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

    Gene ID: 6542, updated on 28-Oct-2024

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    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

    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)

    NEW Try the new Transcript table

    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_001008539.4NP_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:5608
      2A0303; cationic amino acid transport permease
    2. NM_001164771.2NP_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:45648
      2A0303; cationic amino acid transport permease
      pfam13906
      Location:596646
      AA_permease_C; C-terminus of AA_permease
    3. NM_001370337.1NP_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:5607
      2A0303; cationic amino acid transport permease
    4. NM_001370338.1NP_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:5608
      2A0303; cationic amino acid transport permease
    5. NM_003046.6NP_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:45647
      2A0303; cationic amino acid transport permease
      pfam13906
      Location:595645
      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_047422113.1XP_047278069.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
    2. XM_047422114.1XP_047278070.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
    3. XM_017013746.2XP_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:5608
      2A0303; cationic amino acid transport permease
    4. XM_005273612.5XP_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:5608
      2A0303; cationic amino acid transport permease
    5. XM_047422115.1XP_047278071.1  cationic amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      A0A9H4ATX5
    6. XM_047422116.1XP_047278072.1  cationic amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      A0A9H4ATX5
    7. XM_005273611.5XP_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:5608
      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_054361030.1XP_054217005.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
    2. XM_054361028.1XP_054217003.1  cationic amino acid transporter 2 isoform X1

      UniProtKB/Swiss-Prot
      B7ZL54, O15291, O15292, P52569, Q14CQ6, Q6NSZ7, Q86TC6
    3. XM_054361031.1XP_054217006.1  cationic amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      A0A9H4ATX5
    4. XM_054361032.1XP_054217007.1  cationic amino acid transporter 2 isoform X2

      UniProtKB/TrEMBL
      A0A9H4ATX5
    5. XM_054361029.1XP_054217004.1  cationic amino acid transporter 2 isoform X1

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