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SLC22A18AS Gene

protein-coding   GIFtS: 39
GCID: GC11M002920

Solute Carrier Family 22 (Organic Cation Transporter), Member...

(Previous names: solute carrier family 22 (organic cation transporter), member...)
(Previous symbols: BWSCR1B, ORCTL2S, SLC22A1LS)
  See related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Solute Carrier Family 22 (Organic Cation Transporter), Member 18
Antisense1 2
     BWR1B2 3
BWSCR1B1 2 3 5     p27-BWR1B2 3
ORCTL2S1 2 3 5     P27-Beckwith-Wiedemann Region 1 B2 3
SLC22A1LS1 2 3 5     Beckwith-Wiedemann Region 1B2
Solute Carrier Family 22 (Organic Cation Transporter), Member 1-Like
Antisense1 2
     Beckwith-Wiedemann Syndrome Chromosomal Region 1 Candidate Gene B Protein2
Organic Cation Transporter-Like Protein 2 Antisense Protein2 3     Beckwith-Wiedemann Syndrome Chromosome Region 1, Candidate B2
Solute Carrier Family 22 Member 1-Like Antisense Protein2 3     Organic Cation Transporter-Like 2 Antisense2
Solute Carrier Family 22 Member 18 Antisense Protein2 3     

External Ids:    HGNC: 109651   Entrez Gene: 50032   Ensembl: ENSG000002548277   OMIM: 6032405   UniProtKB: Q8N1D03   

Export aliases for SLC22A18AS gene to outside databases

Previous GC identifers: GC11M002866 GC11M002697 GC11M002910 GC11M002911 GC11M002915


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for SLC22A18AS Gene:
SLC22A18AS (solute carrier family 22 (organic cation transporter), member 18 antisense) is a protein-coding gene. Diseases associated with SLC22A18AS include beckwith-wiedemann syndrome.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000011.10  NC_018922.2  NT_009237.19  NT_187585.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC22A18AS gene promoter:
         c-Fos   RP58   RFX1   AP-1   Pax-5   NRSF form 2   YY1   MZF-1   Zic1   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC22A18AS


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

SLC22A18AS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC22A18AS gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M002920:  view genomic region     (about GC identifiers)

Start:
2,909,010 bp from pter      End:
2,925,175 bp from pter
Size:
16,166 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BWR1B_HUMAN, Q8N1D0 (See protein sequence)
Recommended Name: Beckwith-Wiedemann syndrome chromosomal region 1 candidate gene B protein  
Size: 253 amino acids; 27061 Da
Secondary accessions: E9PLK8 O43563
Alternative splicing: 2 isoforms:  Q8N1D0-1   Q8N1D0-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SLC22A18AS: NX_Q8N1D0

REFSEQ proteins: NP_009036.2  
ENSEMBL proteins: 
 ENSP00000433282   ENSP00000435592   ENSP00000434027  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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ProtoNet protein and cluster: Q8N1D0


(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,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003674molecular_function ND--
     
SLC22A18AS for ontologies           About GeneDecksing


Animal Models:
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005575cellular_component ND--

SLC22A18AS for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SLC22A18AS
Interactions:

    Search GeneGlobe Interaction Network for SLC22A18AS

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0008150biological_process ND--

SLC22A18AS for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for SLC22A18AS (BWR1B)



(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SLC22A18AS gene: 
NM_007105.2  

Unigene Cluster for SLC22A18AS:

Solute carrier family 22 (organic cation transporter), member 18 antisense
Hs.300076  [show with all ESTs]
Unigene Representative Sequence: NM_007105
3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000533594(uc001lwv.4 uc001lww.4) ENST00000526203 ENST00000455942

miRNA
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Additional mRNA sequence: 

AF035407.1 AF037066.1 BC030237.1 

3 DOTS entries:

DT.110771  DT.100000075  DT.99964859 

Selected AceView cDNA sequences (see all 28):

AI344199 AI249702 AI360403 AA568717 NM_007105 BC030237 BF590806 AA480374 
CB129046 AF037066 BF591336 AI143559 AF035407 N35348 R07294 AA887729 
AI198427 BV192729 BU602253 BX092944 AW188584 AW772496 BU631006 AI869930 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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SLC22A18AS expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CACACAAGGG
SLC22A18AS Expression
About this image

SLC22A18AS Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.300076

UniProtKB/Swiss-Prot: BWR1B_HUMAN, Q8N1D0
Tissue specificity: Most abundantly expressed in gastrointestinal tissues. Expressed at lower levels in kidney and
placenta. Expressed in fetal brain, liver, placenta, kidney and lung

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In Situ
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(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)
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This gene was present in the common ancestor of human and chimp.

Orthologs for SLC22A18AS gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chimpanzee
(Pan troglodytes)
Mammalia SLC22A18AS1 solute carrier family 22 (organic cation transporter), more 98.81(n)
98.02(a)
  742960  XM_001155102.2  XP_001155102.1 


ENSEMBL Gene Tree for SLC22A18AS (if available)
TreeFam Gene Tree for SLC22A18AS (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for SLC22A18AS (see all 204)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1419136431,2
--2909036(+) CTTTTA/GTTTTT 1 -- int10--------
rs775046911,2
C,F--2909264(+) GCTGGG/AGGCTG 1 -- int11Minor allele frequency- A:0.03WA 118
rs728500171,2
C--2909393(+) CAAAAG/TGAACA 1 -- ut313Minor allele frequency- T:0.10CSA NA EA 242
rs1460948101,2
C--2909507(+) GGTTGA/GGGGGG 2 P L mis10--------
rs1905337431,2
C--2909513(+) GGGGGC/TGGGGG 2 H R mis10--------
rs1823033641,2
C--2909523(+) GAGACC/TGCTGT 2 S G mis10--------
rs1398938011,2
C--2909573(+) GTCCTA/GTCATT 2 T I mis10--------
rs1145810181,2
C,F--2909574(+) TCCTGT/GCATTC 2 /T /P mis11Minor allele frequency- G:0.06WA 118
rs1870867951,2
C--2909582(+) TTCTTG/TCCCCC 2 E A mis10--------
rs801532971,2
C,F--2909699(+) GGGACC/TCGTTT 2 E G mis11Minor allele frequency- T:0.10WA 118

HapMap Linkage Disequilibrium report for SLC22A18AS (2909010 - 2925175 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for SLC22A18AS (see all 18):    About this table    
Variant IDTypeSubtypePubMed ID
esv2744015CNV Deletion23290073
esv2181696CNV Deletion18987734
nsv469930CNV Loss18288195
dgv1013n71CNV Loss21882294
nsv467657CNV Loss19166990
dgv1011n71CNV Loss21882294
nsv467658CNV Loss19166990
nsv467655CNV Loss19166990
dgv1010n71CNV Loss21882294
dgv1006n71CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603240    OMIM disorders: --

1 disease for SLC22A18AS:    
About MalaCards
beckwith-wiedemann syndrome


SLC22A18AS for disorders           About GeneDecksing

Genetic Association Database (GAD): SLC22A18AS
Human Genome Epidemiology (HuGE) Navigator: SLC22A18AS (1 document)

Export disorders for SLC22A18AS 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)
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PubMed articles for SLC22A18AS gene integrated from 10 sources:
(articles sorted by number of sources associating them with SLC22A18AS)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Paternal imprinting of the SLC22A1LS gene located in the human chromosome segment 11p15.5. (PubMed id 15175115)1, 2, 3, 9 Bajaj V.... Kumar A. (BMC Genet. 2004)
  2. Divergently transcribed overlapping genes expressed in liver and kidney and located in the 11p15.5 imprinted domain. (PubMed id 9570947)1, 2, 3, 9 Cooper P.R....Higgins M.J. (Genomics 1998)
  3. 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 Schwienbacher C.... Negrini M. (Proc. Natl. Acad. Sci. U.S.A. 1998)
  4. 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. (Genome Res. 2004)
  5. Promoter characterization and regulation of expression of an imprinted gene SLC22A18AS. (PubMed id 18721868)1, 9 Bajaj V....Kumar A. (Gene 2008)
  6. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811)2 Taylor T.D....Sakaki Y. (Nature 2006)
  7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  8. Identification of a novel single nucleotide polymorphism (SNP) in the human organic cation transporter-like 2-antisense (ORCTL2S) gene. (PubMed id 10697966)9 Higashimoto K....Mukai T. (J. Hum. Genet. 2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
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)
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Entrez Gene: 5003 HGNC: 10965 AceView: SLC22A1LS Ensembl:ENSG00000254827 euGenes: HUgn5003
ECgene: SLC22A18AS H-InvDB: SLC22A18AS

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for SLC22A18AS Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for SLC22A18AS gene:
Search GeneIP for patents involving SLC22A18AS

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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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