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Slc22a5 solute carrier family 22 (organic cation transporter), member 5 [ Mus musculus (house mouse) ]

Gene ID: 20520, updated on 1-Mar-2024

Summary

Official Symbol
Slc22a5provided by MGI
Official Full Name
solute carrier family 22 (organic cation transporter), member 5provided by MGI
Primary source
MGI:MGI:1329012
See related
Ensembl:ENSMUSG00000018900 AllianceGenome:MGI:1329012
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
jvs; Lstpl; Octn2
Summary
Enables (R)-carnitine transmembrane transporter activity. Involved in (R)-carnitine transmembrane transport and transport across blood-brain barrier. Acts upstream of or within several processes, including adult heart development; carnitine metabolic process; and carnitine transport. Located in brush border membrane. Is expressed in several structures, including liver; metanephros; nasal cavity mucosa; spleen; and testis. Used to study systemic primary carnitine deficiency disease. Human ortholog(s) of this gene implicated in Crohn's disease; cardiomyopathy; inherited metabolic disorder; and systemic primary carnitine deficiency disease. Orthologous to human SLC22A5 (solute carrier family 22 member 5). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in kidney adult (RPKM 72.8), placenta adult (RPKM 29.8) and 24 other tissues See more
Orthologs
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Genomic context

See Slc22a5 in Genome Data Viewer
Location:
11 B1.3; 11 32.02 cM
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (53755368..53782609, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (53864542..53891796, complement)

Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E10675 Neighboring gene interferon regulatory factor 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:53608789-53608996 Neighboring gene STARR-seq mESC enhancer starr_29497 Neighboring gene predicted gene 12216 Neighboring gene CapStarr-seq enhancer MGSCv37_chr11:53659189-53659448 Neighboring gene predicted gene, 30785 Neighboring gene STARR-positive B cell enhancer mm9_chr11:53705301-53705602 Neighboring gene STARR-seq mESC enhancer starr_29501 Neighboring gene solute carrier family 22 (organic cation transporter), member 4 pseudogene Neighboring gene solute carrier family 22 (organic cation transporter), member 21 Neighboring gene predicted gene 12219

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1) 
  • Endonuclease-mediated (4) 

Pathways from PubChem

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables (R)-carnitine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables (R)-carnitine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables (R)-carnitine transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables ATP binding IEA
Inferred from Electronic Annotation
more info
 
enables PDZ domain binding ISO
Inferred from Sequence Orthology
more info
 
enables amino-acid betaine transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables carnitine transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables carnitine transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables carnitine transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables nucleotide binding IEA
Inferred from Electronic Annotation
more info
 
enables quaternary ammonium group transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
 
enables quaternary ammonium group transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
enables quaternary ammonium group transmembrane transporter activity ISO
Inferred from Sequence Orthology
more info
 
enables symporter activity IEA
Inferred from Electronic Annotation
more info
 
enables transmembrane transporter activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
involved_in (R)-carnitine transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in (R)-carnitine transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in (R)-carnitine transmembrane transport ISO
Inferred from Sequence Orthology
more info
 
involved_in (R)-carnitine transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in (R)-carnitine transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within adult heart development IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within carnitine metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within carnitine transport IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within carnitine transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in carnitine transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within establishment of localization in cell IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of intestinal epithelial structure maintenance ISO
Inferred from Sequence Orthology
more info
 
involved_in quaternary ammonium group transport IBA
Inferred from Biological aspect of Ancestor
more info
 
acts_upstream_of_or_within quaternary ammonium group transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in quaternary ammonium group transport ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within reproductive structure development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to symbiotic bacterium ISO
Inferred from Sequence Orthology
more info
 
involved_in response to tumor necrosis factor IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to tumor necrosis factor ISO
Inferred from Sequence Orthology
more info
 
involved_in response to type II interferon IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to type II interferon ISO
Inferred from Sequence Orthology
more info
 
acts_upstream_of_or_within sodium ion transport IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium-dependent organic cation transport ISO
Inferred from Sequence Orthology
more info
 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
involved_in transport across blood-brain barrier IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in apical plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in apical plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in basal plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in basolateral plasma membrane ISO
Inferred from Sequence Orthology
more info
 
located_in brush border membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in brush border membrane ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
 
located_in membrane IC
Inferred by Curator
more info
PubMed 
located_in plasma membrane ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
organic cation/carnitine transporter 2
Names
high-affinity sodium-dependent carnitine cotransporter
juvenile visceral steatosis
solute carrier family 22 member 5

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

  1. NM_001362711.2NP_001349640.1  organic cation/carnitine transporter 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596182
    Conserved Domains (1) summary
    TIGR00898
    Location:1277
    2A0119; cation transport protein
  2. NM_001362712.2NP_001349641.1  organic cation/carnitine transporter 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596182
    Conserved Domains (1) summary
    TIGR00898
    Location:1277
    2A0119; cation transport protein
  3. NM_001425415.1NP_001412344.1  organic cation/carnitine transporter 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL596182
    UniProtKB/TrEMBL
    Q3USA0
  4. NM_001425416.1NP_001412345.1  organic cation/carnitine transporter 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL596182
  5. NM_001425417.1NP_001412346.1  organic cation/carnitine transporter 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AL596182
  6. NM_001425418.1NP_001412347.1  organic cation/carnitine transporter 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AL596182
  7. NM_001425419.1NP_001412348.1  organic cation/carnitine transporter 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596182
  8. NM_001425420.1NP_001412349.1  organic cation/carnitine transporter 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596182
  9. NM_001425421.1NP_001412350.1  organic cation/carnitine transporter 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596182
  10. NM_001425422.1NP_001412351.1  organic cation/carnitine transporter 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL596182
  11. NM_001425423.1NP_001412352.1  organic cation/carnitine transporter 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AL596182
  12. NM_011396.4NP_035526.1  organic cation/carnitine transporter 2 isoform 1

    See identical proteins and their annotated locations for NP_035526.1

    Status: VALIDATED

    Source sequence(s)
    AL596182
    Consensus CDS
    CCDS24687.1
    UniProtKB/Swiss-Prot
    Q9Z0E8
    UniProtKB/TrEMBL
    Q3USA0, Q5SX17
    Related
    ENSMUSP00000019044.8, ENSMUST00000019044.8
    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: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    53755368..53782609 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006532650.4XP_006532713.1  organic cation/carnitine transporter 2 isoform X1

    UniProtKB/TrEMBL
    Q3USA0
    Conserved Domains (1) summary
    TIGR00898
    Location:12492
    2A0119; cation transport protein