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    SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5 [ Homo sapiens (human) ]

    Gene ID: 6584, updated on 7-Feb-2016
    Official Symbol
    SLC22A5provided by HGNC
    Official Full Name
    solute carrier family 22 (organic cation/carnitine transporter), member 5provided by HGNC
    Primary source
    HGNC:HGNC:10969
    See related
    Ensembl:ENSG00000197375; HPRD:04539; MIM:603377; Vega:OTTHUMG00000059634
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CDSP; OCTN2
    Summary
    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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]
    Orthologs
    See SLC22A5 in Epigenomics, MapViewer
    Location:
    5q23.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 5 NC_000005.10 (132369704..132395614)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131705396..131731306)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene solute carrier family 22 (organic cation/zwitterion transporter), member 4 Neighboring gene uncharacterized LOC553103 Neighboring gene microRNA 3936 Neighboring gene uncharacterized LOC102723741 Neighboring gene chromosome 5 open reading frame 56 Neighboring gene uncharacterized LOC105379175

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Renal carnitine transport defect Compare labs

    NHGRI GWAS Catalog

    Description
    A large-scale, consortium-based genomewide association study of asthma.
    NHGRI GWA Catalog
    An atlas of genetic influences on human blood metabolites.
    NHGRI GWA Catalog
    Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium.
    NHGRI GWA Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    NHGRI GWA Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    NHGRI GWA Catalog
    Hundreds of variants clustered in genomic loci and biological pathways affect human height.
    NHGRI GWA Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    NHGRI GWA Catalog
    Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ46769

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    carnitine transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    carnitine transmembrane transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cation:cation antiporter activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    drug transmembrane transporter activity IC
    Inferred by Curator
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    quaternary ammonium group transmembrane transporter activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    symporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    carnitine metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    carnitine transmembrane transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    carnitine transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    carnitine transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    carnitine transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cation transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    drug transmembrane transport IC
    Inferred by Curator
    more info
    PubMed 
    drug transport IC
    Inferred by Curator
    more info
    PubMed 
    positive regulation of intestinal epithelial structure maintenance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    quaternary ammonium group transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    quorum sensing involved in interaction with host IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sodium ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    sodium-dependent organic cation transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    apical plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    brush border membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    brush border membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    plasma membrane IC
    Inferred by Curator
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    solute carrier family 22 member 5
    Names
    high-affinity sodium dependent carnitine cotransporter
    organic cation/carnitine transporter 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008982.1 RefSeqGene

      Range
      5001..30906
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001308122.1NP_001295051.1  solute carrier family 22 member 5 isoform a

      See identical proteins and their annotated locations for NP_001295051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1, also known as OCTN2VT) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AB291606, AK128610, BM693015, DA567722
      Consensus CDS
      CCDS78058.1
      UniProtKB/Swiss-Prot
      O76082
      Conserved Domains (2) summary
      cd06174
      Location:162534
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00898
      Location:12544
      2A0119; cation transport protein
    2. NM_003060.3NP_003051.1  solute carrier family 22 member 5 isoform b

      See identical proteins and their annotated locations for NP_003051.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1, resulting in an isoform (b) that is shorter than isoform a.
      Source sequence(s)
      AF057164, AK128610, BC012325, DA186237, DA567722
      Consensus CDS
      CCDS4154.1
      UniProtKB/Swiss-Prot
      O76082
      Related
      ENSP00000245407, OTTHUMP00000065961, ENST00000245407, OTTHUMT00000132631
      Conserved Domains (2) summary
      cd06174
      Location:123510
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00898
      Location:12520
      2A0119; cation transport protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p2 Primary Assembly

      Range
      132369704..132395614
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005272055.2XP_005272112.1  

      Conserved Domains (2) summary
      cd06174
      Location:162534
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...
      TIGR00898
      Location:12544
      2A0119; cation transport protein
    2. XM_011543590.1XP_011541892.1  

      Conserved Domains (1) summary
      cd06174
      Location:132304
      MFS; The Major Facilitator Superfamily (MFS) is a large and diverse group of secondary transporters that includes uniporters, symporters, and antiporters. MFS proteins facilitate the transport across cytoplasmic or internal membranes of a variety of ...

    RNA

    1. XR_948290.1 RNA Sequence

    2. XR_427718.1 RNA Sequence

    3. XR_948291.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018916.2 Alternate CHM1_1.1

      Range
      131138142..131164051
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)