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; 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; chr5:131705401-131731306 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SLC22A5

Alleles and phenotypes

All alleles(4) : Targeted(2) Gene trapped(1) Spontaneous(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (46 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: (4 records)
Data Summary: Results (22)    Tissues (13)    Images (3)
Theiler Stages: 10, 18, 23, 25, 28

Assay Type	Results
RNA in situ	1
Western blot	7
RT-PCR	14

cDNA source data(61)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(72) Genomic(6) cDNA(61) 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 Knockout Project Status	Slc22a5

Sequences

Length	Strain/Species
genomic	OTTMUSG00000005649	VEGA Gene Model | MGI Sequence Detail	27119	C57BL/6J
transcript	OTTMUST00000012569	VEGA | MGI Sequence Detail	3062	Not Applicable
polypeptide	OTTMUSP00000005825	VEGA | MGI Sequence Detail	557	Not Applicable

All sequences(38) RefSeq(2) UniProt(5)

Polymorphisms

PCR(1) : SNPs(224 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(81)

Other accession IDs

MGD-MRK-11546, MGI:894333, MGI:96652