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    SLC6A18 solute carrier family 6 member 18 [ Homo sapiens (human) ]

    Gene ID: 348932, updated on 2-Nov-2024

    Summary

    Official Symbol
    SLC6A18provided by HGNC
    Official Full Name
    solute carrier family 6 member 18provided by HGNC
    Primary source
    HGNC:HGNC:26441
    See related
    Ensembl:ENSG00000164363 MIM:610300; AllianceGenome:HGNC:26441
    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
    Xtrp2
    Summary
    The SLC6 family of proteins, which includes SLC6A18, act as specific transporters for neurotransmitters, amino acids, and osmolytes like betaine, taurine, and creatine. SLC6 proteins are sodium cotransporters that derive the energy for solute transport from the electrochemical gradient for sodium ions (Hoglund et al., 2005 [PubMed 16125675]).[supplied by OMIM, Apr 2010]
    Expression
    Restricted expression toward kidney (RPKM 7.1) See more
    Orthologs
    NEW
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    Genomic context

    See SLC6A18 in Genome Data Viewer
    Location:
    5p15.33
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (1225381..1246189)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (1132355..1153096)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (1225496..1246304)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900189 Neighboring gene TERT regulating lncRNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1187033-1187726 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1187727-1188419 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1195313-1196120 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1196121-1196928 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1204178-1204741 Neighboring gene solute carrier family 6 member 19 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1225890-1226432 Neighboring gene MNS16A minisatellite promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:1264322-1264939 Neighboring gene telomerase reverse transcriptase Neighboring gene Sharpr-MPRA regulatory region 13256 Neighboring gene TERT enhancer in intron 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1290609-1291360 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:1291361-1292111 Neighboring gene TERT 5' regulatory region Neighboring gene microRNA 4457

    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

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2021-02-02)

    ClinGen Genome Curation Page
    Haploinsufficency

    Dosage sensitivity unlikely (Last evaluated 2021-02-02)

    ClinGen Genome Curation PagePubMed

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer.
    EBI GWAS Catalog

    Pathways from PubChem

    General gene information

    Clone Names

    • FLJ31236

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in amino acid transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    NOT involved_in amino acid transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in amino acid transport TAS
    Traceable Author Statement
    more info
     
    involved_in neurotransmitter transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in neutral amino acid transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in renal amino acid absorption ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in brush border membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    inactive sodium-dependent neutral amino acid transporter B(0)AT3
    Names
    sodium channel-like protein
    sodium- and chloride-dependent transporter XTRP2
    sodium-dependent neutral amino acid transporter B(0)AT3
    solute carrier family 6 (neurotransmitter transporter), member 18
    solute carrier family 6 (neutral amino acid transporter), member 18
    system B(0) neutral amino acid transporter AT3

    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_182632.3NP_872438.2  inactive sodium-dependent neutral amino acid transporter B(0)AT3

      See identical proteins and their annotated locations for NP_872438.2

      Status: VALIDATED

      Source sequence(s)
      AK055798, BC056757
      Consensus CDS
      CCDS3860.1
      UniProtKB/Swiss-Prot
      Q96N87
      Related
      ENSP00000323549.3, ENST00000324642.4
      Conserved Domains (1) summary
      cd11517
      Location:17591
      SLC6sbd_B0AT3; glycine transporter, B0AT3; solute-binding domain

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      1225381..1246189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      1132355..1153096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)