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Aliases for SLC22A5 Gene

Aliases for SLC22A5 Gene

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

External Ids for SLC22A5 Gene

Previous HGNC Symbols for SLC22A5 Gene

  • CDSP

Previous GeneCards Identifiers for SLC22A5 Gene

  • GC05P131227
  • GC05P132152
  • GC05P131661
  • GC05P131707
  • GC05P131708
  • GC05P131733
  • GC05P126897

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. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2015]

GeneCards Summary for SLC22A5 Gene

SLC22A5 (Solute Carrier Family 22 Member 5) is a Protein Coding gene. Diseases associated with SLC22A5 include Carnitine Deficiency, Systemic Primary and Visceral Steatosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Phospholipase D signaling pathway. GO annotations related to this gene include PDZ domain binding and symporter activity. An important paralog of this gene is SLC22A4.

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

Regulatory Elements for SLC22A5 Gene

Enhancers for SLC22A5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around SLC22A5 on UCSC Golden Path with GeneCards custom track

Promoters for SLC22A5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for SLC22A5 Gene

Chromosome:
5
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

Genes around SLC22A5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SLC22A5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SLC22A5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for SLC22A5 Gene

  • Glycosylation at Asn 57, Asn 64, and Asn 91
  • Modification sites at PhosphoSitePlus

Other Protein References for SLC22A5 Gene

No data available for DME Specific Peptides for SLC22A5 Gene

Domains & Families for SLC22A5 Gene

Gene Families for SLC22A5 Gene

Protein Domains for SLC22A5 Gene

Suggested Antigen Peptide Sequences for SLC22A5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O76082

UniProtKB/Swiss-Prot:

S22A5_HUMAN :
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
Family:
  • Belongs to the major facilitator (TC 2.A.1) superfamily. Organic cation transporter (TC 2.A.1.19) family.
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:0015226 carnitine transmembrane transporter activity TAS --
GO:0015238 drug transmembrane transporter activity IC 15238359
GO:0015293 symporter activity IEA --
genes like me logo Genes that share ontologies with SLC22A5: view
genes like me logo Genes that share phenotypes with SLC22A5: view

Human Phenotype Ontology for SLC22A5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for SLC22A5 Gene

miRTarBase miRNAs that target SLC22A5

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
extracellular 5
plasma membrane 5
mitochondrion 2
chloroplast 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SLC22A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016324 apical plasma membrane IDA 17274673
GO:0031526 brush border membrane ISS 15523054
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with SLC22A5: view

Pathways & Interactions for SLC22A5 Gene

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

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 IEA --
GO:0009437 carnitine metabolic process IBA --
GO:0015697 quaternary ammonium group transport IDA 9618255
GO:0015879 carnitine transport IMP 9916797
genes like me logo Genes that share ontologies with SLC22A5: view

No data available for SIGNOR curated interactions for SLC22A5 Gene

Drugs & Compounds for SLC22A5 Gene

(68) Drugs for SLC22A5 Gene - From: DrugBank, PharmGKB, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desipramine Approved Pharma Transporter, inhibitor 39
verapamil Approved Pharma Channel blocker, Transporter, inhibitor 123
Amphetamine Approved, Illicit Pharma Transporter, inhibitor 105
Ampicillin Approved, Vet_approved Pharma Transporter, inhibitor 54
Azidocillin Approved Pharma Transporter, inhibitor 0

(4) Additional Compounds for SLC22A5 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
4-ene-Valproic acid
O-Desmethylverapamil (D-702)
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 differential expression in normal tissues according to GTEx for SLC22A5 Gene

This gene is overexpressed in Muscle - Skeletal (x7.5) and Kidney - Cortex (x6.6).

Protein differential expression in normal tissues from HIPED for SLC22A5 Gene

This gene is overexpressed in Cerebral cortex (32.9), Placenta (17.4), and Urine (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SLC22A5 Gene



Protein tissue co-expression partners for SLC22A5 Gene

NURSA nuclear receptor signaling pathways regulating expression of SLC22A5 Gene:

SLC22A5

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 expression patterns with SLC22A5: view

Primer Products

Orthologs for SLC22A5 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SLC22A5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia SLC22A5 34
  • 90.9 (n)
  • 90.48 (a)
SLC22A5 35
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SLC22A5 34
  • 89.81 (n)
  • 90.47 (a)
SLC22A5 35
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Slc22a5 34
  • 86.71 (n)
  • 85.46 (a)
Slc22a5 16
Slc22a21 35
  • 77 (a)
OneToMany
Slc22a5 35
  • 85 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia SLC22A5 34
  • 98.86 (n)
  • 98.74 (a)
rat
(Rattus norvegicus)
Mammalia Slc22a5 34
  • 86.54 (n)
  • 85.46 (a)
oppossum
(Monodelphis domestica)
Mammalia SLC22A5 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SLC22A5 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 30 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia SLC22A5 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731319 34
  • 69.75 (n)
  • 72.51 (a)
MGC76054 34
African clawed frog
(Xenopus laevis)
Amphibia slc22a5-prov 34
zebrafish
(Danio rerio)
Actinopterygii slc22a4 34
  • 58.69 (n)
  • 49.54 (a)
zgc66036 34
slc22a21 35
  • 60 (a)
ManyToMany
slc22a4 35
  • 48 (a)
ManyToMany
slc22a5 35
  • 47 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta CG13610 36
  • 31 (a)
CG14855 36
  • 25 (a)
CG14857 36
  • 26 (a)
CG16727 36
  • 27 (a)
CG17751 36
  • 27 (a)
CG17752 36
  • 27 (a)
CG3790 36
  • 31 (a)
CG4630 36
  • 32 (a)
CG5592 36
  • 27 (a)
CG6126 36
  • 29 (a)
CG6231 36
  • 26 (a)
CG6356 36
  • 27 (a)
CG6600 36
  • 29 (a)
CG7084 36
  • 28 (a)
CG7333 36
  • 26 (a)
CG7442 36
  • 27 (a)
CG7458 36
  • 27 (a)
CG8654 36
  • 32 (a)
CG8925 36
  • 29 (a)
CG9317 36
  • 32 (a)
Orct 36
  • 35 (a)
worm
(Caenorhabditis elegans)
Secernentea B0252.3 36
  • 26 (a)
F52F12.1a 36
  • 31 (a)
K05F1.6 36
  • 27 (a)
oat-1 36
  • 25 (a)
oct-1 36
  • 31 (a)
Y82E9BR.16 36
  • 26 (a)
ZK455.8a 36
  • 28 (a)
ZK455.8b 36
  • 28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons 2-Oct 34
  • 43.65 (n)
  • 34.26 (a)
rice
(Oryza sativa)
Liliopsida Os07g0562300 34
  • 46.75 (n)
  • 33.59 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
ManyToMany
-- 35
  • 29 (a)
ManyToMany
-- 35
  • 30 (a)
ManyToMany
-- 35
  • 31 (a)
ManyToMany
Species where no ortholog for SLC22A5 was found in the sources mined by GeneCards:
  • 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
rs121908889 Systemic primary carnitine deficiency (CDSP) 132,384,155(+) TGGCC(A/G)GAAGA nc-transcript-variant, upstream-variant-2KB, reference, missense
rs121908888 Systemic primary carnitine deficiency (CDSP) 132,384,281(+) CAACT(A/G)TGTGG nc-transcript-variant, reference, missense
rs72552729 Systemic primary carnitine deficiency (CDSP) 132,387,047(+) CCCGA(A/C/T)GGCTC nc-transcript-variant, reference, missense
rs72552733 Systemic primary carnitine deficiency (CDSP) 132,392,501(+) CCATG(G/T)TCTAC nc-transcript-variant, downstream-variant-500B, reference, missense
rs72552734 Systemic primary carnitine deficiency (CDSP) 132,392,519(+) CAGCC(A/G)AGCTG nc-transcript-variant, downstream-variant-500B, reference, missense

Variation tolerance for SLC22A5 Gene

Residual Variation Intolerance Score: 85.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.63; 65.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SLC22A5 Gene

Human Gene Mutation Database (HGMD)
SLC22A5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SLC22A5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for SLC22A5 Gene

Disorders for SLC22A5 Gene

MalaCards: The human disease database

(5) MalaCards diseases for SLC22A5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
carnitine deficiency, systemic primary
  • systemic primary carnitine deficiency disease
visceral steatosis
  • fatty metamorphosis of viscera
crohn's disease
  • crohn disease
hypoglycemia
  • hypoglycaemia
cardiomyopathy
  • cardiomyopathies
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for SLC22A5

Genetic Association Database (GAD)
SLC22A5
Human Genome Epidemiology (HuGE) Navigator
SLC22A5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SLC22A5
genes like me logo Genes that share disorders with SLC22A5: view

No data available for Genatlas for SLC22A5 Gene

Publications for SLC22A5 Gene

  1. 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 22 46 65
  2. 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 22 25 65
  3. 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 65
  4. 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 22 65
  5. Transport of ipratropium, an anti-chronic obstructive pulmonary disease drug, is mediated by organic cation/carnitine transporters in human bronchial epithelial cells: implications for carrier-mediated pulmonary absorption. (PMID: 20020740) Nakamura T. … Tamai I. (Mol. Pharm. 2010) 3 22 25 65

Products for SLC22A5 Gene

Sources for SLC22A5 Gene

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