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

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: human all
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Genomic context

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_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

PGC-1alpha and MEF2 Regulate the Transcription of the Carnitine Transporter OCTN2 Gene in C2C12 Cells and in Mouse Skeletal Muscle.
Title: PGC-1α and MEF2 Regulate the Transcription of the Carnitine Transporter OCTN2 Gene in C2C12 Cells and in Mouse Skeletal Muscle.
Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse.
Title: Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse.
Dystrophin deficiency likely disrupts Octn2 expression decreasing muscle carnitine uptake thus contributing to membranotoxic long-chain acyl-CoAs with sarcolemmal and organellar membrane oxidative injury
Title: Expression of the organic cation/carnitine transporter family (Octn1,-2 and-3) in mdx muscle and heart: Implications for early carnitine therapy in Duchenne muscular dystrophy to improve cellular carnitine homeostasis.
l-carnitine deficiency due to a defect in the carnitine transporter OCTN2 (SLC22A5) in a mouse model leads to embryonic lethality. Placental levels of l-carnitine are reduced to <10% of normal and deficiency of l-carnitine is associated with markedly reduced expression of several growth factors and transforming growth factor beta (TGF-beta) genes.
Title: Embryonic lethality in mice due to carnitine transporter OCTN2 defect and placental carnitine deficiency.
Acute and chronic administration of clozapine to mice resulted in 2-3-fold greater renal excretion of L-carnitine (L-Car) than in the vehicle group. Concomitantly, mRNA and protein levels of mOctn2 in the kidney were markedly down regulated. These results indicate that clozapine-induced reduction of L-Car reabsorption via inhibition/down-regulation of renal Octn2 contributes to liver lipid metabolic disorder.
Title: Clozapine-induced reduction of l-carnitine reabsorption via inhibition/down-regulation of renal carnitine/organic cation transporter 2 contributes to liver lipid metabolic disorder in mice.
Both mRNA and protein levels of OCTN2 were detected in kidney after exercise and during recovery, suggesting renal transport mechanisms were stimulated. These changes were accompanied with a reciprocal increase in PPARalpha protein expression.
Title: Acute Exercise Stimulates Carnitine Biosynthesis and OCTN2 Expression in Mouse Kidney.
There was increased apoptosis in gut samples from OCTN2(-/-) mice.
Title: Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response.
Colon OCTN2 gene expression is up-regulated by peroxisome proliferator-activated receptor gamma in humans and mice and contributes to local and systemic carnitine homeostasis.
Title: Colon OCTN2 gene expression is up-regulated by peroxisome proliferator-activated receptor gamma in humans and mice and contributes to local and systemic carnitine homeostasis.
OCTN2, a transporter that is thought to be responsible for the accumulation of L-carnitine in the epididymal lumen, is regulated in response to changes in tonicity.
Title: Organic cation/carnitine transporter, OCTN2, transcriptional activity is regulated by osmotic stress in epididymal cells.
Mouse OCTN2 is a direct target gene of PPARalpha and transcriptional upregulation of OCTN2 by PPARalpha is likely mediated via PPRE1 in its first intron.
Title: Mouse OCTN2 is directly regulated by peroxisome proliferator-activated receptor alpha (PPARalpha) via a PPRE located in the first intron.

Submit: New GeneRIF Correction See all GeneRIFs (22)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1)
Endonuclease-mediated (4)

General gene information

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Markers

Slc22a5 (e-PCR), detects polymorphism
- UniSTS:463372

NoName (e-PCR)
- UniSTS:236575

NoName (e-PCR)
- UniSTS:236576

AU047818 (e-PCR)
- UniSTS:110144

Slc22a5 (e-PCR), detects polymorphism
- UniSTS:209592

Slc22a5 (e-PCR), detects polymorphism
- UniSTS:545991

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

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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)

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

Status: VALIDATED

Source sequence(s)

AL596182

Conserved Domains (1) summary

TIGR00898
Location:1 → 277

2A0119; cation transport protein
NM_001362712.2 → NP_001349641.1 organic cation/carnitine transporter 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL596182

Conserved Domains (1) summary

TIGR00898
Location:1 → 277

2A0119; cation transport protein
NM_001425415.1 → NP_001412344.1 organic cation/carnitine transporter 2 isoform 3

Status: VALIDATED

Source sequence(s)

AL596182
NM_001425416.1 → NP_001412345.1 organic cation/carnitine transporter 2 isoform 4

Status: VALIDATED

Source sequence(s)

AL596182
NM_001425417.1 → NP_001412346.1 organic cation/carnitine transporter 2 isoform 5

Status: VALIDATED

Source sequence(s)

AL596182
NM_001425418.1 → NP_001412347.1 organic cation/carnitine transporter 2 isoform 6

Status: VALIDATED

Source sequence(s)

AL596182
NM_001425419.1 → NP_001412348.1 organic cation/carnitine transporter 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL596182
NM_001425420.1 → NP_001412349.1 organic cation/carnitine transporter 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL596182
NM_001425421.1 → NP_001412350.1 organic cation/carnitine transporter 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL596182
NM_001425422.1 → NP_001412351.1 organic cation/carnitine transporter 2 isoform 2

Status: VALIDATED

Source sequence(s)

AL596182
NM_001425423.1 → NP_001412352.1 organic cation/carnitine transporter 2 isoform 7

Status: VALIDATED

Source sequence(s)

AL596182
NM_011396.4 → NP_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:123 → 510

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:12 → 520

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

NC_000077.7 Reference GRCm39 C57BL/6J

Range

53755368..53782609 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

Q3USA0

Conserved Domains (1) summary

TIGR00898
Location:12 → 492

2A0119; cation transport protein