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Aliases for SLC7A2 Gene

Aliases for SLC7A2 Gene

  • Solute Carrier Family 7 Member 2 2 3 4 5
  • Solute Carrier Family 7 (Cationic Amino Acid Transporter, Y+ System), Member 2 2 3
  • Low Affinity Cationic Amino Acid Transporter 2 3 4
  • ATRC2 3 4
  • CAT2 3 4
  • Cationic Amino Acid Transporter 2 3
  • CAT-2 4
  • HCAT2 3

External Ids for SLC7A2 Gene

Previous HGNC Symbols for SLC7A2 Gene

  • ATRC2

Previous GeneCards Identifiers for SLC7A2 Gene

  • GC08P017289
  • GC08P017475
  • GC08P017406
  • GC08P017440
  • GC08P017354
  • GC08P015899

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 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 Amino acid transport across the plasma membrane. GO annotations related to this gene include amino acid transmembrane transporter activity and basic amino acid transmembrane transporter activity. An important paralog of this gene is SLC7A1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC7A2 Gene

Genomics for SLC7A2 Gene

Regulatory Elements for SLC7A2 Gene

Enhancers for SLC7A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G017527 1.2 FANTOM5 ENCODE dbSUPER 25.2 +31.1 31086 1.3 ZNF121 MBD2 CTBP1 ZFHX2 PRDM6 BCL6B ZNF600 FOXP2 WT1 EGR2 SLC7A2 ENSG00000279932 GC08P017569
GH08G017517 0.9 ENCODE dbSUPER 22.3 +21.3 21292 1.2 JUN ZNF140 CEBPB EP300 ATF2 JUND ZNF692 ATF3 ZNF629 CREB1 SLC7A2 ENSG00000279932 GC08P017569
GH08G017521 0.8 Ensembl ENCODE dbSUPER 20.8 +24.7 24715 0.9 SLC7A2 ENSG00000279932 GC08P017569
GH08G017525 1.1 ENCODE dbSUPER 14.8 +28.9 28918 1.1 HDAC1 FOXA2 MAX CEBPG ZNF644 RAD21 YY1 TEAD3 SCRT2 TRIM24 SLC7A2 PDGFRL ENSG00000279932 GC08P017569
GH08G017449 0.7 ENCODE 11.6 -46.2 -46207 2.0 ZNF146 ZNF280D LEF1 L3MBTL2 POLR2A RCOR2 ZNF580 FOXP2 SMAD4 KDM1A SLC7A2 ADAM24P MTMR7
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SLC7A2 on UCSC Golden Path with GeneCards custom track

Promoters for SLC7A2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000221528 412 2201 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 ZNF48 ZNF121 GATA2 FOS

Genomic Location for SLC7A2 Gene

Chromosome:
8
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

Genes around SLC7A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC7A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC7A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for SLC7A2 Gene

  • Ubiquitination at Lys461
  • Glycosylation at isoforms=2, 3157, Asn227, and Asn239
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SLC7A2 Gene

Domains & Families 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 :
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
Family:
  • Belongs to the amino acid-polyamine-organocation (APC) superfamily. Cationic amino acid transporter (CAT) (TC 2.A.3.3) family.
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:0005289 high-affinity arginine transmembrane transporter activity IEA --
GO:0005292 high-affinity lysine transmembrane transporter activity IEA --
GO:0015171 amino acid transmembrane transporter activity TAS --
GO:0015174 basic amino acid transmembrane transporter activity TAS 8954799
GO:0015181 arginine transmembrane transporter activity IEA --
genes like me logo Genes that share ontologies with SLC7A2: view
genes like me logo Genes that share phenotypes with SLC7A2: view

Animal Models for SLC7A2 Gene

MGI Knock Outs for SLC7A2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC7A2 gene
Compartment Confidence
plasma membrane 5

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 IEA --
GO:0030054 cell junction IDA --
genes like me logo Genes that share ontologies with SLC7A2: view

Pathways & Interactions for SLC7A2 Gene

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

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 IEA --
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

No data available for SIGNOR curated interactions for SLC7A2 Gene

Drugs & Compounds for SLC7A2 Gene

(5) Drugs for SLC7A2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
L-Lysine Approved Nutra Full agonist, Agonist, Target 0
L-ornithine Approved Nutra Full agonist, Agonist, Target 0
Ornithine Nutra 71
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x8.2), Muscle - Skeletal (x7.5), and Ovary (x4.9).

Protein differential expression in normal tissues from HIPED for SLC7A2 Gene

This gene is overexpressed in Liver (22.6), Placenta (13.5), Testis (9.8), and Pancreas (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC7A2 Gene



Protein tissue co-expression partners for SLC7A2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC7A2 Gene:

SLC7A2

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.

Evidence on tissue expression from TISSUES for SLC7A2 Gene

  • Liver(4.6)
  • Muscle(4.5)
  • Intestine(4.3)
  • Thyroid gland(2.7)
  • Pancreas(2.3)
genes like me logo Genes that share expression patterns with SLC7A2: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC7A2 Gene

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 34 35
  • 99.04 (n)
dog
(Canis familiaris)
Mammalia SLC7A2 34 35
  • 89.45 (n)
rat
(Rattus norvegicus)
Mammalia Slc7a2 34
  • 87.01 (n)
cow
(Bos Taurus)
Mammalia SLC7A2 34 35
  • 86.5 (n)
mouse
(Mus musculus)
Mammalia Slc7a2 34 16 35
  • 86.4 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia SLC7A2 35
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC7A2 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC7A2 34 35
  • 74.64 (n)
lizard
(Anolis carolinensis)
Reptilia SLC7A2 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia slc7a2 34
  • 72.82 (n)
zebrafish
(Danio rerio)
Actinopterygii slc7a2 34 35
  • 65.4 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010563 34
  • 52.18 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG7255 36 34
  • 50.93 (n)
CG5535 36
  • 45 (a)
CG11128 36
  • 43 (a)
CG13248 36
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea F23F1.6 36 34
  • 52.9 (n)
C50D2.2 36
  • 39 (a)
B0454.6 36
  • 38 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons CAT2 34
  • 46.82 (n)
rice
(Oryza sativa)
Liliopsida Os12g0623500 34
  • 47.98 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
OneToMany
Species where no ortholog for SLC7A2 was found in the sources mined by GeneCards:
  • 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

(4) 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
rs1000045657 -- 17,495,616(+) ACTAT(C/G)TCGGC intron-variant, upstream-variant-2KB
rs1000155886 -- 17,503,367(+) ATTGA(A/C)AAAAA intron-variant
rs1000175570 -- 17,545,605(+) GTTGG(C/G/T)CAGGC intron-variant
rs1000198678 -- 17,562,335(+) CCAGT(A/T)GCTGG intron-variant
rs1000228886 -- 17,567,515(+) CAACG(G/T)ATGTG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv2666848 CNV deletion 23128226
esv2736689 CNV deletion 23290073
esv2736690 CNV deletion 23290073
esv2736691 CNV deletion 23290073
esv2759600 CNV loss 17122850
esv2764066 CNV gain+loss 21179565
esv3409278 CNV duplication 20981092
esv34867 CNV loss 17911159
esv3616489 CNV loss 21293372
esv3616490 CNV loss 21293372
esv3891362 CNV loss 25118596
esv989082 CNV deletion 20482838
nsv1024271 CNV loss 25217958
nsv1118045 CNV deletion 24896259
nsv1121686 CNV deletion 24896259
nsv1136000 CNV deletion 24896259
nsv1145193 CNV deletion 24896259
nsv1151657 CNV deletion 26484159
nsv507445 OTHER sequence alteration 20534489
nsv516180 CNV loss 19592680
nsv610680 CNV loss 21841781
nsv8305 CNV loss 18304495
nsv831246 CNV gain 17160897
nsv831247 CNV gain 17160897
nsv956084 CNV deletion 24416366

Variation tolerance for SLC7A2 Gene

Residual Variation Intolerance Score: 16.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.47; 71.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC7A2 Gene

Human Gene Mutation Database (HGMD)
SLC7A2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC7A2

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

Disorders for SLC7A2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for SLC7A2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lysinuric protein intolerance
  • dibasic amino aciduria ii
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for SLC7A2

Genetic Association Database (GAD)
SLC7A2
Human Genome Epidemiology (HuGE) Navigator
SLC7A2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC7A2
genes like me logo Genes that share disorders with SLC7A2: view

No data available for UniProtKB/Swiss-Prot and Genatlas 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 22 64
  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 22 64
  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 46 64
  4. 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 64
  5. The importance of cationic amino acid transporter expression in human skin. (PMID: 12787129) Schnorr O. … Kolb-Bachofen V. (J. Invest. Dermatol. 2003) 3 22 64

Products for SLC7A2 Gene

Sources for SLC7A2 Gene

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