA --
GO:0006810 transport TAS 8954799
genes like me logo Genes that share ontologies with SLC7A2: view

Compounds for SLC7A2 Gene

(2) Drugbank Compounds for SLC7A2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Lysine
  • (S)-2,6-diaminohexanoic acid
56-87-1 target
L-Ornithine
  • (S)-2,5-Diaminopentanoate
70-26-8 target

(2) Novoseek inferred chemical compound relationships for SLC7A2 Gene

Compound -log(P) Hits PubMed IDs
arginine 65.1 6
nitric oxide 48.9 7
genes like me logo Genes that share compounds with SLC7A2: view

Transcripts for SLC7A2 Gene

Unigene Clusters for SLC7A2 Gene

Solute carrier family 7 (cationic amino acid transporter, y+ system), member 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC7A2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2: -

Relevant External Links for SLC7A2 Gene

GeneLoc Exon Structure for
SLC7A2
ECgene alternative splicing isoforms for
SLC7A2

Expression for SLC7A2 Gene

mRNA expression in normal human tissues for SLC7A2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC7A2 Gene

This gene is overexpressed in Liver (8.2), Muscle - Skeletal (7.5), and Ovary (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SLC7A2 Gene

SOURCE GeneReport for Unigene cluster for SLC7A2 Gene Hs.448520

mRNA Expression by UniProt/SwissProt for SLC7A2 Gene

P52569-CTR2_HUMAN
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.
genes like me logo Genes that share expressions with SLC7A2: view

Orthologs for SLC7A2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC7A2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC7A2 35
  • 99.04 (n)
  • 98.78 (a)
SLC7A2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SLC7A2 35
  • 86.5 (n)
  • 89.84 (a)
SLC7A2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC7A2 35
  • 89.45 (n)
  • 92.09 (a)
SLC7A2 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc7a2 35
  • 86.4 (n)
  • 91.48 (a)
Slc7a2 16
Slc7a2 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC7A2 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A2 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc7a2 35
  • 87.01 (n)
  • 92.24 (a)
chicken
(Gallus gallus)
Aves SLC7A2 35
  • 74.64 (n)
  • 77.76 (a)
SLC7A2 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC7A2 36
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a2 35
  • 72.82 (n)
  • 77.56 (a)
zebrafish
(Danio rerio)
Actinopterygii slc7a2 35
  • 65.4 (n)
  • 69.94 (a)
slc7a2 36
  • 70 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010563 35
  • 52.18 (n)
  • 48.45 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG7255 35
  • 50.93 (n)
  • 46.85 (a)
CG13248 37
  • 40 (a)
CG11128 37
  • 43 (a)
CG7255 37
  • 47 (a)
CG5535 37
  • 45 (a)
worm
(Caenorhabditis elegans)
Secernentea F23F1.6 35
  • 52.9 (n)
  • 44.38 (a)
F23F1.6 37
  • 37 (a)
C50D2.2 37
  • 39 (a)
B0454.6 37
  • 38 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons CAT2 35
  • 46.82 (n)
  • 40.99 (a)
rice
(Oryza sativa)
Liliopsida Os12g0623500 35
  • 47.98 (n)
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 51 (a)
OneToMany
Species with no ortholog for SLC7A2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC7A2 Gene

ENSEMBL:
Gene Tree for SLC7A2 (if available)
TreeFam:
Gene Tree for SLC7A2 (if available)

Paralogs for SLC7A2 Gene

Paralogs for SLC7A2 Gene

Selected SIMAP similar genes for SLC7A2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with SLC7A2: view

Variants for SLC7A2 Gene

Sequence variations from dbSNP and Humsavar for SLC7A2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs10500 -- 17,568,635(+) ACTTT(C/T)TAAGT utr-variant-3-prime
rs13398 -- 17,568,554(+) AAGAG(A/G)CTATT utr-variant-3-prime
rs14108 -- 17,568,765(+) TTAAG(A/G)CCGGC utr-variant-3-prime
rs15239 -- 17,568,566(+) GTTTT(C/T)TTTTA utr-variant-3-prime
rs737039 -- 17,548,674(+) TTTCC(A/G)TAGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC7A2 Gene

Variant ID Type Subtype PubMed ID
nsv516180 CNV Loss 19592680
nsv831246 CNV Gain 17160897
dgv2224e1 CNV Complex 17122850
esv34867 CNV Loss 17911159
nsv507445 CNV Insertion 20534489
esv2666848 CNV Deletion 23128226
nsv8305 CNV Loss 18304495
nsv831247 CNV Gain 17160897
esv2736689 CNV Deletion 23290073
esv2736690 CNV Deletion 23290073
esv2736691 CNV Deletion 23290073
nsv890558 CNV Loss 21882294
esv989082 CNV Deletion 20482838

Relevant External Links for SLC7A2 Gene

HapMap Linkage Disequilibrium report
SLC7A2
Human Gene Mutation Database (HGMD)
SLC7A2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC7A2 Gene

Disorders for SLC7A2 Gene

(1) Novoseek inferred disease relationships for SLC7A2 Gene

Disease -log(P) Hits PubMed IDs
asthma 13.4 1

Relevant External Links for SLC7A2

Genetic Association Database (GAD)
SLC7A2
Human Genome Epidemiology (HuGE) Navigator
SLC7A2
genes like me logo Genes that share disorders with SLC7A2: view

No data available for UniProtKB/Swiss-Prot for SLC7A2 Gene

Publications for SLC7A2 Gene

  1. Molecular cloning, tissue distribution, and chromosomal localization of human cationic amino acid transporter 2 (HCAT2). (PMID: 8954799) Hoshide R. … Matsuda I. (Genomics 1996) 2 3 4 23
  2. Human cationic amino acid transporters hCAT-1, hCAT-2A, and hCAT-2B: three related carriers with distinct transport properties. (PMID: 9174363) Closs E.I. … Foerstermann U. (Biochemistry 1997) 3 4 23
  3. L-type voltage-dependent calcium channel alpha subunit 1C is a novel candidate gene associated with secondary hyperparathyroidism: an application of haplotype-based analysis for multiple linked single nucleotide polymorphisms. (PMID: 20424473) Yokoyama K. … Hosoya T. (Nephron Clin Pract 2010) 3 48
  4. The importance of cationic amino acid transporter expression in human skin. (PMID: 12787129) Schnorr O. … Kolb-Bachofen V. (J. Invest. Dermatol. 2003) 3 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for SLC7A2 Gene

Sources for SLC7A2 Gene

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