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Aliases for SLC22A5 Gene

Aliases for SLC22A5 Gene

  • Solute Carrier Family 22 (Organic Cation/Carnitine Transporter), Member 5 2 3
  • OCTN2 3 4 6
  • Organic Cation/Carnitine Transporter 2 3 4
  • CDSP 3 6
  • High-Affinity Sodium Dependent Carnitine Cotransporter 3
  • High-Affinity Sodium-Dependent Carnitine Cotransporter 4
  • Solute Carrier Family 22 Member 5 3
  • OCTN2VT 3
  • SCD 6

External Ids for SLC22A5 Gene

Previous Symbols for SLC22A5 Gene

  • CDSP

Summaries for SLC22A5 Gene

Entrez Gene Summary for SLC22A5 Gene

  • Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is a plasma integral membrane protein which functions both as an organic cation transporter and as a sodium-dependent high affinity carnitine transporter. The encoded protein is involved in the active cellular uptake of carnitine. Mutations in this gene are the cause of systemic primary carnitine deficiency (CDSP), an autosomal recessive disorder manifested early in life by hypoketotic hypoglycemia and acute metabolic decompensation, and later in life by skeletal myopathy or cardiomyopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for SLC22A5 Gene

SLC22A5 (Solute Carrier Family 22 (Organic Cation/Carnitine Transporter), Member 5) is a Protein Coding gene. Diseases associated with SLC22A5 include visceral steatosis and carnitine deficiency, systemic primary. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Glucose / Energy Metabolism. GO annotations related to this gene include PDZ domain binding and drug transmembrane transporter activity. An important paralog of this gene is SLC22A12.

UniProtKB/Swiss-Prot for SLC22A5 Gene

  • Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.

Gene Wiki entry for SLC22A5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SLC22A5 Gene

Genomics for SLC22A5 Gene

Genomic Location for SLC22A5 Gene

Start:
132,369,704 bp from pter
End:
132,395,614 bp from pter
Size:
25,911 bases
Orientation:
Plus strand

Genomic View for SLC22A5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SLC22A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SLC22A5 Gene

Regulatory Elements for SLC22A5 Gene

Proteins for SLC22A5 Gene

  • Protein details for SLC22A5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O76082-S22A5_HUMAN
    Recommended name:
    Solute carrier family 22 member 5
    Protein Accession:
    O76082
    Secondary Accessions:
    • A2Q0V1
    • B2R844
    • D3DQ87
    • Q6ZQZ8
    • Q96EH6

    Protein attributes for SLC22A5 Gene

    Size:
    557 amino acids
    Molecular mass:
    62752 Da
    Quaternary structure:
    • Interacts with PDZK1.
    Miscellaneous:
    • Inhibited by emetine, quinidine and verapamil. The IC(50) of emetine is 4.2 uM. Not inhibited by valproic acid

    Alternative splice isoforms for SLC22A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC22A5 Gene

Proteomics data for SLC22A5 Gene at MOPED

Post-translational modifications for SLC22A5 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn57, Asn64, and Asn91

Other Protein References for SLC22A5 Gene

No data available for DME Specific Peptides for SLC22A5 Gene

Domains for SLC22A5 Gene

Gene Families for SLC22A5 Gene

Protein Domains for SLC22A5 Gene

UniProtKB/Swiss-Prot:

S22A5_HUMAN
Family:
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.:
    • O76082
genes like me logo Genes that share domains with SLC22A5: view

Function for SLC22A5 Gene

Molecular function for SLC22A5 Gene

GENATLAS Biochemistry: solute carrier family 22,member A5,63kDa,polyspecific transporter of organic cations,sodium ion dependent,high affinity carnitine transporter plasmalemmal,strongly expressed in kidney,skeletal muscle,heart,pancreas
UniProtKB/Swiss-Prot Function: Sodium-ion dependent, high affinity carnitine transporter. Involved in the active cellular uptake of carnitine. Transports one sodium ion with one molecule of carnitine. Also transports organic cations such as tetraethylammonium (TEA) without the involvement of sodium. Also relative uptake activity ratio of carnitine to TEA is 11.3.

Gene Ontology (GO) - Molecular Function for SLC22A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15523054
GO:0005524 ATP binding IEA --
GO:0015075 ion transmembrane transporter activity --
GO:0015226 carnitine transmembrane transporter activity IMP 9916797
GO:0015238 drug transmembrane transporter activity IC 15238359
genes like me logo Genes that share ontologies with SLC22A5: view
genes like me logo Genes that share phenotypes with SLC22A5: view

miRNA for SLC22A5 Gene

miRTarBase miRNAs that target SLC22A5

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for SLC22A5 Gene

Localization for SLC22A5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SLC22A5 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SLC22A5 Gene COMPARTMENTS Subcellular localization image for SLC22A5 gene
Compartment Confidence
plasma membrane 4
mitochondrion 1

Gene Ontology (GO) - Cellular Components for SLC22A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane IEA --
GO:0016323 basolateral plasma membrane IEA --
GO:0016324 apical plasma membrane IDA 17274673
GO:0031526 brush border membrane ISS 15523054
genes like me logo Genes that share ontologies with SLC22A5: view

Pathways for SLC22A5 Gene

genes like me logo Genes that share pathways with SLC22A5: view

Interacting Proteins for SLC22A5 Gene

Gene Ontology (GO) - Biological Process for SLC22A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006814 sodium ion transport IEA --
GO:0006855 drug transmembrane transport IC 15238359
GO:0015697 quaternary ammonium group transport IDA 9618255
GO:0015879 carnitine transport IMP 9916797
GO:0015893 drug transport IC 15238359
genes like me logo Genes that share ontologies with SLC22A5: view

Compounds for SLC22A5 Gene

(3) HMDB Compounds for SLC22A5 Gene

Compound Synonyms Cas Number PubMed IDs
L-Carnitine
  • (-)-(R)-3-Hydroxy-4-(trimethylammonio)butyrate
541-15-1
Sodium
  • Sodium
7440-23-5
Verapamil
  • Akilen
52-53-9

(54) Drugbank Compounds for SLC22A5 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Acetylcholine
51-84-3 transporter inhibitor
Aldosterone
  • (+)-aldosterone
52-39-1 transporter inhibitor
Aminohippurate
  • Aminohippurate Sodium
94-16-6 transporter inhibitor
Amphetamine
  • (+/-)-Benzedrine
300-62-9 transporter inhibitor
Ampicillin
  • Aminobenzylpenicillin
69-53-4 transporter inhibitor

(15) Novoseek inferred chemical compound relationships for SLC22A5 Gene

Compound -log(P) Hits PubMed IDs
carnitine 92.8 150
moxa 75.9 2
tetraethylammonium 62.2 3
cirazoline 59.4 2
moxonidine 49.2 2

(1) PharmGKB related drug/compound annotations for SLC22A5 Gene

Drug/compound Annotation
imatinib CA
genes like me logo Genes that share compounds with SLC22A5: view

Transcripts for SLC22A5 Gene

Unigene Clusters for SLC22A5 Gene

Solute carrier family 22 (organic cation/carnitine transporter), member 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SLC22A5 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b
SP1: - - -
SP2: - - -
SP3:
SP4: - -
SP5:
SP6: -

Relevant External Links for SLC22A5 Gene

GeneLoc Exon Structure for
SLC22A5
ECgene alternative splicing isoforms for
SLC22A5

Expression for SLC22A5 Gene

mRNA expression in normal human tissues for SLC22A5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SLC22A5 Gene

This gene is overexpressed in Muscle - Skeletal (7.5) and Kidney - Cortex (6.6).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for SLC22A5 Gene

SOURCE GeneReport for Unigene cluster for SLC22A5 Gene Hs.443572

mRNA Expression by UniProt/SwissProt for SLC22A5 Gene

O76082-S22A5_HUMAN
Tissue specificity: Strongly expressed in kidney, skeletal muscle, heart and placenta. Highly expressed in intestinal cell types affected by Crohn disease, including epithelial cells. Expressed in CD68 macrophage and CD43 T-cells but not in CD20 B-cells.
genes like me logo Genes that share expressions with SLC22A5: view

Orthologs for SLC22A5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC22A5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SLC22A5 36
  • 98.86 (n)
  • 98.74 (a)
cow
(Bos Taurus)
Mammalia SLC22A5 36
  • 90.9 (n)
  • 90.48 (a)
SLC22A5 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC22A5 36
  • 89.81 (n)
  • 90.47 (a)
SLC22A5 37
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc22a21 37
  • 77 (a)
OneToMany
Slc22a5 36
  • 86.71 (n)
  • 85.46 (a)
Slc22a5 16
Slc22a5 37
  • 85 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia SLC22A5 37
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC22A5 37
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Slc22a5 36
  • 86.54 (n)
  • 85.46 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SLC22A5 37
  • 68 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia slc22a5-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731319 36
  • 69.75 (n)
  • 72.51 (a)
MGC76054 36
zebrafish
(Danio rerio)
Actinopterygii slc22a21 37
  • 60 (a)
ManyToMany
slc22a4 36
  • 58.69 (n)
  • 49.54 (a)
slc22a4 37
  • 48 (a)
ManyToMany
slc22a5 37
  • 47 (a)
ManyToMany
zgc66036 36
fruit fly
(Drosophila melanogaster)
Insecta CG3790 38
  • 31 (a)
CG17751 38
  • 27 (a)
CG8654 38
  • 32 (a)
CG16727 38
  • 27 (a)
CG5592 38
  • 27 (a)
CG7458 38
  • 27 (a)
CG13610 38
  • 31 (a)
CG14855 38
  • 25 (a)
CG7084 38
  • 28 (a)
CG14857 38
  • 26 (a)
CG4630 38
  • 32 (a)
CG8925 38
  • 29 (a)
CG6126 38
  • 29 (a)
CG17752 38
  • 27 (a)
CG9317 38
  • 32 (a)
CG7442 38
  • 27 (a)
CG6231 38
  • 26 (a)
CG6356 38
  • 27 (a)
Orct 38
  • 35 (a)
CG6600 38
  • 29 (a)
CG7333 38
  • 26 (a)
worm
(Caenorhabditis elegans)
Secernentea F52F12.1a 38
  • 31 (a)
K05F1.6 38
  • 27 (a)
oct-1 38
  • 31 (a)
Y82E9BR.16 38
  • 26 (a)
ZK455.8a 38
  • 28 (a)
oat-1 38
  • 25 (a)
B0252.3 38
  • 26 (a)
ZK455.8b 38
  • 28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons 2-Oct 36
  • 43.65 (n)
  • 34.26 (a)
rice
(Oryza sativa)
Liliopsida Os07g0562300 36
  • 46.75 (n)
  • 33.59 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 30 (a)
ManyToMany
-- 37
  • 29 (a)
ManyToMany
-- 37
  • 30 (a)
ManyToMany
-- 37
  • 31 (a)
ManyToMany
Species with no ortholog for SLC22A5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SLC22A5 Gene

ENSEMBL:
Gene Tree for SLC22A5 (if available)
TreeFam:
Gene Tree for SLC22A5 (if available)

Paralogs for SLC22A5 Gene

genes like me logo Genes that share paralogs with SLC22A5: view

Variants for SLC22A5 Gene

Sequence variations from dbSNP and Humsavar for SLC22A5 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs14701 -- 132,395,231(+) TTTAA(A/C)ACAGA utr-variant-3-prime
rs166674 -- 132,374,691(-) GCTAG(A/C)TAGAG intron-variant
rs183898 -- 132,381,210(-) TTCCA(C/G)TTTCC intron-variant
rs200838 -- 132,374,707(-) AGGAT(G/T)ACAGG intron-variant
rs274547 -- 132,395,612(-) TGCTG(A/T)TATTT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SLC22A5 Gene

Variant ID Type Subtype PubMed ID
dgv6328n71 CNV Loss 21882294
nsv882898 CNV Loss 21882294
nsv882902 CNV Loss 21882294
nsv882903 CNV Loss 21882294

Relevant External Links for SLC22A5 Gene

HapMap Linkage Disequilibrium report
SLC22A5
Human Gene Mutation Database (HGMD)
SLC22A5
Locus Specific Mutation Databases (LSDB)
SLC22A5

Disorders for SLC22A5 Gene

(1) OMIM Diseases for SLC22A5 Gene (603377)

UniProtKB/Swiss-Prot

S22A5_HUMAN
  • Systemic primary carnitine deficiency (CDSP) [MIM:212140]: Autosomal recessive disorder of fatty acid oxidation caused by defective carnitine transport. Present early in life with hypoketotic hypoglycemia and acute metabolic decompensation, or later in life with skeletal myopathy or cardiomyopathy. {ECO:0000269 PubMed:10072434, ECO:0000269 PubMed:10425211, ECO:0000269 PubMed:10480371, ECO:0000269 PubMed:10545605, ECO:0000269 PubMed:10612840, ECO:0000269 PubMed:10679939, ECO:0000269 PubMed:11058897, ECO:0000269 PubMed:11715001, ECO:0000269 PubMed:15617188, ECO:0000269 PubMed:15714519, ECO:0000269 PubMed:17126586, ECO:0000269 PubMed:20027113, ECO:0000269 PubMed:20074989, ECO:0000269 PubMed:20574985, ECO:0000269 PubMed:21922592}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(8) Novoseek inferred disease relationships for SLC22A5 Gene

Disease -log(P) Hits PubMed IDs
carnitine deficiency, primary 97 18
visceral steatosis 87 5
cardiomyopathy 55 4
inflammatory bowel diseases 45 2
sudden infant death syndrome 20.6 1

Relevant External Links for SLC22A5

Genetic Association Database (GAD)
SLC22A5
Human Genome Epidemiology (HuGE) Navigator
SLC22A5
genes like me logo Genes that share disorders with SLC22A5: view

Publications for SLC22A5 Gene

  1. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. (PMID: 9685390) Tamai I. … Tsuji A. (J. Biol. Chem. 1998) 2 3 4 23
  2. Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. (PMID: 15714519) Dobrowolski S.F. … Longo N. (Hum. Mutat. 2005) 3 4 23 49
  3. Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. (PMID: 10454528) Wu X. … Ganapathy V. (J. Pharmacol. Exp. Ther. 1999) 3 4 23 25
  4. cDNA sequence, transport function, and genomic organization of human OCTN2, a new member of the organic cation transporter family. (PMID: 9618255) Wu X. … Ganapathy V. (Biochem. Biophys. Res. Commun. 1998) 2 3 4 25
  5. Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency. (PMID: 10072434) Tang N.L. … Hjelm N.M. (Hum. Mol. Genet. 1999) 3 4 23

Products for SLC22A5 Gene

Sources for SLC22A5 Gene

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