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SLC22A5 Gene

protein-coding   GIFtS: 64
GCID: GC05P131733

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


(Previous symbol: CDSP)
  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)
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Aliases
Solute Carrier Family 22 (Organic Cation/Carnitine Transporter), Member
51 2
     High-Affinity Sodium Dependent Carnitine Cotransporter2
CDSP1 2 5     Solute Carrier Family 22 Member 52
OCTN22 3 5     High-Affinity Sodium-Dependent Carnitine Cotransporter3
Organic Cation/Carnitine Transporter 22 3     SCD5
OCTN2VT2     

External Ids:    HGNC: 109691   Entrez Gene: 65842   Ensembl: ENSG000001973757   OMIM: 6033775   UniProtKB: O760823   

Export aliases for SLC22A5 gene to outside databases

Previous GC identifers: GC05P131227 GC05P132152 GC05P131661 GC05P131707 GC05P131708 GC05P126897


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SLC22A5 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 a plasma integral membrane protein which functions both as an organic cation transporter
and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active
cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency
(CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic
decompensation, and later in life by skeletal myopathy or cardiomyopathy. (provided by RefSeq, Jul 2008)

GeneCards Summary for SLC22A5 Gene:
SLC22A5 (solute carrier family 22 (organic cation/carnitine transporter), member 5) is a protein-coding gene. Diseases associated with SLC22A5 include systemic primary carnitine deficiency disease, and visceral steatosis. GO annotations related to this gene include PDZ domain binding and drug transmembrane transporter activity. An important paralog of this gene is SLC22A11.

UniProtKB/Swiss-Prot: S22A5_HUMAN, O76082
Function: Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of
carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as
tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to
TEA is 11.3

Gene Wiki entry for SLC22A5 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000005.10  NT_034772.7  NC_018916.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SLC22A5 gene promoter:
         E2F-3a   E2F-4   E2F-5   AML1a   Lmo2   MyoD   E2F-2   E2F-1   E2F   c-Myb   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSLC22A5 promoter sequence
   Search Chromatin IP Primers for SLC22A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SLC22A5


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

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

SLC22A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SLC22A5 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P131733:  view genomic region     (about GC identifiers)

Start:
131,705,401 bp from pter      End:
131,731,306 bp from pter
Size:
25,906 bases      Orientation:
plus 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: S22A5_HUMAN, O76082 (See protein sequence)
Recommended Name: Solute carrier family 22 member 5  
Size: 557 amino acids; 62752 Da
Subunit: Interacts with PDZK1 (By similarity)
Miscellaneous: Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by
valproic acid
Secondary accessions: A2Q0V1 B2R844 D3DQ87 Q6ZQZ8 Q96EH6
Alternative splicing: 3 isoforms:  O76082-1   O76082-2   O76082-3   (Retained in the ER, unable to perform carnitine uptake)

Explore the universe of human proteins at neXtProt for SLC22A5: NX_O76082

Explore proteomics data for SLC22A5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn57, Asn64, Asn91
  • Modification sites at PhosphoSitePlus

  • See SLC22A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003051.1  
    ENSEMBL proteins: 
     ENSP00000245407   ENSP00000400553   ENSP00000388838   ENSP00000401860   ENSP00000389284  
     ENSP00000402760  
    Reactome Protein details: O76082

    SLC22A5 Human Recombinant Protein Products:

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    Novus Biologicals SLC22A5 Proteins
    Novus Biologicals SLC22A5 Lysate
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

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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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    HGNC Gene Families:
    SLC: Solute carriers

    IUPHAR Guide to PHARMACOLOGY protein family classification: Organic cation/carnitine transporter 2
    Organic zwitterions/cation transporters (OCTN)

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

    Graphical View of Domain Structure for InterPro Entry O76082

    ProtoNet protein and cluster: O76082

    UniProtKB/Swiss-Prot: S22A5_HUMAN, O76082
    Similarity: Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19)
    family


    SLC22A5 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,
    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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: S22A5_HUMAN, O76082
    Function: Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of
    carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as
    tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to
    TEA is 11.3

         Genatlas biochemistry entry for SLC22A5:
    solute carrier family 22,member A5,63kDa,polyspecific transporter of organic cations,sodium ion dependent,high
    affinity carnitine transporter plasmalemmal,strongly expressed in kidney,skeletal muscle,heart,pancreas

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15523054
    GO:0005524ATP binding IEA--
    GO:0015075ion transmembrane transporter activity ----
    GO:0015226carnitine transmembrane transporter activity IMP9916797
    GO:0015238drug transmembrane transporter activity IC15238359
         
    SLC22A5 for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Slc22a5):
     cardiovascular system  growth/size/body  homeostasis/metabolism  liver/biliary system  mortality/aging 
     renal/urinary system  reproductive system 

    SLC22A5 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SLC22A5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC22A5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SLC22A5

    miRNA
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    miRTarBase miRNAs that target SLC22A5:
    hsa-mir-148b-3p (MIRT019378), hsa-mir-124-3p (MIRT002618), hsa-mir-9-5p (MIRT021427)

    Block miRNA regulation of human, mouse, rat SLC22A5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SLC22A5 (see all 31):
    hsa-miR-30c hsa-miR-302d hsa-miR-520e hsa-miR-495 hsa-miR-125a-3p hsa-miR-1271 hsa-miR-624* hsa-miR-302e
    SwitchGear 3'UTR luciferase reporter plasmidSLC22A5 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: SLC22A5 (NM_003060)
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SLC22A5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    S22A5_HUMAN, O76082: Membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0016323basolateral plasma membrane IEA--
    GO:0016324apical plasma membrane IDA17274673
    GO:0031526brush border membrane ISS15523054

    SLC22A5 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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    SuperPaths for SLC22A5 About    
    See pathways by source

    SuperPathContained pathways About
    1Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    SLC-mediated transmembrane transport0.47
    Organic cation/anion/zwitterion transport0.00
    Transmembrane transport of small molecules0.47
    Organic cation transport0.00
    Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for SLC22A5
        Organic cation transport



    SLC22A5 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SLC22A5: 
              Nephrotoxicity in human mouse rat
              PPAR Targets in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for SLC22A5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    Selected Interacting proteins for SLC22A5 (O760823 ENSP000002454074) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC9A3R1O147453, ENSP000002626134I2D: score=1 STRING: ENSP00000262613
    PDZK1Q5T2W13, ENSP000003421434I2D: score=1 STRING: ENSP00000342143
    SLC9A3R2Q155993, ENSP000004080054I2D: score=1 STRING: ENSP00000408005
    PDZD3ENSP000003271074STRING: ENSP00000327107
    ELAVL1ENSP000003852694STRING: ENSP00000385269
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006814sodium ion transport IEA--
    GO:0006855drug transmembrane transport IC15238359
    GO:0015697quaternary ammonium group transport IDA9618255
    GO:0015879carnitine transport IMP9916797
    GO:0015893drug transport IC15238359

    SLC22A5 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 SLC22A5 (S22A5)

    3 HMDB Compounds for SLC22A5    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Carnitine(-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate (see all 33)541-15-1--
    SodiumSodium (see all 2)7440-23-5--
    VerapamilAkilen (see all 107)52-53-9--

    Selected DrugBank Compounds for SLC22A5 (see all 53)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Carnitine(-)-Carnitine (see all 6)541-15-1target--12644265 12181285 12175785 12183691 12635840
    transportersubstrate12644265 12181285 12175785 12183691 12635840 10525100 12644265 10454528 12684216 11010964 11406104
    CholineBilineurine (see all 7)62-49-7transporterinhibitor11160873 10454528 9618255 11010964
    GuanidineAminomethanamidine (see all 9)113-00-8transporterinhibitor10525100 11160873 10454528 9618255
    Procainamide-- 51-06-9transporterinhibitor10525100 11160873 10454528 9618255
    Cimetidine-- 51481-61-9transporterinhibitor10525100 10454528 9618255
    NicotineL-Nicotine (see all 2)54-11-5transporterinhibitor10525100 10454528 9618255
    AminohippurateAminohippurate Sodium (see all 7)94-16-6transporterinhibitor10525100 11160873
    Amphetamine(+/-)-Benzedrine (see all 19)300-62-9transporterinhibitor10454528 9618255
    ClonidineChlornidinum (see all 6)4205-90-7transporterinhibitor10525100 10454528
    DopamineDopamin (see all 6)51-61-6transporterinhibitor11160873 10454528

    Selected Novoseek inferred chemical compound relationships for SLC22A5 gene (see all 15)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine 92.8 236 14506273 (7), 12183691 (5), 16931768 (5), 10454528 (4) (see all 77)
    moxa 75.9 2 15028572 (1), 11414662 (1)
    tetraethylammonium 62.2 4 9685390 (1), 12183691 (1), 16931768 (1)
    cirazoline 59.4 2 15028572 (1), 11414662 (1)
    moxonidine 49.2 2 15028572 (1), 11414662 (1)
    verapamil 46.6 5 15486076 (1), 16490820 (1), 20208395 (1), 15028572 (1) (see all 5)
    valproate 36.3 2 12183691 (1)
    choline 30.6 1 17805461 (1)
    desipramine 23 2 15028572 (1), 11414662 (1)
    putrescine 22.6 1 15028572 (1)



    SLC22A5 for compounds           About GeneDecksing



    (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 SLC22A5 gene: 
    NM_003060.3  

    Unigene Cluster for SLC22A5:

    Solute carrier family 22 (organic cation/carnitine transporter), member 5
    Hs.443572  [show with all ESTs]
    Unigene Representative Sequence: AB209484
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000245407(uc003kww.4 uc003kwx.4) ENST00000437841 ENST00000415928
    ENST00000461013 ENST00000448810(uc010jdr.1) ENST00000479605 ENST00000447841
    ENST00000475308 ENST00000435065
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    Selected qRT-PCR Assays for microRNAs that regulate SLC22A5 (see all 31):
    hsa-miR-30c hsa-miR-302d hsa-miR-520e hsa-miR-495 hsa-miR-125a-3p hsa-miR-1271 hsa-miR-624* hsa-miR-302e
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      QuantiTect SYBR Green Assays in human, mouse, rat SLC22A5
      QuantiFast Probe-based Assays in human, mouse, rat SLC22A5

    Additional mRNA sequence: 

    AB015050.1 AB209484.1 AB291606.1 AF057164.1 AK128610.1 AK313230.1 AY429569.1 BC012325.1 

    9 DOTS entries:

    DT.211513  DT.91996328  DT.95126786  DT.99949350  DT.40197643  DT.422824  DT.100816288  DT.120834228 
    DT.91957266 

    Selected AceView cDNA sequences (see all 85):

    BM923840 AI364189 AK128610 BF198058 BM725111 BX107689 AI928500 AW241672 
    NM_003060 AI784126 BV184247 AI289728 BE732425 BG332869 BE501408 BQ636943 
    AI085479 AI905775 CB217109 AI288101 AI074257 BQ917893 BX421023 AF057164 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for SLC22A5 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for SLC22A5

    (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)
    About This Section

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    SLC22A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTGTGAA
    SLC22A5 Expression
    About this image


    SLC22A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Kidney (Urinary System)
             Renal proximal tubularlike cells
    SLC22A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SLC22A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.443572

    UniProtKB/Swiss-Prot: S22A5_HUMAN, O76082
    Tissue specificity: Strongly expressed in kidney, skeletal muscle, heart and placenta. 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

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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 eukaryotes.

    Orthologs for SLC22A5 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Slc22a51 , 5 solute carrier family 22 (organic cation transporter), member 5 less1, 5 86.71(n)1
    85.46(a)1
      11 (32.02 cM)5
    205201  NM_011396.31  NP_035526.11 
     538645425 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    30(a)
    many ↔ many
    6(7193399-7214239)
    lizard
    (Anolis carolinensis)
    Reptilia SLC22A56
    solute carrier family 22 (organic cation/carnitine...
    68(a)
    1 ↔ 1
    2(127844628-127882796)
    African clawed frog
    (Xenopus laevis)
    Amphibia slc22a5-prov2 solute carrier family 22 (organic cation transporter), member 5 less 76.6(n)    BC056014.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc660362 Slc22a5-prov protein 73.83(n)   393822  BC062384.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons 2-Oct1 2-Oct 43.65(n)
    34.26(a)
      844274  NM_106584.2  NP_178054.1 
    rice
    (Oryza sativa)
    Liliopsida Os07g05623001 Os07g0562300 46.75(n)
    33.59(a)
      4343602  NM_001066524.1  NP_001059989.1 


    ENSEMBL Gene Tree for SLC22A5 (if available)
    TreeFam Gene Tree for SLC22A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SLC22A5 gene
    SLC22A112  SLC22A82  SLC22A12  SLC22A242  SLC22A42  SLC22A22  SLC22A102  SLC22A132  
    SLC22A92  SLC22A62  SLC22A152  SLC22A122  SLC22A72  SLC22A162  SLC22A32  SLC22A252  
    13 SIMAP similar genes for SLC22A5 using alignment to 5 protein entries:     S22A5_HUMAN (see all proteins):
    SLC22A4    SLC22A15    SLC22A2    SLC22A3    SLC22A8    SLC22A1
    SLC22A16    SLC22A7    SLC22A13    SLC22A11    SLC22A6    SLC22A10
    SLC22A20

    SLC22A5 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), 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 SLC22A5 (see all 762)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1392033631,2,,4
    C,FSystemic primary carnitine deficiency (CDSP)4 other1131981550(+) TCCTGG/AGCGAG 2 /S /G mis12Minor allele frequency- A:0.00NA EU 5563
    rs1855513861,2,,4
    CSystemic primary carnitine deficiency (CDSP)4 --131996902(+) AGTTCA/GTATAA 2 H R mis10--------
    rs1142694821,2,,4
    CSystemic primary carnitine deficiency (CDSP)4 pathogenic1131996917(+) CTCTAC/TGTTAG 2 T M mis10--------
    rs115685141,2,,4
    C,F,HSystemic primary carnitine deficiency (CDSP)4 pathogenic1132004052(+) ACGTGT/GACACA 2 /D /Y mis1 ese38Minor allele frequency- G:0.00NS EA NA 5296
    rs603766241,2,,4
    CSystemic primary carnitine deficiency (CDSP)4 pathogenic1132004107(+) CAGCTC/GCACAG 2 S C mis11Minor allele frequency- G:0.00--356
    rs283834811,2,,4
    C,F,HSystemic primary carnitine deficiency (CDSP)4 pathogenic1132005231(+) CGACCG/ACTTCC 2 /H /R mis1 ese34Minor allele frequency- A:0.01NS NA EU 6053
    VAR_0092574
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0092572 P L mis40--------
    VAR_0668434
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0668432 S N mis40--------
    VAR_0641354
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0641352 A D mis40--------
    VAR_0641484
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0641482 P R mis40--------

    HapMap Linkage Disequilibrium report for SLC22A5 (131705401 - 131731306 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for SLC22A5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv882898CNV Loss21882294
    nsv882903CNV Loss21882294
    dgv6328n71CNV Loss21882294
    nsv882902CNV Loss21882294

    Human Gene Mutation Database (HGMD): SLC22A5
    Locus Specific Mutation Databases (LSDB): SLC22A5

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SLC22A5
    DNA2.0 Custom Variant and Variant Library Synthesis for SLC22A5

    (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.)
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    OMIM gene information: 603377   
    OMIM disorders: 212140  
    UniProtKB/Swiss-Prot: S22A5_HUMAN, O76082
  • Systemic primary carnitine deficiency (CDSP) [MIM:212140]: Autosomal recessive disorder of fatty acid
    oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute
    metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for SLC22A5 (see all 45):    
    About MalaCards
    systemic primary carnitine deficiency disease    visceral steatosis    holocarboxylase synthetase deficiency    neutral lipid storage disease
    placental choriocarcinoma    lipid storage disease    crohn's disease    hypoglycemia
    reye syndrome    sclerosing cholangitis    primary sclerosing cholangitis    sudden infant death syndrome
    cholangitis    ulcerative colitis    inflammatory bowel disease    myopathy
    psoriatic arthritis    choriocarcinoma    barrett's esophagus    peripheral neuropathy

    4 diseases from the University of Copenhagen DISEASES database for SLC22A5:
    Systemic primary carnitine deficiency disease     Crohn's disease     Ulcerative colitis     Neutral lipid storage disease

    SLC22A5 for disorders           About GeneDecksing

    8 Novoseek inferred disease relationships for SLC22A5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnitine deficiency, primary 97 24 12204000 (2), 12408185 (2), 20027113 (1), 10559218 (1) (see all 16)
    visceral steatosis 87 6 16734862 (2), 16754783 (1), 12510384 (1), 9837751 (1)
    cardiomyopathy 55 4 12210323 (1), 18337137 (1), 15125318 (1), 15487009 (1)
    inflammatory bowel diseases 45 3 16519742 (1), 20477602 (1)
    sudden infant death syndrome 20.6 1 15487009 (1)
    rheumatoid arthritis 15 1 16796743 (1)
    psoriasis 12.7 1 20031577 (1)
    genetic susceptibility 1.25 1 16333318 (1)

    Genetic Association Database (GAD): SLC22A5
    Human Genome Epidemiology (HuGE) Navigator: SLC22A5 (65 documents)

    Export disorders for SLC22A5 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 SLC22A5 gene, integrated from 10 sources (see all 216):
    (articles sorted by number of sources associating them with SLC22A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. (PubMed id 9618255)1, 2, 3, 7 Wu X.... Ganapathy V. (Biochem. Biophys. Res. Commun. 1998)
    2. Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. (PubMed id 10454528)1, 2, 7, 9 Wu X.... Ganapathy V. (J. Pharmacol. Exp. Ther. 1999)
    3. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. (PubMed id 9685390)1, 2, 3, 9 Tamai I....Tsuji A. (J. Biol. Chem. 1998)
    4. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. (PubMed id 15714519)1, 2, 4, 9 Dobrowolski S.F.... Longo N. (Hum. Mutat. 2005)
    5. Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. (PubMed id 9916797)1, 2, 3 Nezu J....Tsuji A. (Nat. Genet. 1999)
    6. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). (PubMed id 16931768)1, 2, 9 Urban T.J.... Giacomini K.M. (Mol. Pharmacol. 2006)
    7. 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. (J. Pharmacol. Exp. Ther. 2009)
    8. OCTN2VT, a splice variant of OCTN2, does not transport carnitine because of the retention in the endoplasmic reticulum caused by insertion of 24 amino acids in the first extracellular loop of OCTN2. (PubMed id 17509700)1, 2, 9 Maekawa S.... Miwa S. (Biochim. Biophys. Acta 2007)
    9. Mutations in novel organic cation transporter (OCTN2), an organic cation/carnitine transporter, with differential effects on the organic cation transport function and the carnitine transport function. (PubMed id 10559218)1, 2, 9 Seth P.... Ganapathy V. (J. Biol. Chem. 1999)
    10. Transport of ipratropium, an anti-chronic obstructive pulmonary disease drug, is mediated by organic cation/carnitine transporters in human bronchial epithelial cells: implications for carrier-mediated pulmonary absorption. (PubMed id 20020740)1, 7, 9 Nakamura T....Tamai I. (Mol. Pharm. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6584 HGNC: 10969 AceView: SLC22A5 Ensembl:ENSG00000197375 euGenes: HUgn6584
    ECgene: SLC22A5 H-InvDB: SLC22A5

    (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 SLC22A5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SLC22A5[genesymbol]
    The SLC22A5 databasehttp://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SLC22A5 gene:
    Search GeneIP for patents involving SLC22A5

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



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