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Aliases for SLC22A18 Gene

Aliases for SLC22A18 Gene

  • Solute Carrier Family 22, Member 18 2 3
  • Tumor-Suppressing Subchromosomal Transferable Fragment Candidate Gene 5 Protein 3 4
  • Imprinted Multi-Membrane-Spanning Polyspecific Transporter-Related Protein 1 3 4
  • Beckwith-Wiedemann Syndrome Chromosomal Region 1 Candidate Gene A Protein 3 4
  • Organic Cation Transporter-Like Protein 2 3 4
  • Tumor-Suppressing STF CDNA 5 Protein 3 4
  • P45-Beckwith-Wiedemann Region 1 A 3 4
  • Efflux Transporter-Like Protein 3 4
  • P45-BWR1A 3 4
  • SLC22A1L 3 4
  • BWSCR1A 3 4
  • ORCTL-2 3 4
  • ORCTL2 3 4
  • IMPT1 3 4
  • BWR1A 3 4
  • TSSC5 3 4
  • HET 3 4
  • ITM 3 4
  • Imprinted Multi-Membrane Spanning Polyspecific Transporter-Related Protein 1 3
  • Solute Carrier Family 22 (Organic Cation Transporter), Member 1-Like 2
  • Beckwith-Wiedemann Syndrome Chromosome Region 1, Candidate A 3
  • Solute Carrier Family 22 Member 1-Like 4
  • Solute Carrier Family 22 Member 18 3
  • Organic-Cation Transporter-Like 2) 6
  • Organic Cation Transporter-Like 2 3
  • P45 Beckwith-Wiedemann Region 1A 3

External Ids for SLC22A18 Gene

Previous HGNC Symbols for SLC22A18 Gene

  • ORCTL2
  • BWSCR1A
  • IMPT1
  • SLC22A1L

Previous GeneCards Identifiers for SLC22A18 Gene

  • GC11P002885
  • GC11P002877
  • GC11P002709

Summaries for SLC22A18 Gene

Entrez Gene Summary for SLC22A18 Gene

  • 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. Two alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Oct 2010]

GeneCards Summary for SLC22A18 Gene

SLC22A18 (Solute Carrier Family 22, Member 18) is a Protein Coding gene. Diseases associated with SLC22A18 include lung cancer and beckwith-wiedemann syndrome. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include ubiquitin protein ligase binding and drug transmembrane transporter activity. An important paralog of this gene is MFSD9.

UniProtKB/Swiss-Prot for SLC22A18 Gene

  • May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney.

Gene Wiki entry for SLC22A18 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC22A18 Gene

Genomics for SLC22A18 Gene

Regulatory Elements for SLC22A18 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SLC22A18 Gene

Start:
2,899,721 bp from pter
End:
2,925,246 bp from pter
Size:
25,526 bases
Orientation:
Plus strand

Genomic View for SLC22A18 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC22A18 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC22A18 Gene

Proteins for SLC22A18 Gene

  • Protein details for SLC22A18 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96BI1-S22AI_HUMAN
    Recommended name:
    Solute carrier family 22 member 18
    Protein Accession:
    Q96BI1
    Secondary Accessions:
    • O14906
    • O43562
    • O60485
    • O60680
    • Q7LDS5
    • Q7LGF7

    Protein attributes for SLC22A18 Gene

    Size:
    424 amino acids
    Molecular mass:
    44846 Da
    Quaternary structure:
    • Interacts with RNF167.
    SequenceCaution:
    • Sequence=AAB82727.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA32779.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for SLC22A18 Gene

Proteomics data for SLC22A18 Gene at MOPED

Post-translational modifications for SLC22A18 Gene

  • Ubiquitination at Lys229
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC22A18 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Santa Cruz Biotechnology (SCBT) Antibodies for SLC22A18

No data available for DME Specific Peptides for SLC22A18 Gene

Domains for SLC22A18 Gene

Gene Families for SLC22A18 Gene

Protein Domains for SLC22A18 Gene

Suggested Antigen Peptide Sequences for SLC22A18 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96BI1

UniProtKB/Swiss-Prot:

S22AI_HUMAN :
  • Q96BI1
Family:
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
genes like me logo Genes that share domains with SLC22A18: view

Function for SLC22A18 Gene

Molecular function for SLC22A18 Gene

UniProtKB/Swiss-Prot Function:
May act as a transporter of organic cations based on a proton efflux antiport mechanism. May play a role in the transport of chloroquine and quinidine-related compounds in kidney.

Gene Ontology (GO) - Molecular Function for SLC22A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005215 transporter activity --
GO:0015238 drug transmembrane transporter activity IDA 9744804
GO:0015293 symporter activity IEA --
GO:0031625 ubiquitin protein ligase binding IPI 16314844
genes like me logo Genes that share ontologies with SLC22A18: view

Phenotypes for SLC22A18 Gene

GenomeRNAi human phenotypes for SLC22A18:
genes like me logo Genes that share phenotypes with SLC22A18: view

Animal Model Products

CRISPR Products

miRNA for SLC22A18 Gene

miRTarBase miRNAs that target SLC22A18

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC22A18

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC22A18 Gene

Localization for SLC22A18 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC22A18 Gene

Apical cell membrane; Multi-pass membrane protein. Note=Localized at the apical membrane surface of renal proximal tubules. {ECO:0000269 PubMed:9744804}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC22A18 Gene COMPARTMENTS Subcellular localization image for SLC22A18 gene
Compartment Confidence
nucleus 5
plasma membrane 5
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for SLC22A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IDA 16314844
GO:0005737 cytoplasm IDA 16314844
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane NAS 9499412
genes like me logo Genes that share ontologies with SLC22A18: view

Pathways for SLC22A18 Gene

genes like me logo Genes that share pathways with SLC22A18: view

Interacting Proteins for SLC22A18 Gene

Gene Ontology (GO) - Biological Process for SLC22A18 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006855 drug transmembrane transport IDA 9744804
GO:0007588 excretion NAS 9744804
GO:0015695 organic cation transport NAS 9744804
GO:0015893 drug transport IDA 9744804
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with SLC22A18: view

Transcripts for SLC22A18 Gene

Unigene Clusters for SLC22A18 Gene

Solute carrier family 22, member 18:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SLC22A18

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SLC22A18 Gene

ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: - - - -
SP2: - - -
SP3: -
SP4: - - -
SP5: -
SP6:
SP7:
SP8:

Relevant External Links for SLC22A18 Gene

GeneLoc Exon Structure for
SLC22A18
ECgene alternative splicing isoforms for
SLC22A18

Expression for SLC22A18 Gene

mRNA expression in normal human tissues for SLC22A18 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC22A18 Gene

This gene is overexpressed in Liver (7.8), Colon - Transverse (5.3), and Kidney - Cortex (4.2).

Protein differential expression in normal tissues for SLC22A18 Gene

This gene is overexpressed in Nasal epithelium (60.2).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC22A18 Gene

SOURCE GeneReport for Unigene cluster for SLC22A18 Gene Hs.50868

mRNA Expression by UniProt/SwissProt for SLC22A18 Gene

Q96BI1-S22AI_HUMAN
Tissue specificity: Expressed at high levels in adult and fetal kidney and liver, and adult colon. Expressed in fetal renal proximal tubules (at protein level). Expressed at lower levels in heart, brain and lung.
genes like me logo Genes that share expressions with SLC22A18: view

Expression partners for SLC22A18 Gene

In Situ Assay Products

Orthologs for SLC22A18 Gene

This gene was present in the common ancestor of animals.

Orthologs for SLC22A18 Gene

Organism Taxonomy Gene Similarity Type Details
dog
(Canis familiaris)
Mammalia SLC22A18 35
  • 77.38 (n)
  • 71.15 (a)
SLC22A18 36
  • 63 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc22a18 35
  • 78.51 (n)
  • 79.17 (a)
Slc22a18 16
Slc22a18 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SLC22A18 35
  • 96.57 (n)
  • 95.22 (a)
SLC22A18 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc22a18 35
  • 77.78 (n)
  • 77.62 (a)
cow
(Bos Taurus)
Mammalia SLC22A18 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SLC22A18 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC22A18 36
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves SLC22A18 35
  • 59.54 (n)
  • 55.04 (a)
SLC22A18 36
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SLC22A18 36
  • 50 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii slc22a18 35
  • 56.88 (n)
  • 54.29 (a)
slc22a18 36
  • 52 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11050 35
worm
(Caenorhabditis elegans)
Secernentea C53B4.3 35
  • 39.24 (n)
  • 29.7 (a)
C53B4.3 36
  • 25 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToOne
Species with no ortholog for SLC22A18:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for SLC22A18 Gene

ENSEMBL:
Gene Tree for SLC22A18 (if available)
TreeFam:
Gene Tree for SLC22A18 (if available)

Paralogs for SLC22A18 Gene

Paralogs for SLC22A18 Gene

Selected SIMAP similar genes for SLC22A18 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with SLC22A18: view

Variants for SLC22A18 Gene

Sequence variations from dbSNP and Humsavar for SLC22A18 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs367480 -- 2,916,401(-) ACCCT(C/T)GCCAC intron-variant
rs369144 -- 2,923,084(-) CTCTT(A/C)GGCCT intron-variant
rs369638 -- 2,917,730(-) AGCAT(C/T)CTCTG intron-variant
rs371237 -- 2,907,594(+) ctgga(A/G)gttaa intron-variant
rs371907 -- 2,907,793(+) CTGAA(A/G)GGCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SLC22A18 Gene

Variant ID Type Subtype PubMed ID
dgv333e1 CNV Complex 17122850
dgv1006n71 CNV Loss 21882294
nsv469930 CNV Loss 18288195
dgv1009n71 CNV Loss 21882294
nsv832050 CNV Loss 17160897
nsv467657 CNV Loss 19166990
dgv1010n71 CNV Loss 21882294
dgv1011n71 CNV Loss 21882294
dgv1012n71 CNV Loss 21882294
dgv1013n71 CNV Loss 21882294
nsv467658 CNV Loss 19166990
nsv896874 CNV Loss 21882294
esv2744016 CNV Deletion 23290073
esv2744017 CNV Deletion 23290073
esv2744018 CNV Deletion 23290073
esv2744020 CNV Deletion 23290073
esv998342 CNV Deletion 20482838
dgv152e201 CNV Deletion 23290073
dgv153e201 CNV Deletion 23290073

Relevant External Links for SLC22A18 Gene

HapMap Linkage Disequilibrium report
SLC22A18

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SLC22A18 Gene

Disorders for SLC22A18 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for SLC22A18 Gene in MalaCards »

(5) Diseases for SLC22A18 Gene including...

(3) OMIM Diseases for SLC22A18 Gene (602631)

UniProtKB/Swiss-Prot

S22AI_HUMAN
  • Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. {ECO:0000269 PubMed:9751628}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Rhabdomyosarcoma, embryonal, 1 (RMSE1) [MIM:268210]: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas. Note=The disease may be caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SLC22A18 Gene

(6) Novoseek inferred disease relationships for SLC22A18 Gene

Disease -log(P) Hits PubMed IDs
beckwith-wiedemann syndrome 83.1 1
hepatoblastoma 76.3 1
wilms tumor 72.1 3
rhabdomyosarcoma 67.4 1
tumors 7.48 9

Relevant External Links for SLC22A18

Genetic Association Database (GAD)
SLC22A18
Human Genome Epidemiology (HuGE) Navigator
SLC22A18
genes like me logo Genes that share disorders with SLC22A18: view

No data available for Genatlas for SLC22A18 Gene

Publications for SLC22A18 Gene

  1. IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes. (PMID: 9499412) Dao D. … Tycko B. (Hum. Mol. Genet. 1998) 2 3 4 23
  2. Transcriptional map of 170-kb region at chromosome 11p15.5: identification and mutational analysis of the BWR1A gene reveals the presence of mutations in tumor samples. (PMID: 9520460) Schwienbacher C. … Negrini M. (Proc. Natl. Acad. Sci. U.S.A. 1998) 2 3 4 23
  3. Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain. (PMID: 9570947) Cooper P.R. … Higgins M.J. (Genomics 1998) 3 4 23
  4. Functional characterization of ORCTL2 -- an organic cation transporter expressed in the renal proximal tubules. (PMID: 9744804) Reece M. … Pelletier J. (FEBS Lett. 1998) 3 4 23
  5. Somatic mutation of TSSC5, a novel imprinted gene from human chromosome 11p15.5. (PMID: 9751628) Lee M.P. … Feinberg A.P. (Cancer Res. 1998) 3 4 23

Products for SLC22A18 Gene

Sources for SLC22A18 Gene

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