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    SLC7A2 solute carrier family 7 member 2 [ Homo sapiens (human) ]

    Gene ID: 6542, updated on 27-Nov-2024

    Summary

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    Official Symbol
    SLC7A2provided by HGNC
    Official Full Name
    solute carrier family 7 member 2provided by HGNC
    Primary source
    HGNC:HGNC:11060
    See related
    Ensembl:ENSG00000003989 MIM:601872; AllianceGenome:HGNC:11060
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CAT2; ATRC2; HCAT2; CAT-2A; CAT-2B; SLC7A2A; SLC7A2B
    Summary
    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]
    Expression
    Broad expression in liver (RPKM 59.2), thyroid (RPKM 35.6) and 15 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SLC7A2 in Genome Data Viewer
    Location:
    8p22
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (17494069..17570566)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (17761599..17837697)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (17354597..17428075)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724838 Neighboring gene myotubularin related protein 7 Neighboring gene Sharpr-MPRA regulatory region 14094 Neighboring gene ADAM metallopeptidase domain 24, pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17394687-17395188 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:17395189-17395688 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18961 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18962 Neighboring gene Sharpr-MPRA regulatory region 10035 Neighboring gene uncharacterized LOC107986919 Neighboring gene platelet derived growth factor receptor like Neighboring gene uncharacterized LOC124901891 Neighboring gene microtubule associated scaffold protein 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SLC7A2-Mediated Lysine Catabolism Inhibits Immunosuppression in Triple Negative Breast Cancer. Sun Y, et al. Crit Rev Eukaryot Gene Expr, 2024. PMID 38842202
    2. Identification of cysteine residues in human cationic amino acid transporter hCAT-2A that are targets for inhibition by N-ethylmaleimide. Beyer SR, et al. J Biol Chem, 2013 Oct 18. PMID 24019517, Free PMC Article
    3. Genetic variation in SLC7A2 interacts with calcium and magnesium intakes in modulating the risk of colorectal polyps. Sun P, et al. J Nutr Biochem, 2017 Sep. PMID 28501704, Free PMC Article
    4. SLC7A2 serves as a potential biomarker and therapeutic target for ovarian cancer. Sun T, et al. Aging (Albany NY), 2020 Jul 9. PMID 32647070, Free PMC Article
    5. Isolation of 45 exon-like fragments from 8p22-->p21.3, a region that is commonly deleted in hepatocellular, colorectal, and non-small cell lung carcinomas. Chinen K, et al. Cytogenet Cell Genet, 1996. PMID 9040790

    See all (48) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SLC7A2-Mediated Lysine Catabolism Inhibits Immunosuppression in Triple Negative Breast Cancer.
      Title: SLC7A2-Mediated Lysine Catabolism Inhibits Immunosuppression in Triple Negative Breast Cancer.
    2. Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington's disease.
      Title: Elevated SLC7A2 expression is associated with an abnormal neuroinflammatory response and nitrosative stress in Huntington's disease.
    3. Integrated Amino Acids and Transcriptome Analysis Reveals Arginine Transporter SLC7A2 Is a Novel Regulator of Myogenic Differentiation.
      Title: Integrated Amino Acids and Transcriptome Analysis Reveals Arginine Transporter SLC7A2 Is a Novel Regulator of Myogenic Differentiation.
    4. Lower SLC7A2 expression is associated with enhanced multidrug resistance, less immune infiltrates and worse prognosis of NSCLC.
      Title: Lower SLC7A2 expression is associated with enhanced multidrug resistance, less immune infiltrates and worse prognosis of NSCLC.
    5. SLC7A2 deficiency promotes hepatocellular carcinoma progression by enhancing recruitment of myeloid-derived suppressors cells.
      Title: SLC7A2 deficiency promotes hepatocellular carcinoma progression by enhancing recruitment of myeloid-derived suppressors cells.
    6. SLC7A2 serves as a potential biomarker and therapeutic target for ovarian cancer.
      Title: SLC7A2 serves as a potential biomarker and therapeutic target for ovarian cancer.
    7. Human cationic amino acid transporters are not affected by direct nitros(yl)ation.
      Title: Human cationic amino acid transporters are not affected by direct nitros(yl)ation.
    8. L-homoarginine is a substrate of the cationic amino acid transporters CAT1, CAT2A and CAT2B.
      Title: The prognostic biomarker L-homoarginine is a substrate of the cationic amino acid transporters CAT1, CAT2A and CAT2B.
    9. genetic association studies in population in Tennessee: Data suggest that an SNP in SLC7A2 (rs2720574) is associated with response to dietary calcium and magnesium in prevention of colorectal polyps and colorectal ademonas.
      Title: Genetic variation in SLC7A2 interacts with calcium and magnesium intakes in modulating the risk of colorectal polyps.
    10. Identification of cysteine residues in human cationic amino acid transporter hCAT-2A that are targets for inhibition by N-ethylmaleimide.
      Title: Identification of cysteine residues in human cationic amino acid transporter hCAT-2A that are targets for inhibition by N-ethylmaleimide.
    Submit: New GeneRIF Correction See all GeneRIFs (19)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-amino acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-arginine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-arginine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables L-lysine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables L-ornithine transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables amino acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		  
    enables basic amino acid transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in L-alpha-amino acid transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-amino acid transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-arginine import across plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in L-arginine import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-arginine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in L-arginine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-lysine transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in L-ornithine transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in amino acid import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in amino acid transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell junction IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    cationic amino acid transporter 2
    Names
    low affinity cationic amino acid transporter 2
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_030355.2 RefSeqGene

      Range
      8021..81499
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001008539.4 → NP_001008539.3  cationic amino acid transporter 2 isoform 2

      See identical proteins and their annotated locations for NP_001008539.3

      Status: REVIEWED

      Source sequence(s)
      AP006248
      Consensus CDS
      CCDS34852.1
      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
      UniProtKB/TrEMBL
      A0A1W2PR06
      Related
      ENSP00000430464.1, ENST00000522656.5
      Conserved Domains (1) summary
      TIGR00906
      Location:5 → 608
      2A0303; cationic amino acid transport permease

    2. NM_001164771.2 → NP_001158243.1  cationic amino acid transporter 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AP006248
      Consensus CDS
      CCDS55203.1
      UniProtKB/TrEMBL
      A0A1W2PR06
      Related
      ENSP00000004531.10, ENST00000004531.14
      Conserved Domains (2) summary
      TIGR00906
      Location:45 → 648
      2A0303; cationic amino acid transport permease
      pfam13906
      Location:596 → 646
      AA_permease_C; C-terminus of AA_permease

    3. NM_001370337.1 → NP_001357266.1  cationic amino acid transporter 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AP006248
      Consensus CDS
      CCDS94262.1
      UniProtKB/TrEMBL
      A0A1W2PR06, A0A9H4ATX5
      Related
      ENSP00000419873.2, ENST00000470360.5
      Conserved Domains (1) summary
      TIGR00906
      Location:5 → 607
      2A0303; cationic amino acid transport permease

    4. NM_001370338.1 → NP_001357267.1  cationic amino acid transporter 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AP006248
      Consensus CDS
      CCDS34852.1
      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
      UniProtKB/TrEMBL
      A0A1W2PR06
      Related
      ENSP00000419140.2, ENST00000494857.6
      Conserved Domains (1) summary
      TIGR00906
      Location:5 → 608
      2A0303; cationic amino acid transport permease

    5. NM_003046.6 → NP_003037.4  cationic amino acid transporter 2 isoform 1

      See identical proteins and their annotated locations for NP_003037.4

      Status: REVIEWED

      Source sequence(s)
      AP006248
      Consensus CDS
      CCDS6002.2
      UniProtKB/TrEMBL
      A0A1W2PR06
      Related
      ENSP00000381164.3, ENST00000398090.3
      Conserved Domains (2) summary
      TIGR00906
      Location:45 → 647
      2A0303; cationic amino acid transport permease
      pfam13906
      Location:595 → 645
      AA_permease_C; C-terminus of AA_permease

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      17494069..17570566
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047422113.1 → XP_047278069.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6

    2. XM_047422114.1 → XP_047278070.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6

    3. XM_017013746.2 → XP_016869235.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
      UniProtKB/TrEMBL
      A0A1W2PR06
      Conserved Domains (1) summary
      TIGR00906
      Location:5 → 608
      2A0303; cationic amino acid transport permease

    4. XM_005273612.5 → XP_005273669.1  cationic amino acid transporter 2 isoform X1

      See identical proteins and their annotated locations for XP_005273669.1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
      UniProtKB/TrEMBL
      A0A1W2PR06
      Conserved Domains (1) summary
      TIGR00906
      Location:5 → 608
      2A0303; cationic amino acid transport permease

    5. XM_047422115.1 → XP_047278071.1  cationic amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      A0A9H4ATX5

    6. XM_047422116.1 → XP_047278072.1  cationic amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      A0A9H4ATX5

    7. XM_005273611.5 → XP_005273668.1  cationic amino acid transporter 2 isoform X1

      See identical proteins and their annotated locations for XP_005273668.1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
      UniProtKB/TrEMBL
      A0A1W2PR06
      Conserved Domains (1) summary
      TIGR00906
      Location:5 → 608
      2A0303; cationic amino acid transport permease

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      17761599..17837697
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054361030.1 → XP_054217005.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6

    2. XM_054361028.1 → XP_054217003.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6

    3. XM_054361031.1 → XP_054217006.1  cationic amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      A0A9H4ATX5

    4. XM_054361032.1 → XP_054217007.1  cationic amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      A0A9H4ATX5

    5. XM_054361029.1 → XP_054217004.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P52569.2 GenPept UniProtKB/Swiss-Prot:P52569

    Gene LinkOut

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