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

SLC22A4 Gene

protein-coding   GIFtS: 62
GCID: GC05P131658

Solute Carrier Family 22 (Organic Cation/Zwitterion Transporter),...

(Previous names: solute carrier family 22 (organic cation/ergothioneine transporter),...)
Microbiology & Infectious Diseases Congress
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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 (Organic Cation/Zwitterion Transporter),
Member 41 2
     ET Transporter2 3
OCTN12 3 5     Integral Membrane Transport Protein2
Solute Carrier Family 22 (Organic Cation/Ergothioneine Transporter),
Member 41 2
     Solute Carrier Family 22 Member 42
Ergothioneine Transporter2 3     ETT3
Organic Cation/Carnitine Transporter 12 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


(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 Gene:
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)

GeneCards Summary for SLC22A4 Gene: 
SLC22A4 (solute carrier family 22 (organic cation/zwitterion transporter), member 4) is a protein-coding gene. Diseases associated with SLC22A4 include crohn's disease, and rheumatoid arthritis, association with, 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 symporter activity and nucleotide binding. An important paralog of this gene is SLC22A11.

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 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_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SLC22A4 gene promoter:
         AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC22A4 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

(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: 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

Explore proteomics data for SLC22A4 at MOPED 

Post-translational modifications:

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

  • SLC22A4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC22A4 Protein Expression
    REFSEQ proteins: NP_003050.2  
    ENSEMBL proteins: 
     ENSP00000200652  
    Reactome Protein details: Q9H015
    Human Recombinant Protein Products for SLC22A4: 
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    Gene Ontology (GO): 5 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:0016021integral to membrane ----
    GO:0016324apical plasma membrane IDA18641280

    SLC22A4 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/carnitine transporter 1 
    Organic zwitterions/cation transporters (OCTN)

    5 InterPro protein domains:
     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


    SLC22A4 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: 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

         Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    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:0015075ion transmembrane transporter activity ----
         
    SLC22A4 for ontologies           About GeneDecksing


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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 SLC22A4 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 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): 5/9 biological process terms (GO ID links to tree view) (see all 9):    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



    (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

    SLC22A4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for SLC22A4 (S22A4)

    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--

    10/27 DrugBank Compounds for SLC22A4 (see all 27)    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 11)50-47-5transporterinhibitor10825452

    10/16 Novoseek inferred 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

    (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,
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    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

    Congresses - knowledge worth sharing:  
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    Additional mRNA sequence: 

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

    2 DOTS entries:

    DT.412871  DT.120834236 

    17 AceView cDNA sequences:

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

    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™, 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)      SLC22A4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGTCAAGG
    SLC22A4 Expression
    About this image


    SLC22A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/11 selected tissues (see all 11) fully expand
     
     Brain (Nervous System)    fully expand to see all 6 entries
             ganglion/cranial/facial VII   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
             umbilical cord reticulocytes   
     
     Epithelium (Respiratory System)    fully expand to see all 2 entries
             bronchial epithelia   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   
     
     Nose (Sensory Organs)
             nasal epithelium   

    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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    (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 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc22a41 , 5 solute carrier family 22 (organic cation transporter), member 4 less1, 5 86.93(n)1
    85.12(a)1
      11 (32.07 cM)5
    308051  NM_019687.31  NP_062661.11 
     539831235 
    chicken
    (Gallus gallus)
    Aves SLC22A41 solute carrier family 22 (organic cation transporter), member 4 less 78.02(n)
    77.23(a)
      416327  NM_001146131.1  NP_001139603.1 
    lizard
    (Anolis carolinensis)
    Reptilia SLC22A46
    Uncharacterized protein
    75(a)
    1 ↔ 1
    2(127902870-127973293)
    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   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons 1-Oct1 organic cation/carnitine transporter1 43.89(n)
    32.41(a)
      843656  NM_105981.3  NP_565059.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SLC22A4 gene
    SLC22A112  SLC22A52  SLC22A82  SLC22A12  SLC22A242  SLC22A22  SLC22A102  SLC22A132  
    SLC22A92  SLC22A62  SLC22A152  SLC22A122  SLC22A72  SLC22A162  SLC22A32  SLC22A252  
    13 SIMAP similar genes for SLC22A4 using alignment to 2 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



    (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

    10/1066 SNPs in SLC22A4 are shown (see all 1066)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs10501521,2,4
    C,F,Hnon-pathogenic1131952171(+) GAATCC/TTCACC 2 L F mis1 ese327Minor allele frequency- T:0.27NA NS EA EU 8877
    rs1922533971,2
    --126834371(+) ATATAA/TATATA 1 -- int10--------
    rs3691671961,2
    C--131633712(+) TTGAA-/CCCTTG 1 -- int10--------
    rs1474448431,2
    C--131635088(+) TTTCG-/TTTTA 
            
    TTTTA
    1 -- int10--------
    rs4047711,2
    C,A--131635092(+) GTTTTT/ATTTTA 1 -- int15Minor allele frequency- A:0.00NA WA CSA 8
    rs678068761,2
    C--131635113(+) TTTTATTTTA/
            
    TTTTA
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs1116752891,2
    C--131635292(+) AGTTTTTTG/-  
            
    TTTGT
    1 -- int11Minor allele frequency- -:0.50CSA 2
    rs578122591,2
    C--131635295(+) TGTTT-/GTTT  
            
    TTTGT
    1 -- int11Minor allele frequency- GTTT:0.50NA 2
    rs2012823711,2
    C--131637519(+) TTTCT-/TTC   
      T
    /TTTC
    ATCAG
    1 -- int10--------
    rs578670251,2
    C--131638989(+) ACACA-/AC/CA 
            
    TTTAG
    1 -- int10--------

    HapMap Linkage Disequilibrium report for SLC22A4 (131630136 - 131679899 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for SLC22A4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv882898CNV Loss21882294
    nsv882890CNV Loss21882294
    nsv882903CNV Loss21882294
    dgv6331n71CNV Loss21882294
    dgv6330n71CNV Loss21882294
    dgv6328n71CNV Loss21882294
    nsv882902CNV Loss21882294
    nsv882904CNV Loss21882294
    dgv6329n71CNV Loss21882294
    dgv6327n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): SLC22A4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC22A4
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC22A4

    (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: 604190   
    OMIM disorders: 180300  
    UniProtKB/Swiss-Prot: S22A4_HUMAN, Q9H015
  • Rheumatoid arthritis (RA) [MIM:180300]: An 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. Note=Disease susceptibility is associated with
    variations affecting the gene represented in this entry

  • 20/26 diseases for SLC22A4 (see all 26):    About MalaCards
    crohn's disease    rheumatoid arthritis, association with    primary sclerosing cholangitis    sclerosing cholangitis
    cholangitis    inflammatory bowel disease    ulcerative colitis    rheumatoid arthritis
    psoriatic arthritis    barrett's esophagus    primary biliary cirrhosis    arthritis
    germ cell tumors    bronchiolitis    chronic obstructive pulmonary disease    cytochrome p450
    type 1 diabetes    psoriasis    cystic fibrosis    systemic lupus erythematosus

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

    SLC22A4 for disorders           About GeneDecksing

    6 Novoseek inferred 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

    (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 156):
    (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. The effects of genetic polymorphisms in the organic c ation transporters OCT1, OCT2, and OCT3 on the renal clearance of metformin. (PubMed id 19536068)1, 4, 7, 9 Tzvetkov M.V....BrockmAPller J. (2009)
    4. 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)
    5. 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)
    6. 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)
    7. Effects of genetic variation in the novel organic cation transporter, OCTN1, on the renal clearance of gabapentin. (PubMed id 17609685)1, 4, 9 Urban T.J....Giacomini K.M. (2008)
    8. 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)
    9. Functional genetic variation in the basal promoter of the organic cation/carnitine transporters OCTN1 (SLC22A4) and OCTN2 (SLC22A5). (PubMed id 19141711)1, 4, 9 Tahara H....Giacomini K.M. (2009)
    10. Genetic variations of the SLC22A4 gene in Chinese and Indian populations of Singapore. (PubMed id 19881261)1, 4, 9 Toh D.S....Lee E.J. (2009)

    (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: 6583 HGNC: 10968 AceView: SLC22A4.1 Ensembl:ENSG00000197208 euGenes: HUgn6583
    ECgene: SLC22A4 H-InvDB: SLC22A4

    (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 SLC22A4 Pharmacogenomics, SNPs, Pathways

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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