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

    Gene ID: 5002, updated on 28-Oct-2024

    Summary

    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 MIM:602631; AllianceGenome:HGNC:10964
    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]
    Expression
    Broad expression in duodenum (RPKM 18.6), small intestine (RPKM 17.1) and 21 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SLC22A18 in Genome Data Viewer
    Location:
    11p15.4
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (2899691..2925246)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (2988937..3014343)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (2920921..2946476)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene KCNQ1 downstream neighbor Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2904223-2904722 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2905995-2906830 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2906831-2907666 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2907667-2908502 Neighboring gene SLC22A18 antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2913065-2913864 Neighboring gene cyclin dependent kinase inhibitor 1C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3074 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2924695-2925196 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2933345-2934048 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2935457-2936158 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2949927-2950535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2950536-2951145 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2951146-2951754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2954769-2955381 Neighboring gene pleckstrin homology like domain family A member 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:2961339-2961515 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2967017-2967632 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:2967633-2968246 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2968247-2968862 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:2968863-2969476 Neighboring gene nucleosome assembly protein 1 like 4 Neighboring gene NANOG hESC enhancer GRCh37_chr11:2982073-2982579 Neighboring gene small nucleolar RNA, H/ACA box 54

    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

    Associated conditions

    Description Tests
    Familial cancer of breast Compare labs
    Lung cancer
    MedGen: C0242379 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

    EBI GWAS Catalog

    Description
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    EBI GWAS Catalog
    Genome-wide association meta-analysis for total serum bilirubin levels.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp667A184

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables symporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables xenobiotic transmembrane transporter activity TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    located_in apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane HDA PubMed 
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     

    General protein information

    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-like gene 1
    imprinted multi-membrane-spanning polyspecific transporter-related protein 1
    organic cation transporter-like protein 2
    p45 Beckwith-Wiedemann region 1A
    tumor-suppressing STF cDNA 5 protein
    tumor-suppressing subchromosomal transferable fragment candidate gene 5 protein

    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.

    Genomic

    1. NG_011512.1 RefSeqGene

      Range
      7558..30526
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1054

    mRNA and Protein(s)

    1. NM_001315501.2NP_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_001315502.2NP_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, AC013791, AL521035, BC015571, DA582280
      Consensus CDS
      CCDS81542.1
      UniProtKB/TrEMBL
      A0A0J9YWM3, E9PRM7
      Related
      ENSP00000392072.2, ENST00000449793.6
      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_002555.6NP_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
      O14906, O43562, O60485, O60680, Q7LDS5, Q7LGF7, Q96BI1
      Related
      ENSP00000497561.1, ENST00000649076.2
      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_183233.3NP_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, AC013791, BC015571, BM561526
      Consensus CDS
      CCDS7740.1
      UniProtKB/Swiss-Prot
      O14906, O43562, O60485, O60680, Q7LDS5, Q7LGF7, Q96BI1
      Related
      ENSP00000307859.2, ENST00000347936.6
      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: 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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      2899691..2925246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047427033.1XP_047282989.1  solute carrier family 22 member 18 isoform X1

      UniProtKB/Swiss-Prot
      O14906, O43562, O60485, O60680, Q7LDS5, Q7LGF7, Q96BI1
      Related
      ENSP00000369948.1, ENST00000380574.5
    2. XM_011520141.3XP_011518443.2  solute carrier family 22 member 18 isoform X2

    3. XM_011520142.3XP_011518444.2  solute carrier family 22 member 18 isoform X3

    4. XM_047427034.1XP_047282990.1  solute carrier family 22 member 18 isoform X4

    5. XM_047427035.1XP_047282991.1  solute carrier family 22 member 18 isoform X5

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NT_187585.1 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      131902..157362
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054328870.1XP_054184845.1  solute carrier family 22 member 18 isoform X1

      UniProtKB/TrEMBL
      A0A024RCG2
    2. XM_054328865.1XP_054184840.1  solute carrier family 22 member 18 isoform X1

      UniProtKB/TrEMBL
      A0A024RCG2
    3. XM_054328866.1XP_054184841.1  solute carrier family 22 member 18 isoform X6

    4. XM_054328868.1XP_054184843.1  solute carrier family 22 member 18 isoform X7

    5. XM_054328869.1XP_054184844.1  solute carrier family 22 member 18 isoform X8

    6. XM_054328867.1XP_054184842.1  solute carrier family 22 member 18 isoform X4

    7. XM_054328871.1XP_054184846.1  solute carrier family 22 member 18 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      2988937..3014343
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368978.1XP_054224953.1  solute carrier family 22 member 18 isoform X1

    2. XM_054368977.1XP_054224952.1  solute carrier family 22 member 18 isoform X10

    3. XM_054368979.1XP_054224954.1  solute carrier family 22 member 18 isoform X2

    4. XM_054368980.1XP_054224955.1  solute carrier family 22 member 18 isoform X3

    5. XM_054368976.1XP_054224951.1  solute carrier family 22 member 18 isoform X9

    6. XM_054368981.1XP_054224956.1  solute carrier family 22 member 18 isoform X4

    7. XM_054368983.1XP_054224958.1  solute carrier family 22 member 18 isoform X5

    8. XM_054368982.1XP_054224957.1  solute carrier family 22 member 18 isoform X4