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

Gene ID: 6542, updated on 3-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
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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 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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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

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