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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SLC22A18 Gene

protein-coding   GIFtS: 59
GCID: GC11P002877

Solute Carrier Family 22, Member 18

(Previous names: solute carrier family 22 (organic cation transporter), member...)
(Previous symbols: ORCTL2, BWSCR1A, IMPT1, SLC22A1L)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Solute Carrier Family 22, Member 181 2     ITM2 3
BWSCR1A1 2 3 5     ORCTL-22 3
IMPT11 2 3 5     TSSC52 3
SLC22A1L1 2 3 5     p45-BWR1A2 3
ORCTL21 2 3     P45-Beckwith-Wiedemann Region 1 A2 3
Beckwith-Wiedemann Syndrome Chromosomal Region 1 Candidate Gene A Protein2 3     Solute Carrier Family 22 (Organic Cation Transporter), Member 1-Like1
Efflux Transporter-Like Protein2 3     Beckwith-Wiedemann Syndrome Chromosome Region 1, Candidate A2
Imprinted Multi-Membrane-Spanning Polyspecific Transporter-Related Protein
12 3
     Imprinted Multi-Membrane Spanning Polyspecific Transporter-Related Protein
12
Organic Cation Transporter-Like Protein 22 3     Organic Cation Transporter-Like 22
Tumor-Suppressing STF CDNA 5 Protein2 3     P45 Beckwith-Wiedemann Region 1A2
Tumor-Suppressing Subchromosomal Transferable Fragment Candidate Gene 5
Protein2 3
     Solute Carrier Family 22 Member 182
BWR1A2 3     Solute Carrier Family 22 Member 1-Like3
HET2 3     

External Ids:    HGNC: 109641   Entrez Gene: 50022   Ensembl: ENSG000001106287   OMIM: 6026315   UniProtKB: Q96BI13   

Export aliases for SLC22A18 gene to outside databases

Previous GC identifers: GC11P002885 GC11P002709


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 botryoid rhabdomyosarcoma, and among its related super-pathways are Transmembrane transport of small molecules and Organic cation/anion/zwitterion transport. GO annotations related to this gene include drug transmembrane transporter activity and ubiquitin protein ligase binding. An important paralog of this gene is MFSD9.

UniProtKB/Swiss-Prot: S22AI_HUMAN, Q96BI1
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 Wiki entry for SLC22A18 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_009237.18  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC22A18 gene promoter:
         NF-1   SRY   Pax-5   NCX/Ncx   POU6F1 (c2)   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): SLC22A18 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC22A18

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC22A18


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11p15.5   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.5

SLC22A18 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC22A18 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P002877:  view genomic region     (about GC identifiers)

Start:
2,920,951 bp from pter      End:
2,946,476 bp from pter
Size:
25,526 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: S22AI_HUMAN, Q96BI1 (See protein sequence)
Recommended Name: Solute carrier family 22 member 18  
Size: 424 amino acids; 44846 Da
Subunit: Interacts with RNF167
Subcellular location: Apical cell membrane; Multi-pass membrane protein (Potential). Note=Localized at the apical
membrane surface of renal proximal tubules
Caution: It is uncertain whether Met-1 or Met-17 is the initiator
Sequence caution: Sequence=AAB82727.1; Type=Erroneous initiation; Sequence=BAA32779.1; Type=Erroneous initiation;
Secondary accessions: O14906 O43562 O60485 O60680 Q7LDS5 Q7LGF7

Explore the universe of human proteins at neXtProt for SLC22A18: NX_Q96BI1

Explore proteomics data for SLC22A18 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96BI1

  • SLC22A18 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC22A18 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_002546.3  NP_899056.2  

    ENSEMBL proteins: 
     ENSP00000307859   ENSP00000311139   ENSP00000392072   ENSP00000369948   ENSP00000433019  
    Reactome Protein details: Q96BI1
    Human Recombinant Protein Products for SLC22A18: 
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    Cloud-Clone Corp. Proteins for SLC22A18 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope IDA16314844
    GO:0005737cytoplasm IDA16314844
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane NAS9499412
    GO:0016324apical plasma membrane IDA9744804

    SLC22A18 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Organic cation transporter-like 2 
    Orphan or poorly characterized SLC22 family members

    4 InterPro protein domains:
     IPR020846 MFS_dom
     IPR001958 Tet-R_TetA/multi-R_MdtG
     IPR011701 MFS
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q96BI1

    ProtoNet protein and cluster: Q96BI1

    UniProtKB/Swiss-Prot: S22AI_HUMAN, Q96BI1
    Similarity: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19)
    family


    SLC22A18 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S22AI_HUMAN, Q96BI1
    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): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005215transporter activity ----
    GO:0015238drug transmembrane transporter activity IDA9744804
    GO:0015293symporter activity IEA--
    GO:0031625ubiquitin protein ligase binding IPI16314844
         
    SLC22A18 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for SLC22A18:
     Decreased nuclei size in G2M  Increased gamma-H2AX phosphory 

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC22A18 
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SLC22A18 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SLC-mediated transmembrane transport
    SLC-mediated transmembrane transport0.50
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38
    Transmembrane transport of small molecules0.50
    2Organic cation/anion/zwitterion transport
    Organic cation/anion/zwitterion transport0.62
    Organic cation transport0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5        Reactome Pathways for SLC22A18
        SLC-mediated transmembrane transport
    Transmembrane transport of small molecules
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Organic cation/anion/zwitterion transport
    Organic cation transport



    SLC22A18 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SLC22A18

    STRING Interaction Network Preview (showing 5 interactants - click image to see more details)

    5 Interacting proteins for SLC22A18 (ENSP000003078594) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000236063ENSP000004069654STRING: ENSP00000406965
    USP45ENSP000003333764STRING: ENSP00000333376
    SAFB2ENSP000002525424STRING: ENSP00000252542
    RB1CC1ENSP000000250084STRING: ENSP00000025008
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006855drug transmembrane transport IDA9744804
    GO:0007588excretion NAS9744804
    GO:0015695organic cation transport NAS9744804
    GO:0015893drug transport IDA9744804
    GO:0055085transmembrane transport TAS--

    SLC22A18 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SLC22A18 (S22AI)

    Search CenterWatch for drugs/clinical trials and news about SLC22A18 / S22AI

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SLC22A18 gene (2 alternative transcripts): 
    NM_002555.5  NM_183233.2  

    Unigene Cluster for SLC22A18:

    Solute carrier family 22, member 18
    Hs.50868  [show with all ESTs]
    Unigene Representative Sequence: AF030302
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000347936(uc001lwx.3) ENST00000312221(uc001lwy.3) ENST00000449793
    ENST00000380574 ENST00000485423 ENST00000492567 ENST00000498244 ENST00000467719
    ENST00000463571 ENST00000498209 ENST00000441077 ENST00000449603 ENST00000495518

    miRNA
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    Additional mRNA sequence: 

    AB012083.1 AF028738.1 AF030302.1 AF037064.1 AF059663.1 AF070479.1 BC015571.2 

    13 DOTS entries:

    DT.113838  DT.110771  DT.91960671  DT.100775722  DT.100775724  DT.100024765  DT.100775723  DT.40130645 
    DT.86853205  DT.95079254  DT.95079257  DT.95079260  DT.99951568 

    24/118 AceView cDNA sequences (see all 118):

    BM893646 BU194065 BM966814 BE671759 CK823231 BM561526 AA535955 BM893589 
    CA454177 BM966890 AF059663 BM825077 AW009530 AI760091 CK823232 BI761173 
    BF062704 BM893547 BM893625 BQ447434 CR611681 BM966767 BE644947 BI193126 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for SLC22A18 (see all 8)    About this scheme

    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:                                                              -                                                               


    ECgene alternative splicing isoforms for SLC22A18

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SLC22A18 expression in normal human tissues (normalized intensities)      SLC22A18 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGGGCCTCT
    SLC22A18 Expression
    About this image


    SLC22A18 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
             brain/midbrain   
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Renal Collecting Duct System
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Telencephalon
     
     Colon (Gastrointestinal Tract)
     
     Liver (Hepatobiliary System)

    See SLC22A18 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC22A18

    SOURCE GeneReport for Unigene cluster: Hs.50868

    UniProtKB/Swiss-Prot: S22AI_HUMAN, Q96BI1
    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

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC22A18

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SLC22A18 gene from 5/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc22a181 , 5 solute carrier family 22 (organic cation transporter), more1, 5 78.51(n)1
    78.92(a)1
      7 (88.22 cM)5
    184001  NM_001042760.11  NP_001036225.11 
     1434737215 
    chicken
    (Gallus gallus)
    Aves SLC22A181 solute carrier family 22, member 18 59.54(n)
    55.04(a)
      423089  XM_421021.2  XP_421021.3 
    lizard
    (Anolis carolinensis)
    Reptilia SLC22A186
    Uncharacterized protein
    50(a)
    1 ↔ 1
    1(68784032-68867384)
    zebrafish
    (Danio rerio)
    Actinopterygii slc22a181 solute carrier family 22 (organic cation transporter), more 56.79(n)
    54.12(a)
      559752  NM_001037385.1  NP_001032462.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C53B4.31 Protein C53B4.3 38.03(n)
    28.73(a)
      177714  NM_069156.2  NP_501557.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC22A18 gene
    MFSD92  
    1 SIMAP similar gene for SLC22A18 using alignment to 3 protein entries:     S22AI_HUMAN (see all proteins):
    DKFZp667A184

    SLC22A18 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/823 SNPs in SLC22A18 are shown (see all 823)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0240614
    A rhabdomyosarcoma sample4--see VAR_0240612 R C mis40--------
    VAR_0240624
    Lung cancer (LNCR)4--see VAR_0240622 S F mis40--------
    rs1924296031,2
    --2707564(+) AGAATC/TATAGG 1 -- us2k10--------
    rs1380085281,2
    --2707572(+) AGGAGC/TAAGAG 1 -- us2k10--------
    rs1495155021,2
    --2707625(+) AATGGC/TGAAGG 1 -- us2k10--------
    rs110244521,2
    --2707656(+) TCCAGA/GTCACC 1 -- us2k1 tfbs30--------
    rs110244531,2
    --2707666(+) CCTTCA/TGTCCT 1 -- us2k10--------
    rs22832321,2
    C,F,A,H--2707691(+) AGTAAC/TGGTGA 1 -- us2k111Minor allele frequency- T:0.37EA NS NA CSA WA 1985
    rs79400311,2
    C,A--2707694(+) AATGGC/TGAAGG 1 -- us2k10--------
    rs1395511281,2
    --2707726(+) CCAGGA/TCACCC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for SLC22A18 (2920951 - 2946476 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/19 variations for SLC22A18 (see all 19):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv998342CNV Deletion20482838
    esv2744016CNV Deletion23290073
    esv2744020CNV Deletion23290073
    esv2744018CNV Deletion23290073
    dgv153e201CNV Deletion23290073
    dgv152e201CNV Deletion23290073
    esv2744017CNV Deletion23290073
    nsv469930CNV Loss18288195
    dgv1013n71CNV Loss21882294
    nsv467657CNV Loss19166990

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SLC22A18

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 602631   
    OMIM disorders: 114480  268210  211980  
    UniProtKB/Swiss-Prot: S22AI_HUMAN, Q96BI1
  • 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. Note=The gene represented in this entry may be involved in disease pathogenesis
  • Rhabdomyosarcoma 1 (RMS1) [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

  • 17 diseases for SLC22A18:    About MalaCards
    lung cancer    botryoid rhabdomyosarcoma    wilms tumor    adrenocortical carcinoma
    beckwith-wiedemann syndrome    rhabdomyosarcoma    hepatoblastoma    nephroblastoma
    agnosia    soft tissue sarcoma    alcohol dependence    breast cancer
    alcoholism    sarcoma    ovarian cancer    squamous cell carcinoma
    adenocarcinoma

    1 disease from the University of Copenhagen DISEASES database for SLC22A18:
    Pain agnosia

    SLC22A18 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for SLC22A18 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    beckwith-wiedemann syndrome 83.1 2 9520460 (1)
    hepatoblastoma 76.3 1 9570947 (1)
    wilms tumor 72.1 3 9751628 (2), 9570947 (1)
    rhabdomyosarcoma 67.4 1 9520460 (1)
    tumors 7.48 10 15239143 (3), 16314844 (2), 9520460 (2), 9751628 (1) (see all 5)
    breast cancer 4.64 2 16624517 (1), 9520460 (1)

    Genetic Association Database (GAD): SLC22A18
    Human Genome Epidemiology (HuGE) Navigator: SLC22A18 (1 document)

    Export disorders for SLC22A18 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SLC22A18 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with SLC22A18)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. IMPT1, an imprinted gene similar to polyspecific transporter and multi-drug resistance genes. (PubMed id 9499412)1, 2, 3, 9 Dao D....Tycko B. (1998)
    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. (PubMed id 9520460)1, 2, 3, 9 Schwienbacher C.... Negrini M. (1998)
    3. Tumor suppressor candidate TSSC5 is regulated by UbcH6 and a novel ubiquitin ligase RING105. (PubMed id 16314844)1, 2, 9 Yamada H.Y. and Gorbsky G.J. (2006)
    4. Somatic mutation of TSSC5, a novel imprinted gene from human chromosome 11p15.5. (PubMed id 9751628)1, 2, 9 Lee M.P.... Feinberg A.P. (1998)
    5. Functional characterization of ORCTL2 -- an organic cation transporter expressed in the renal proximal tubules. (PubMed id 9744804)1, 2, 9 Reece M.... Pelletier J. (1998)
    6. Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain. (PubMed id 9570947)1, 2, 9 Cooper P.R....Higgins M.J. (1998)
    7. Genome-wide association meta-analysis for total serum bilirubin levels. (PubMed id 19414484)1, 4 Johnson A.D....Witteman J.C. (2009)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. A novel gene, ITM, located between p57KIP2 and IPL, is imprinted in mice. (PubMed id 9802569)1, 2 Morisaki H.... Mukai T. (1998)
    10. Gain of imprinting of SLC22A18 sense and antisense transcripts in human breast cancer. (PubMed id 16624517)1, 9 Gallagher E....Mc Cann A. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5002 HGNC: 10964 AceView: SLC22A18 Ensembl:ENSG00000110628 euGenes: HUgn5002
    ECgene: SLC22A18 H-InvDB: SLC22A18

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SLC22A18 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SLC22A18 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SLC22A18 gene:
    Search GeneIP for patents involving SLC22A18

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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