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    SLC3A2 solute carrier family 3 member 2 [ Homo sapiens (human) ]

    Gene ID: 6520, updated on 10-Jan-2021

    Summary

    Official Symbol
    SLC3A2provided by HGNC
    Official Full Name
    solute carrier family 3 member 2provided by HGNC
    Primary source
    HGNC:HGNC:11026
    See related
    Ensembl:ENSG00000168003 MIM:158070
    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
    4F2; CD98; MDU1; 4F2HC; 4T2HC; NACAE; CD98HC
    Summary
    This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010]
    Expression
    Ubiquitous expression in kidney (RPKM 68.6), bone marrow (RPKM 41.5) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See SLC3A2 in Genome Data Viewer
    Location:
    11q12.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (62856109..62888860)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (62623484..62656355)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene small nucleolar RNA host gene 1 Neighboring gene small nucleolar RNA, C/D box 26 Neighboring gene small nucleolar RNA, C/D box 25 Neighboring gene uncharacterized LOC105369333 Neighboring gene cholinergic receptor muscarinic 1 Neighboring gene RNA, 7SL, cytoplasmic 259, pseudogene

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of SLC3A2 PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env Antibodies raised against the human fusion regulatory protein 1 (FRP-1; CD98) molecule suppress cell fusion mediated by HIV-1 gp160 PubMed
    env The functional interaction between CD98 and CD147 is involved in the regulation of HIV-1 gp160-mediated cell fusion PubMed
    Pr55(Gag) gag Cellular biotinylated 4F2 cell-surface antigen heavy chain (4F2HC) protein is incorporated into HIV-1 Gag virus-like particles PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-alanine transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    L-leucine transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    RNA binding HDA PubMed 
    aromatic amino acid transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    cadherin binding HDA PubMed 
    calcium:sodium antiporter activity TAS
    Traceable Author Statement
    more info
    PubMed 
    catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    double-stranded RNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    neutral amino acid transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    neutral amino acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    L-alanine import across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    L-alpha-amino acid transmembrane transport TAS
    Traceable Author Statement
    more info
     
    L-leucine import across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    L-leucine import across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    amino acid transport TAS
    Traceable Author Statement
    more info
    PubMed 
    calcium ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    carbohydrate metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    leucine import across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    phenylalanine transport IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    response to exogenous dsRNA IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sodium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    tryptophan transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    amino acid transport complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    basal plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cell surface HDA PubMed 
    cell surface IDA
    Inferred from Direct Assay
    more info
    PubMed 
    extracellular exosome HDA PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    lysosomal membrane IEA
    Inferred from Electronic Annotation
    more info
     
    melanosome IEA
    Inferred from Electronic Annotation
    more info
     
    membrane HDA PubMed 
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    4F2 cell-surface antigen heavy chain
    Names
    CD98 heavy chain
    antigen defined by monoclonal antibody 4F2, heavy chain
    antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43
    lymphocyte activation antigen 4F2 large subunit
    monoclonal antibody 44D7
    solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2
    solute carrier family 3 (amino acid transporter heavy chain), member 2

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Data Table view

    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.

    mRNA and Protein(s)

    1. NM_001012662.3NP_001012680.1  4F2 cell-surface antigen heavy chain isoform b

      See identical proteins and their annotated locations for NP_001012680.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (b).
      Source sequence(s)
      AA594112, AK025584, BC001061, DC395235
      Consensus CDS
      CCDS31588.1
      UniProtKB/Swiss-Prot
      P08195
      UniProtKB/TrEMBL
      J3KPF3
      Related
      ENSP00000367123.2, ENST00000377891.6
      Conserved Domains (4) summary
      cd11345
      Location:208537
      AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
      COG0366
      Location:238597
      AmyA; Glycosidase [Carbohydrate transport and metabolism]
      pfam11941
      Location:520625
      DUF3459; Domain of unknown function (DUF3459)
      pfam16028
      Location:161225
      SLC3A2_N; Solute carrier family 3 member 2 N-terminus
    2. NM_001012664.3NP_001012682.1  4F2 cell-surface antigen heavy chain isoform e

      See identical proteins and their annotated locations for NP_001012682.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks two alternate in-frame exons, compared to variant 2, resulting in a shorter protein (isoform e).
      Source sequence(s)
      AA594112, BC003000, DC395235
      Consensus CDS
      CCDS31589.1
      UniProtKB/Swiss-Prot
      P08195
      Related
      ENSP00000367121.2, ENST00000377889.6
      Conserved Domains (4) summary
      cd11345
      Location:145474
      AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
      COG0366
      Location:175534
      AmyA; Glycosidase [Carbohydrate transport and metabolism]
      pfam11941
      Location:457562
      DUF3459; Domain of unknown function (DUF3459)
      pfam16028
      Location:98162
      SLC3A2_N; Solute carrier family 3 member 2 N-terminus
    3. NM_001013251.3NP_001013269.1  4F2 cell-surface antigen heavy chain isoform f

      See identical proteins and their annotated locations for NP_001013269.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) differs in the 5' UTR and lacks several in-frame exons of the 5' coding region, compared to variant 2. These differences cause translation initiation at a downstream ATG and an isoform (f) with a shorter N-terminus compared to isoform b.
      Source sequence(s)
      AB018010, BX443653
      Consensus CDS
      CCDS31590.1
      UniProtKB/Swiss-Prot
      P08195
      Related
      ENSP00000340815.7, ENST00000338663.11
      Conserved Domains (3) summary
      cd11345
      Location:106435
      AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
      pfam11941
      Location:418523
      DUF3459; Domain of unknown function (DUF3459)
      pfam16028
      Location:59123
      SLC3A2_N; Solute carrier family 3 member 2 N-terminus
    4. NM_002394.6NP_002385.3  4F2 cell-surface antigen heavy chain isoform c

      See identical proteins and their annotated locations for NP_002385.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate in-frame exon and lacks an alternate exon in the 5' coding region, compared to variant 2, resulting in a shorter protein (isoform c).
      Source sequence(s)
      AA594112, BC001061
      Consensus CDS
      CCDS8039.2
      UniProtKB/Swiss-Prot
      P08195
      Related
      ENSP00000367122.2, ENST00000377890.6
      Conserved Domains (4) summary
      cd11345
      Location:207536
      AmyAc_SLC3A2; Alpha amylase catalytic domain found in solute carrier family 3 member 2 proteins
      COG0366
      Location:237596
      AmyA; Glycosidase [Carbohydrate transport and metabolism]
      pfam11941
      Location:519624
      DUF3459; Domain of unknown function (DUF3459)
      pfam16028
      Location:160224
      SLC3A2_N; Solute carrier family 3 member 2 N-terminus

    RNA

    1. NR_037193.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) has multiple differences compared to variant 2. This variant is represented as non-coding because it lacks a large portion of the coding region, including the translational start codon, found in variant 2.
      Source sequence(s)
      AA594112, AF055031, AK308797, BC001061
      Related
      ENST00000536981.5

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20201120

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

      Range
      62856109..62888860
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001012661.1: Suppressed sequence

      Description
      NM_001012661.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_001012663.1: Suppressed sequence

      Description
      NM_001012663.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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