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

Gene ID: 5002, updated on 3-Jan-2021

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
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
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Genomic context

See SLC22A18 in Genome Data Viewer
Location:
11p15.4
Exon count:
14
Annotation release Status Assembly Chr Location
109.20201120 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (2899691..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 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

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?

Phenotypes

Associated conditions

Description Tests
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
GeneReviews: Not available
Familial cancer of breast Compare labs
Genome-wide association meta-analysis for total serum bilirubin levels.
GeneReviews: Not available
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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp667A184

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
symporter activity IEA
Inferred from Electronic Annotation
more info
 
transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
excretion NAS
Non-traceable Author Statement
more info
PubMed 
organic cation transport NAS
Non-traceable Author Statement
more info
PubMed 
xenobiotic detoxification by transmembrane export across the plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
xenobiotic transport IDA
Inferred from Direct Assay
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 HDA PubMed 
nuclear envelope IDA
Inferred from Direct Assay
more info
PubMed 
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-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)

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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)

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/Swiss-Prot
    Q96BI1
    UniProtKB/TrEMBL
    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
    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
    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: 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
    2899691..2925246
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011520141.2XP_011518443.2  solute carrier family 22 member 18 isoform X1

  2. XM_011520142.2XP_011518444.2  solute carrier family 22 member 18 isoform X2

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NT_187585.1 Reference GRCh38.p13 ALT_REF_LOCI_1

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