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    SLC7A8 solute carrier family 7 member 8 [ Homo sapiens (human) ]

    Gene ID: 23428, updated on 12-Feb-2024

    Summary

    Official Symbol
    SLC7A8provided by HGNC
    Official Full Name
    solute carrier family 7 member 8provided by HGNC
    Primary source
    HGNC:HGNC:11066
    See related
    Ensembl:ENSG00000092068 MIM:604235; AllianceGenome:HGNC:11066
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LAT2; LPI-PC1
    Summary
    Enables several functions, including neutral amino acid transmembrane transporter activity; thyroid hormone transmembrane transporter activity; and toxin transmembrane transporter activity. Involved in L-alanine import across plasma membrane; L-leucine import across plasma membrane; and thyroid hormone transport. Located in plasma membrane. Part of basolateral plasma membrane and microvillus membrane. [provided by Alliance of Genome Resources, Apr 2022]
    Annotation information
    Note: LAT2 (Gene ID: 7462) and SLC7A8 (Gene ID: 23428) share the LAT2 symbol/alias in common. LAT2 is sometimes used as an alternative name for solute carrier family 7 member 8 (SLC7A8), which can be confused with the official symbol for linker for activation of T cells family member 2 (LAT2). [05 Jul 2018]
    Expression
    Broad expression in kidney (RPKM 77.2), prostate (RPKM 18.0) and 18 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See SLC7A8 in Genome Data Viewer
    Location:
    14q11.2
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (23125295..23183660, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (17325945..17384328, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (23594504..23652869, complement)

    Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene chromosome 14 open reading frame 119 Neighboring gene Sharpr-MPRA regulatory region 2207 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23583091-23583809 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr14:23583975-23585174 Neighboring gene ciliated left-right organizer metallopeptidase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23589263-23589793 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8166 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8167 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23592799-23593298 Neighboring gene CCAAT enhancer binding protein epsilon Neighboring gene Sharpr-MPRA regulatory region 2117 Neighboring gene RNA, U6 small nuclear 1138, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:23641243-23641744 Neighboring gene uncharacterized LOC105370406 Neighboring gene ring finger protein 212B Neighboring gene H3K27ac hESC enhancer GRCh37_chr14:23667234-23668018 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr14:23675605-23676210 Neighboring gene ribosomal protein L39 pseudogene 2

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-alanine transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables L-amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables L-leucine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables L-leucine transmembrane transporter activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    enables amino acid transmembrane transporter activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables amino acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables amino acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables antiporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables glycine transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables neutral L-amino acid transmembrane transporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables neutral L-amino acid transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables neutral L-amino acid transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables neutral L-amino acid transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables organic cation transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables peptide antigen binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein heterodimerization activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables thyroid hormone transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables thyroid hormone transmembrane transporter activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables toxin transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in L-alanine import across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in L-leucine import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in L-leucine import across plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    involved_in amino acid import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in amino acid transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in amino acid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in amino acid transport TAS
    Traceable Author Statement
    more info
     
    involved_in glycine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in leucine import across plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in leucine import across plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in leucine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neutral amino acid transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neutral amino acid transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in neutral amino acid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in organic cation transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in proline transmembrane transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in thyroid hormone transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in thyroid hormone transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in toxin transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in transport across blood-brain barrier NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in tryptophan transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in valine transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in basal plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in basolateral plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in microvillus membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    large neutral amino acids transporter small subunit 2
    Names
    L-type amino acid transporter 2
    integral membrane protein E16H
    solute carrier family 7 (amino acid transporter light chain, L system), member 8
    solute carrier family 7 (amino acid transporter, L-type), member 8
    solute carrier family 7 (cationic amino acid transporter, y+ system), member 8

    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.

    mRNA and Protein(s)

    1. NM_001267036.1NP_001253965.1  large neutral amino acids transporter small subunit 2 isoform c

      See identical proteins and their annotated locations for NP_001253965.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AB037669, AF135830, AK296702, AL117258, BX248288
      Consensus CDS
      CCDS58305.1
      UniProtKB/Swiss-Prot
      Q9UHI5
      Related
      ENSP00000434345.2, ENST00000529705.6
      Conserved Domains (1) summary
      TIGR00911
      Location:65392
      2A0308; L-type amino acid transporter
    2. NM_001267037.2NP_001253966.1  large neutral amino acids transporter small subunit 2 isoform d

      See identical proteins and their annotated locations for NP_001253966.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon and lacks an exon in the coding region, compared to variant 1. The encoded isoform (d) is shorter and has a distinct N-terminus, compared to isoform a.
      Source sequence(s)
      AB037669, AF135830, AK300384, BX248288
      Consensus CDS
      CCDS58304.1
      UniProtKB/Swiss-Prot
      Q9UHI5
      Related
      ENSP00000416398.2, ENST00000422941.6
      Conserved Domains (1) summary
      cl26159
      Location:39273
      AA_permease_2; Amino acid permease
    3. NM_012244.4NP_036376.2  large neutral amino acids transporter small subunit 2 isoform a

      See identical proteins and their annotated locations for NP_036376.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AB037669, AF135830, AK223610, AK313465, AL365343, BX248288
      Consensus CDS
      CCDS9590.1
      UniProtKB/Swiss-Prot
      B2R8Q4, B4DKT4, B4DTV6, D3DS46, F2Z2J4, Q86U05, Q9UHI5, Q9UKQ6, Q9UKQ7, Q9UKQ8, Q9Y445
      UniProtKB/TrEMBL
      Q53EM9
      Related
      ENSP00000320378.7, ENST00000316902.12
      Conserved Domains (1) summary
      TIGR00911
      Location:1497
      2A0308; L-type amino acid transporter
    4. NM_182728.3NP_877392.1  large neutral amino acids transporter small subunit 2 isoform b

      See identical proteins and their annotated locations for NP_877392.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
      Source sequence(s)
      AB037669, AF135830, BX248288
      Consensus CDS
      CCDS41924.1
      UniProtKB/TrEMBL
      Q7Z4Z5
      Related
      ENSP00000391577.1, ENST00000453702.5
      Conserved Domains (1) summary
      TIGR00911
      Location:1294
      2A0308; L-type amino acid transporter

    RNA

    1. NR_049767.2 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) uses an alternate 5'-most exon and lacks two consecutive internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 3, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB037669, AF135830, AL117258, BC036825, BX248288
      Related
      ENST00000339733.9

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

      Range
      23125295..23183660 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060938.1 Alternate T2T-CHM13v2.0

      Range
      17325945..17384328 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)