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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

HCOP human homology predictions: SLC22A5
Gene Tree: Slc22a5

Human
homologs
SLC22A5, solute carrier family 22 (organic cation/carnitine transporter), member 5
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 6584
neXtProt AC: NX_O76082

Human Synonyms: CDSP, OCTN2

Human Chr (Location): 5q23.3; chr5:132369704-132395614 (+)  GRCh38.p2

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 , CvDC )
 
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 in Mice Using Slc22a5 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Slc22a5 interacts with 212 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (52 annotations)
Process adult heart development, antibiotic 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: (6 records)
Data Summary: Results (33)    Tissues (23)    Images (4)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 12
Western blot 7
RT-PCR 14
cDNA source data(62)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase LOC100486941 ; ZFIN slc22a5    NEW 
Molecular
reagents
All nucleic(73) Genomic(6) cDNA(62) Primer pair(4) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000005649 (Evidence)
Ensembl Gene Model ENSMUSG00000018900 (Evidence)
Entrez Gene 20520 (Evidence)
UniGene 42253
DFCI TC1578426
DoTS DT.486103
Consensus CDS Project CCDS24687.1
International Mouse Phenotyping Consortium Status Slc22a5
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 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:218247 Cossette SM, et al., Sucrose non-fermenting related kinase enzyme is essential for cardiac metabolism. Biol Open. 2014;4(1):48-61
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
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Funding Information
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last database update
07/21/2015
MGI 5.22
The Jackson Laboratory