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    SLC22A18 solute carrier family 22 member 18 [ Homo sapiens (human) ]

    Gene ID: 5002, updated on 8-Aug-2016
    Official Symbol
    SLC22A18provided by HGNC
    Official Full Name
    solute carrier family 22 member 18provided by HGNC
    Primary source
    HGNC:HGNC:10964
    See related
    Ensembl:ENSG00000110628 HPRD:04024; MIM:602631; Vega:OTTHUMG00000010037
    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
    HET; ITM; BWR1A; IMPT1; TSSC5; ORCTL2; BWSCR1A; SLC22A1L; p45-BWR1A
    Summary
    This gene is one of several tumor-suppressing subtransferable fragments located in the imprinted gene domain of 11p15.5, an important tumor-suppressor gene region. Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. This gene is imprinted, with preferential expression from the maternal allele. Mutations in this gene have been found in Wilms' tumor and lung cancer. This protein may act as a transporter of organic cations, and have a role in the transport of chloroquine and quinidine-related compounds in kidney. Several alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Oct 2015]
    Orthologs
    Location:
    11p15.5
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (2899721..2925246)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2920951..2946476)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene KCNQ1 downstream neighbor (non-protein coding) Neighboring gene solute carrier family 22 member 18 antisense Neighboring gene cyclin dependent kinase inhibitor 1C Neighboring gene pleckstrin homology like domain family A member 2 Neighboring gene nucleosome assembly protein 1 like 4 Neighboring gene small nucleolar RNA, H/ACA box 54

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Familial cancer of breast Compare labs
    Lung cancer
    MedGen: C0684249 OMIM: 211980 GeneReviews: Not available
    Compare labs
    Rhabdomyosarcoma 1
    MedGen: C1849385 OMIM: 268210 GeneReviews: Not available
    not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-22)

    ClinGen Genome Curation Page

    NHGRI GWAS Catalog

    Description
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    NHGRI GWA Catalog
    Genome-wide association meta-analysis for total serum bilirubin levels.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp667A184

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    drug transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    drug:proton antiporter activity TAS
    Traceable Author Statement
    more info
     
    symporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    drug export IEA
    Inferred from Electronic Annotation
    more info
     
    drug transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    drug transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    excretion NAS
    Non-traceable Author Statement
    more info
    PubMed 
    organic cation transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    solute carrier family 22 member 18
    Names
    beckwith-Wiedemann syndrome chromosomal region 1 candidate gene A protein
    efflux transporter-like protein
    imprinted multi-membrane-spanning polyspecific transporter-related protein 1
    organic cation transporter-like protein 2
    p45 Beckwith-Wiedemann region 1A
    solute carrier family 22, member 18
    tumor-suppressing STF cDNA 5 protein
    tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein

    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_011512.1 RefSeqGene

      Range
      5001..30526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001315501.1NP_001302430.1  solute carrier family 22 member 18 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC013791, AF059663, BC015571, BM561526
      UniProtKB/Swiss-Prot
      Q96BI1
      Conserved Domains (2) summary
      cd06174
      Location:111500
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:111466
      MFS_1; Major Facilitator Superfamily
    2. NM_001315502.1NP_001302431.1  solute carrier family 22 member 18 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR and coding sequence and lacks an alternate in-frame segment compared to variant 3. The resulting isoform (c) is shorter at the N-terminus and lacks an alternate internal segment compared to isoform a.
      Source sequence(s)
      AB012083, AL521035, BC015571, DA582280
      UniProtKB/Swiss-Prot
      Q96BI1
      UniProtKB/TrEMBL
      E9PRM7
      Related
      ENSP00000392072, OTTHUMP00000012598, ENST00000449793, OTTHUMT00000030105
      Conserved Domains (1) summary
      cd06174
      Location:132317
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
    3. NM_002555.5NP_002546.3  solute carrier family 22 member 18 isoform b

      See identical proteins and their annotated locations for NP_002546.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1 and 2 both encode the same isoform (b).
      Source sequence(s)
      AC013791, AF059663, AW452749, DA582280
      Consensus CDS
      CCDS7740.1
      UniProtKB/Swiss-Prot
      Q96BI1
      Related
      ENSP00000311139, OTTHUMP00000011732, ENST00000312221, OTTHUMT00000027769
      Conserved Domains (2) summary
      cd06174
      Location:26415
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:26381
      MFS_1; Major Facilitator Superfamily
    4. NM_183233.2NP_899056.2  solute carrier family 22 member 18 isoform b

      See identical proteins and their annotated locations for NP_899056.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 3. The resulting isoform (b) is shorter at the N-terminus compared to isoform a. Variants 1 and 2 both encode the same isoform (b).
      Source sequence(s)
      AB012083, BC015571, BM561526
      Consensus CDS
      CCDS7740.1
      UniProtKB/Swiss-Prot
      Q96BI1
      Related
      ENSP00000307859, OTTHUMP00000011731, ENST00000347936, OTTHUMT00000027768
      Conserved Domains (2) summary
      cd06174
      Location:26415
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      pfam07690
      Location:26381
      MFS_1; Major Facilitator Superfamily

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      2899721..2925246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011520141.2XP_011518443.2  

    2. XM_011520142.2XP_011518444.2  

    Reference GRCh38.p7 ALT_REF_LOCI_1

    Genomic

    1. NT_187585.1 Reference GRCh38.p7 ALT_REF_LOCI_1

      Range
      131932..157362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      2919878..2945340
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)