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

SLC22A5 Gene

protein-coding   GIFtS: 65
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)
About This Section

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

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 visceral steatosis, and placental choriocarcinoma, 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 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NT_034772.6  NC_018916.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SLC22A5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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)
Subcellular location: Membrane; Multi-pass membrane protein
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O76082

  • SLC22A5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SLC22A5 Protein Expression
    REFSEQ proteins: NP_003051.1  
    ENSEMBL proteins: 
     ENSP00000245407   ENSP00000400553   ENSP00000388838   ENSP00000401860   ENSP00000389284  
     ENSP00000402760  
    Reactome Protein details: O76082
    Human Recombinant Protein Products for SLC22A5: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

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

    SLC22A5 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 2 
    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 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,
    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: 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): 5/10 molecular function terms (GO ID links to tree view) (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  homeostasis/metabolism  liver/biliary system  mortality/aging 
     renal/urinary system  reproductive system 

    SLC22A5 for phenotypes           About GeneDecksing

    Animal Models:
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SLC22A5 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSLC22A5 3' UTR sequence
    Inhib. RNA
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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 SLC22A5 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 SLC22A5
        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



    SLC22A5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SLC22A5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/6 Interacting proteins for SLC22A5 (O760823 ENSP000002454074) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    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): 5/11 biological process terms (GO ID links to tree view) (see all 11):    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 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

    SLC22A5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/53 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

    10/15 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)

    Search CenterWatch for drugs/clinical trials and news about SLC22A5 / S22A5

    (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 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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    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 

    24/85 AceView cDNA sequences (see all 85):

    BF198058 BM923840 AK128610 AI364189 AI928500 AI784126 AW241672 NM_003060 
    BM725111 BX107689 AW192506 BG723644 AF057164 BQ917893 AI074257 AI288101 
    AI088838 AY429569 BV184247 BI547770 BQ636943 AI220553 AA917874 BX109251 

    GeneLoc Exon Structure

    5/6 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™, 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

    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


    See SLC22A5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SLC22A5

    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

        SABiosciences Expression via Pathway-Focused PCR Arrays including SLC22A5: 
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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 SLC22A5 gene from 7/16 species (see all 16)    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), more1, 5 86.71(n)1
    85.46(a)1
      11 (32.02 cM)5
    205201  NM_011396.31  NP_035526.11 
     538645425 
    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), more 76.6(n)    BC056014.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc660362 Slc22a5-prov protein 73.83(n)   393822  BC062384.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Orct3 carnitine transporter 35(a)
    (best of 21)
      95F8   --
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons 2-Oct1 organic cation/carnitine transporter 2 43.27(n)
    33.58(a)
      844274  NM_106584.2  NP_178054.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g03305001 hypothetical protein 44.12(n)
    31.71(a)
      9271394  NM_001185382.1  NP_001172311.1 


    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)
    About This Section
    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) 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

    10/762 SNPs in SLC22A5 are shown (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
    ----------
    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--------
    VAR_0641164
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0641162 R L mis40--------
    VAR_0641464
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0641462 F V mis40--------
    VAR_0668444
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0668442 S F mis40--------
    VAR_0641314
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0641312 G V mis40--------
    VAR_0641184
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0641182 D Y mis40--------
    VAR_0203474
    Systemic primary carnitine deficiency (CDSP)4--see VAR_0203472 F L 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
    SABiosciences Cancer Mutation PCR Assays
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    (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: 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

  • 20/42 diseases for SLC22A5 (see all 42):    About MalaCards
    visceral steatosis    placental choriocarcinoma    holocarboxylase synthetase deficiency    primary sclerosing cholangitis
    crohn's disease    ulcerative colitis    sclerosing cholangitis    reye syndrome
    hypoglycemia    sudden infant death syndrome    cholangitis    inflammatory bowel disease
    myopathy    psoriatic arthritis    choriocarcinoma    hypertrophic cardiomyopathy
    barrett's esophagus    primary biliary cirrhosis    peripheral neuropathy    epididymitis

    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)
    About This Section

    PubMed articles for SLC22A5 gene, integrated from 9 sources (see all 214):
    (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. (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. (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. (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. (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. (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. (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. (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. (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. (1999)
    10. 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)

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

      Query String
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    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: 6584 HGNC: 10969 AceView: SLC22A5 Ensembl:ENSG00000197375 euGenes: HUgn6584
    ECgene: SLC22A5 H-InvDB: SLC22A5

    (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 SLC22A5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SLC22A5
    The SLC22A5 databasehttp://www.arup.utah.edu/database/OCTN2/OCTN2_welcome.php

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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