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

SLC22A4 Gene

protein-coding   GIFtS: 60
GCID: GC05P131658

solute carrier family 22 (organic cation/ergothioneine transporter),...
 Explore 28 diseases affiliated with
SLC22A4 via
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Biological research products
for SLC22A4    

Aliases
for SLC22A4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Solute Carrier Family 22 (Organic Cation/Ergothioneine Transporter), Member
41 2
     MGC345461
OCTN11 2 3 5     Integral Membrane Transport Protein2
Ergothioneine Transporter2 3     Solute Carrier Family 22 Member 42
Organic Cation/Carnitine Transporter 12 3     ETT3
ET Transporter2 3     UT2H3

External Ids:    HGNC: 109681   Entrez Gene: 65832   Ensembl: ENSG000001972087   OMIM: 6041905   UniProtKB: Q9H0153   

Export aliases for SLC22A4 gene to outside databases

Previous GC identifers: GC05P131152 GC05P132077 GC05P131660 GC05P131706 GC05P126822


Summaries
for SLC22A4 gene

(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 SLC22A4:
Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination
of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded
protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane
domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: S22A4_HUMAN, Q9H015
Function: Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one
molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of
sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be
ergothioneine (ET)

Gene Wiki entry for SLC22A4


Genomic Views
for SLC22A4 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC22A4 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SLC22A4 promoter sequence
   Search SABiosciences Chromatin IP Primers for SLC22A4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SLC22A4


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

Entrez Gene cytogenetic band: 5q31.1   Ensembl cytogenetic band:  5q31.1   HGNC cytogenetic band: 5q23.3

SLC22A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC22A4 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P131658:  view genomic region     (about GC identifiers)

Start:
 131,630,136 bp from pter      End:
 131,679,899 bp from pter
Size:
 49,764 bases      Orientation:
 plus strand

Proteins
for SLC22A4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: S22A4_HUMAN, Q9H015 (See protein sequence)
Recommended Name: Solute carrier family 22 member 4  
Size: 551 amino acids; 62155 Da
Subunit: Interacts with PDZK1 (By similarity)
Subcellular location: Membrane; Multi-pass membrane protein
Caution: PubMed:9426230 reported that this protein does not transport carnitine, however, experiments were done with
the Phe-503 variant, which affects the ability to transport carnitine. PubMed:15459889 showed that, although weakly,
it can also transport carnitine at some level. Its function in carnitine transport is therefore unclear
Secondary accessions: O14546

Explore the universe of human proteins at neXtProt for SLC22A4: NX_Q9H015

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9H015

    • SLC22A4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_003050.2  
    ENSEMBL proteins: 
     ENSP00000200652   ENSP00000394028  
    Reactome Protein details: Q9H015
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    Uscn Proteins for SLC22A4

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA16729965
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9426230
    GO:0016324apical plasma membrane IDA18641280


    SLC22A4 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SLC22A4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SLC22A4 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR005829 Sugar_transporter_CS
     IPR005828 Sub_transporter
     IPR020846 MFS_dom
     IPR004749 Orgcat_transp
     IPR016196 MFS_dom_general_subst_transpt

    Graphical View of Domain Structure for InterPro Entry Q9H015

    ProtoNet protein and cluster: Q9H015

    UniProtKB/Swiss-Prot: S22A4_HUMAN, Q9H015
    Similarity: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family


    Function
    for SLC22A4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: S22A4_HUMAN, Q9H015
    Function: Sodium-ion dependent, low affinity carnitine transporter. Probably transports one sodium ion with one
    molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of
    sodium. Relative uptake activity ratio of carnitine to TEA is 1.78. A key substrate of this transporter seems to be
    ergothioneine (ET)
    Biophysicochemical properties: Kinetic parameters: KM=0.470 mM for TEA (at 37 degrees Celsius and pH 7.4); Vmax=0.974
    nmol/min/mg enzyme toward TEA (at 37 degrees Celsius and pH 7.4); pH dependence: More active at neutral and alkaline
    pHs than at acidic pHs;
    Induction: Overexpressed upon TNF treatment

         Genatlas biochemistry entry for SLC22A4:
    solute carrier family 22,member A4,polyspecific transporter of organic cations,strongly expressed in kidney

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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding TAS9426230
    GO:0005515protein binding IPI15523054
    GO:0005524ATP binding IEA--
    GO:0008513secondary active organic cation transmembrane transporter activity TAS9426230
    GO:0015226carnitine transmembrane transporter activity IDA16729965


    SLC22A4 for ontologies           About GeneDecksing



    Pathways & Interactions
    for SLC22A4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SLC-mediated transmembrane transport
    		SLC-mediated transmembrane transport1.00
    		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 transport1.00
    		Organic cation transport0.62

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for SLC22A4
        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



    SLC22A4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC22A4

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for SLC22A4 (Q9H0153 ENSP000002006524) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC9A3R1O147453, ENSP000002626134I2D: score=1 STRING: ENSP00000262613
    PDZK1Q5T2W13, ENSP000003421434I2D: score=2 STRING: ENSP00000342143
    SLC9A3R2Q155993, ENSP000004080054I2D: score=1 STRING: ENSP00000408005
    PDZD3ENSP000003271074STRING: ENSP00000327107
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006641triglyceride metabolic process IEA--
    GO:0006814sodium ion transport IEA--
    GO:0007589body fluid secretion TAS9426230
    GO:0009437carnitine metabolic process IEA--
    GO:0015695organic cation transport TAS9426230


    SLC22A4 for ontologies           About GeneDecksing



    Drugs & Compounds
    for SLC22A4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SLC22A4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC22A4

    3 HMDB Compounds for SLC22A4    About this table
    CompoundSynonyms CAS #PubMed Ids
    ErgothioneineErgothionine (see all 5)497-30-3--
    L-Carnitine(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)541-15-1--
    SodiumSodium (see all 2)7440-23-5--

    10/25 DrugBank Compounds for SLC22A4 (see all 25)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Carnitine(-)-Carnitine (see all 6)541-15-1target--14506273 12181285 16997449 16246312
    transportersubstrate inhibitor14506273 12181285 16997449 16246312 11010964 10215651
    Cimetidine-- 51481-61-9transporterinhibitor10825452 10215651
    NicotineL-Nicotine (see all 2)54-11-5transporterinhibitor10825452 10215651
    Procainamide-- 51-06-9transporterinhibitor10825452 10215651
    VerapamilVerapamil [Usan:Ban:Inn] (see all 4)52-53-9transporterinhibitor10825452 10215651
    AmilorideAmilorida [INN-Spanish] (see all 6)2016-88-8transporterinhibitor10825452
    AminohippurateAminohippurate Sodium (see all 7)94-16-6transporterinhibitor10215651
    CholineBilineurine (see all 7)62-49-7transporterinhibitor10215651
    ClonidineChlornidinum (see all 6)4205-90-7transporterinhibitor10215651
    DesipramineDemethylimipramine (see all 12)50-47-5transporterinhibitor10825452

    10/16 Novoseek chemical compound relationships for SLC22A4 gene (see all 16)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ergothioneine 93.8 34 17532304 (7), 17086603 (4), 18670092 (3), 15795384 (3) (see all 8)
    moxa 80.8 2 15028572 (1), 11414662 (1)
    carnitine 80.2 40 14506273 (6), 16729965 (4), 18670092 (2), 17142562 (2) (see all 18)
    cirazoline 66.1 2 15028572 (1), 11414662 (1)
    quinidine 58.3 6 19528813 (4)
    tetraethylammonium 57.3 9 15459889 (2), 15795384 (2), 10825452 (1)
    moxonidine 56.7 2 15028572 (1), 11414662 (1)
    desipramine 43.5 2 15028572 (1), 11414662 (1)
    verapamil 38.8 2 15028572 (1), 11414662 (1)
    putrescine 31.7 1 15028572 (1)

    Search CenterWatch for drugs/clinical trials and news about SLC22A4 / S22A4 

    Transcripts
    for SLC22A4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SLC22A4 gene: 
    NM_003059.2  

    Unigene Cluster for SLC22A4:

    Solute carrier family 22 (organic cation/ergothioneine transporter), member 4
    Hs.310591  [show with all ESTs]
    Unigene Representative Sequence: NM_003059
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000200652(uc003kwq.3) ENST00000491257(uc010jdq.1) ENST00000425923


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    Inhib. RNA
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    Additional cDNA sequence: 

    AB007448.1 AK309243.1 AK310818.1 BC028313.1 Y09881.1 

    2 DOTS entries:

    DT.412871  DT.120834236 

    17 AceView cDNA sequences:

    BX492102 BX091654 BX538252 AW027260 BG831622 BM045364 AA910874 BG748566 
    AA424257 AW139326 AV724303 BG012623 BG681821 BG201058 AA228830 AL699579 
    BG436520 

    GeneLoc Exon Structure


    Expression
    for SLC22A4 gene

    (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

    SLC22A4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAGTCAAGG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SLC22A4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeRetinaEye
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Fetal cardiomyocytes (20 weeks) (Primary Cell)Heart, Myocardium

    See SLC22A4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC22A4

    SOURCE GeneReport for Unigene cluster: Hs.310591

    UniProtKB/Swiss-Prot: S22A4_HUMAN, Q9H015
    Tissue specificity: Widely expressed. Highly expressed in whole blood, bone marrow, trachea and fetal liver. Weakly
    expressed in kidney, skeletal muscle, prostate, lung, pancreas, placenta, heart, uterus, spleen and spinal cord.
    Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68
    macrophage and CD43 T-cells but not in CD20 B-cells. Predominantly expressed in CD14 cells in peripheral blood
    mononuclear cells

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    In Situ
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    Orthologs
    for SLC22A4 gene

    (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 eukaryotes.

    Orthologs for SLC22A4 gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves SLC22A41 solute carrier family 22 (organic cation transporter), more 78.02(n)
    77.23(a)    		   416327  NM_001146131.1  NP_001139603.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SLC22A46
    		 --
    		 77(a)
    		 1 ↔ 1
    		 2(127908391-127973293)
    zebrafish
    (Danio rerio)    		 Actinopterygii LOC1000006851 similar to OCTN2 protein 56.95(n)
    49.16(a)    		   100000685  XM_001340800.2  XP_001340836.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Orct3 carnitine transporter 36(a)
    (best of 18)    		   95F8   --
    worm
    (Caenorhabditis elegans)    		 Secernentea oct-13 transporter 30(a)
    (best of 7)    		   I(9896504-9899565)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons 1-Oct1 organic cation/carnitine transporter1 43.89(n)
    32.41(a)    		   843656  NM_105981.3  NP_565059.2 
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 5)    		 organic cation transporter protein, putative, expr...
    organic cation transporter-related, putative, expr...
    (see all 5)    		 25(a)
    23(a)
    (see all 5)    		 many ↔ many
    many ↔ many
    (see all 5)    		 4(31952709-31956074)
    7(22473568-22476194)


    ENSEMBL Gene Tree for SLC22A4 (if available)
    TreeFam Gene Tree for SLC22A4 (if available) 

    Paralogs
    for SLC22A4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC22A4 gene
    SLC22A82  SLC22A12  SLC22A102  SLC22A152  SLC22A72  SLC22A122  SLC22A112  SLC22A52  
    SLC22A242  SLC22A22  SLC22A132  SLC22A92  SLC22A62  SLC22A252  SLC22A162  SLC22A32  
    13 SIMAP similar genes for SLC22A4 using alignment to 3 protein entries:     S22A4_HUMAN (see all proteins):
    SLC22A5    SLC22A15    SLC22A1    SLC22A16    SLC22A2    SLC22A13
    SLC22A3    SLC22A7    SLC22A8    SLC22A6    SLC22A12    SLC22A11
    SLC22A20

    SLC22A4 for paralogs           About GeneDecksing



    Genomic Variants
    for SLC22A4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/949 NCBI SNPs in SLC22A4 are shown (see all 949)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs10501521,2
    		C,F,H,non-pathogenic141084845(+) GAATCC/TTCACC 2 L F mis1 ese327Minor allele frequency- T:0.27NA NS EA EU 8877
    rs623841531,2
    		--126821104(+) CCCTCC/TGCCTC 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs754741451,2
    		--126821186(+) TTTTAC/TCTGCC 1 -- us2k10--------
    rs1115981761,2
    		--126821503(+) GACAGC/TGCCTC 1 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs5828491,2
    		F--126821964(+) CGTGGG/CAGCCT 1 -- us2k11Minor allele frequency- C:0.04MN 184
    rs6798961,2
    		C--126821984(+) CTCCAG/CATTGG 1 -- us2k12Minor allele frequency- C:0.00MN EA 364
    rs1665871,2
    		C,H--126822076(+) AACTCG/TCTCTC 1 -- us2k13Minor allele frequency- T:0.00MN NS NA 306
    rs725579901,2
    		F--126822315(+) CCTTCC/G/TCCGCG 1 -- us2k11--542
    rs352600721,2
    		C,F,--126823113(+) ACCCCC/AAGAAA 1 -- int12Minor allele frequency- A:0.50NA 4
    rs176219611,2
    		C,F,--126823144(+) GCATTC/TCTGGG 1 -- int13Minor allele frequency- T:0.02NA 138

    HapMap Linkage Disequilibrium report for SLC22A4 (131630136 - 131679899 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SLC22A4: --
    Human Gene Mutation Database (HGMD): SLC22A4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SLC22A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC22A4

    Disorders / Diseases
    for SLC22A4 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SLC22A4 for disorders           About GeneDecksing

    OMIM gene information: 604190   
    OMIM disorders: 180300  
    UniProtKB/Swiss-Prot: S22A4_HUMAN, Q9H015
  • Genetic variations in SLC22A4 are a cause of susceptibility to rheumatoid arthritis (RA) [MIM:180300]. It is a
    • systemic inflammatory disease with autoimmune features and a complex genetic component. It primarily affects the
    joints and is characterized by inflammatory changes in the synovial membranes and articular structures, widespread
    fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony
    structures

    20/28 diseases for SLC22A4 (see all 28):    About MalaCards
    sclerosing cholangitis    primary sclerosing cholangitis    rheumatoid arthritis    inflammatory bowel disease
    primary biliary cirrhosis    pediatric crohns disease    chronic obstructive pulmonary disease    carnitine deficiency
    barrett's esophagus    cholangitis    systemic lupus erythematosus    lupus erythematosus
    germ cell tumor    rheumatoid arthritis, association with    psoriatic arthritis    arthritis
    crohn's disease    ulcerative colitis    cystic fibrosis    pulmonary disease

    3 diseases from the University of Copenhagen DISEASES database for SLC22A4:
    Crohn's disease     Ulcerative colitis     Rheumatoid arthritis

    6 Novoseek disease relationships for SLC22A4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    inflammatory bowel diseases 59.3 2 16519742 (1)
    rheumatoid arthritis 40.3 14 17142562 (2), 17086603 (1), 16796743 (1), 18328148 (1) (see all 9)
    genetic susceptibility 32.8 1 16333318 (1)
    necrosis 0 1 17142562 (1)
    tumors 0 1 17142562 (1)
    cancer 0 1 12021398 (1)

    Genetic Association Database (GAD): SLC22A4
    Human Genome Epidemiology (HuGE) Navigator: SLC22A4 (70 documents)

    Export disorders for SLC22A4 gene to outside databases

    Publications
    for SLC22A4 gene

    (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 SLC22A4 gene, integrated from 9 sources (see all 151):
    (articles sorted by number of sources associating them with SLC22A4)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Discovery of the ergothioneine transporter. (PubMed id 15795384)1, 2, 3, 9 Gruendemann D.... Schoemig E. (2005)
    2. Cloning and characterization of a novel human pH-dependent organic cation transporter, OCTN1. (PubMed id 9426230)1, 2, 3, 9 Tamai I.... Tsuji A. (1997)
    3. Functional variants of OCTN cation transporter genes are associated with Crohn disease. (PubMed id 15107849)1, 2, 4 Peltekova V.D.... Siminovitch K.A. (2004)
    4. An intronic SNP in a RUNX1 binding site of SLC22A4, encoding an organic cation transporter, is associated with rheumatoid arthritis. (PubMed id 14608356)1, 2, 4 Tokuhiro S.... Yamamoto K. (2003)
    5. Novel membrane transporter OCTN1 mediates multispecific, bidirectional, and pH-dependent transport of organic cations. (PubMed id 10215651)1, 2, 7 Yabuuchi H.... Tsuji A. (1999)
    6. Functional characterization of human organic cation transporter OCTN1 single nucleotide polymorphisms in the Japanese population. (PubMed id 15459889)1, 2, 9 Kawasaki Y.... Tsuji A. (2004)
    7. Transport of ipratropium, an anti-chronic obstructive pulmonary disease drug, is mediated by organic cation/carnitine transporters i n human bronchial epithelial cells: implications for carrier-mediated pulmonary absorption. (PubMed id 20020740)1, 7, 9 Nakamura T....Tamai I. (2010)
    8. Investigation of the SLC22A4 gene (associated with rheumatoid arthritis in a Japanese population) in a United Kingdom population of rheumatoid arthritis patients. (PubMed id 15751072)1, 4, 9 Barton A....Worthington J. (2005)
    9. The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn's disease. (PubMed id 16344054)1, 4, 9 Noble C.L....Satsangi J. (2005)
    10. Association of the organic cation transporter OCTN genes with Crohn's disease in the Spanish population. (PubMed id 16333318)1, 4, 9 Martinez A....Urcelay E. (2006)

    External Searches for SLC22A4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SLC22A4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6583 HGNC: 10968 AceView: SLC22A4.1 Ensembl:ENSG00000197208 euGenes: HUgn6583
    ECgene: SLC22A4 H-InvDB: SLC22A4

    Other Databases showing SLC22A4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SLC22A4 gene

    (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 SLC22A4 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for SLC22A4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SLC22A4 gene:
    Search GeneIP for patents involving SLC22A4

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



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