About   Help   FAQ
Slc22a5
Gene Detail
 Symbol
Name
ID
Slc22a5
solute carrier family 22 (organic cation transporter), member 5
MGI:1329012
Synonyms Lstpl, Octn2
Feature Type protein coding gene
Genetic Map
Chromosome 11
32.02 cM
Detailed Genetic Map ± 1 cM


Mapping data(8)
Sequence Map
Chr11:53864542-53891660 bp, - strand
From VEGA annotation of GRCm38

  27119 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:68295  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 3 western clawed frog; 1 zebrafish

Gene Tree: Slc22a5

Human
homologs
Human Homolog SLC22A5, solute carrier family 22 (organic cation/carnitine transporter), member 5
NCBI Gene ID 6584
neXtProt AC  NX_O76082
Human Synonyms  CDSP, OCTN2, OCTN2VT
Human Chr (Location)  5q23.3; chr5:132369704-132395614 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SLC22A5
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Spontaneous(1) Targeted(3)
Genomic Mutations involving Slc22a5 (1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a spontaneous missense mutation exhibit systemic carnitine deficiency, cardiac hypertrophy, impaired Na-dependent carnitine transport, fatty liver, hypoglycemia, high postnatal mortality, and male infertility.
 
Human Diseases Modeled Using Mouse Slc22a5 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Slc22a5 interacts with 212 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (51 annotations)
Process adult heart development, amino acid transmembrane transport, ...
Component apical plasma membrane, basolateral plasma membrane, ...
Function antibiotic transporter activity, ATP binding, ...
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (33)    Tissues (23)    Images (4)
Theiler Stages: 10, 18, 23, 25, 28
Assay TypeResults
RNA in situ 12
Western blot 7
RT-PCR 14
cDNA source data(62)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(73) Genomic(6) cDNA(62) Primer pair(4) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000005649 (Evidence)
Ensembl Gene ModelENSMUSG00000018900 (Evidence)
Entrez Gene20520 (Evidence)
UniGene42253
DFCITC1578426
DoTSDT.486103
Consensus CDS ProjectCCDS24687.1
International Mouse Knockout Project StatusSlc22a5
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000005649 VEGA Gene Model | MGI Sequence Detail 27119 C57BL/6J ±  kb
transcript OTTMUST00000012569 VEGA | MGI Sequence Detail 3062 Not Applicable 
polypeptide OTTMUSP00000005825 VEGA | MGI Sequence Detail 557 Not Applicable 

For the selected sequences
All sequences(46) RefSeq(10) UniProt(5)
Polymorphisms PCR(1) : SNPs within 2kb(350 from dbSNP Build 137)    SNPs within 2kb including multiple locations(616)
Protein-related
information
ResourceIDDescription
InterPro IPR005828 General substrate transporter
InterPro IPR020846 Major facilitator superfamily domain
InterPro IPR016196 Major facilitator superfamily domain, general substrate transporter
InterPro IPR004749 Organic cation transport protein
InterPro IPR005829 Sugar transporter, conserved site
Protein Ontology PR:000014992 solute carrier family 22 member 5
References (Earliest) J:31026 Koizumi T, et al., Infantile disease with microvesicular fatty infiltration of viscera spontaneously occurring in the C3H-H-2(0) strain of mouse with similarities to Reye's syndrome. Lab Anim. 1988 Jan;22(1):83-7
(Latest) J:192299 Sonne S, et al., Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response. PLoS One. 2012;7(10):e47729
All references(82)
Disease annotation references (8)
Other
accession IDs
MGD-MRK-11546, MGI:894333, MGI:96652

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
09/23/2014
MGI 5.19
The Jackson Laboratory