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

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The effect of genetic variants of SLC22A18 on proliferation, migration, and invasion of colon cancer cells.
Title: The effect of genetic variants of SLC22A18 on proliferation, migration, and invasion of colon cancer cells.
These results suggest that SLC22A18 may act as a tumor suppressor by regulating the expression levels of cell growth-related proteins, and vinca alkaloids might show therapeutic efficacy against low-SLC22A18-expressing breast cancer.
Title: Involvement of an Orphan Transporter, SLC22A18, in Cell Growth and Drug Resistance of Human Breast Cancer MCF7 Cells.
suppression of SLC22A18 decreased the supply of intracellular free fatty acids from triglyceride-rich lipid droplets by impairing the lysosomal/autophagy degradation pathway and reduced the invasive activity of HepG2 cells by decreasing IGFBP-1 expression
Title: Knockdown of Orphan Transporter SLC22A18 Impairs Lipid Metabolism and Increases Invasiveness of HepG2 Cells.
Data provide evidence that SLC22A18 and/or CDKN1C are tumor modifier genes involved in the tumorigenesis of SDHD-mutated paraganglioma.
Title: Parent-of-origin tumourigenesis is mediated by an essential imprinted modifier in SDHD-linked paragangliomas: SLC22A18 and CDKN1C are candidate tumour modifiers.
Establish SLC22A18 as a tumor suppressor in colon epithelial cells and propose that SLC22A18 is potentially a marker of diagnostic and prognostic values.
Title: Characterization of SLC22A18 as a tumor suppressor and novel biomarker in colorectal cancer.
microRNA-137 functions as a tumor suppressor in human non-small cell lung cancer by targeting SLC22A18
Title: microRNA-137 functions as a tumor suppressor in human non-small cell lung cancer by targeting SLC22A18.
Upregulated expression of SLC22A18 enhanced the radiosensitivity of glioma U251 cells.
Title: In vitro and in vivo radiosensitization of human glioma U251 cells induced by upregulated expression of SLC22A18.
SLC22A18 protein expression predicted a significantly shorter overall survival in 51 patients receiving TMZ therapy, whereas no differences in overall survival were observed in 35 patients without TMZ therapy
Title: Predictive value of the SLC22A18 protein expression in glioblastoma patients receiving temozolomide therapy.
SLC22A18 functions as a tumor suppressor in glioma and represents a candidate biomarker for long-term survival in this disease.
Title: Correlation of low SLC22A18 expression with poor prognosis in patients with glioma.
The expression level of SLC22A18 in non-small cell lung cancer was significantly higher than that in normal tissue.
Title: [Expression and its clinical significance of SLC22A18 in non-small cell lung cancer].

Submit: New GeneRIF Correction See all GeneRIFs (19)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Familial cancer of breast MedGen: C0346153 OMIM: 114480 GeneReviews: BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer	not available
Lung cancer MedGen: C0242379 OMIM: 211980 GeneReviews: Not available	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

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

L18426 (e-PCR)
- UniSTS:34648

PMC124986P2 (e-PCR)
- UniSTS:270478

RH103434 (e-PCR)
- UniSTS:97759

RH103436 (e-PCR)
- UniSTS:97761

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

Process	Evidence Code	Pubs
involved_in monoatomic ion transport	IEA Inferred from Electronic Annotation more info
involved_in organic cation transport	NAS Non-traceable Author Statement more info	PubMed
involved_in xenobiotic detoxification by transmembrane export across the plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in xenobiotic detoxification by transmembrane export across the plasma membrane	IDA Inferred from Direct Assay more info	PubMed
involved_in xenobiotic transport	IDA Inferred from Direct Assay more info	PubMed

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 more info	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

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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)

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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

NG_011512.1 RefSeqGene

Range

7558..30526

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_1054

mRNA and Protein(s)

NM_001315501.2 → NP_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:111 → 500

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:111 → 466

MFS_1; Major Facilitator Superfamily
NM_001315502.2 → NP_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:132 → 317

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 ...
NM_002555.6 → NP_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:26 → 415

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:26 → 381

MFS_1; Major Facilitator Superfamily
NM_183233.3 → NP_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:26 → 415

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:26 → 381

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

2899691..2925246

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427033.1 → XP_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
XM_011520141.3 → XP_011518443.2 solute carrier family 22 member 18 isoform X2
XM_011520142.3 → XP_011518444.2 solute carrier family 22 member 18 isoform X3
XM_047427034.1 → XP_047282990.1 solute carrier family 22 member 18 isoform X4
XM_047427035.1 → XP_047282991.1 solute carrier family 22 member 18 isoform X5

Reference GRCh38.p14 ALT_REF_LOCI_1

Genomic

NT_187585.1 Reference GRCh38.p14 ALT_REF_LOCI_1

Range

131902..157362

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A0A024RCG2
XM_054328865.1 → XP_054184840.1 solute carrier family 22 member 18 isoform X1

UniProtKB/TrEMBL

A0A024RCG2
XM_054328866.1 → XP_054184841.1 solute carrier family 22 member 18 isoform X6
XM_054328868.1 → XP_054184843.1 solute carrier family 22 member 18 isoform X7
XM_054328869.1 → XP_054184844.1 solute carrier family 22 member 18 isoform X8
XM_054328867.1 → XP_054184842.1 solute carrier family 22 member 18 isoform X4
XM_054328871.1 → XP_054184846.1 solute carrier family 22 member 18 isoform X5