SLC22A5 Gene (Protein Coding)

Solute Carrier Family 22 Member 5

GC05P132369
GIFtS:
46
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 carnitin... See more...

Aliases for SLC22A5 Gene

Aliases for SLC22A5 Gene

  • Solute Carrier Family 22 Member 5 2 3 4 5
  • OCTN2 2 3 4
  • Organic Cation/Carnitine Transporter 2 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
  • SLC22A5 5
  • CDSP 3
  • SCD 2

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 Phospholipase D signaling pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include PDZ domain binding and symporter activity. An important paralog of this gene is SLC22A4.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for SLC22A5 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SLC22A5 Gene

Genomics for SLC22A5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for SLC22A5 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SLC22A5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SLC22A5

Top Transcription factor binding sites by QIAGEN in the SLC22A5 gene promoter:
  • AML1a
  • c-Myb
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Lmo2
  • MyoD

Genomic Locations for SLC22A5 Gene

Genomic Locations for SLC22A5 Gene
chr5:132,369,704-132,395,614
(GRCh38/hg38)
Size:
25,911 bases
Orientation:
Plus strand
chr5:131,705,401-131,731,306
(GRCh37/hg19)
Size:
25,906 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 Structure • Gene Density

RefSeq DNA sequence for SLC22A5 Gene

Proteins for SLC22A5 Gene

Products:

  1. Antibody
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  • 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.
    • [Isoform 3]: Retained in the ER, unable to perform carnitine uptake.

    Alternative splice isoforms for SLC22A5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SLC22A5 Gene

Protein Expression for SLC22A5 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for SLC22A5 Gene

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

Other Protein References for SLC22A5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SLC22A5 Gene

Domains & Families for SLC22A5 Gene

Gene Families for SLC22A5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for SLC22A5 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SLC22A5 Gene

GenScript: Design optimal peptide antigens:
  • Organic cation/carnitine transporter 2 (S22A5_HUMAN)

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

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  2. CRISPR
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Molecular function for SLC22A5 Gene

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.
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

Phenotypes From GWAS Catalog for SLC22A5 Gene

Gene Ontology (GO) - Molecular Function for SLC22A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 15523054
GO:0005524 ATP binding IEA --
GO:0015226 carnitine transmembrane transporter activity IMP 9916797
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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC22A5

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SLC22A5 gene
Compartment Confidence
plasma membrane 5
extracellular 4
mitochondrion 2
peroxisome 2
nucleus 2
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SLC22A5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IC,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of 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 & 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:0006811 ion transport IEA --
GO:0006814 sodium ion transport IEA --
GO:0009609 response to symbiotic bacterium IMP 18005709
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

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  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desipramine Approved, Investigational Pharma Transporter, inhibitor 42
Verapamil Approved Pharma Channel blocker, Pore Blocker, Inhibitor, Inhibition, Transporter, inhibitor 134
Amphetamine Approved, Illicit, Investigational Pharma Transporter, substrate 154
Ampicillin Approved, Vet_approved Pharma Transporter, inhibitor 73
Cefadroxil Approved, Vet_approved, Withdrawn Pharma Transporter, inhibitor 12

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Na(+)
  • Na+
  • SODIUM ion
 7440-23-5
4-ene-Valproic acid
  • 4-En-valproic acid
  • 4-Ene-vpa
  • 4-En-valproate
  • 4-Ene-valproate
  • 2-Propyl-4-pentenoic acid, (+-)-isomer
O-Desmethylverapamil (D-702)
genes like me logo Genes that share compounds with SLC22A5: view

Transcripts for SLC22A5 Gene

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  1. CRISPR
  2. miRNA
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mRNA/cDNA for SLC22A5 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SLC22A5

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

Expression for SLC22A5 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SLC22A5 Gene

mRNA expression in normal human tissues for SLC22A5 Gene
mRNA expression by GTEx for SLC22A5 GenemRNA expression by BioGPS 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, MaxQB, and MOPED for SLC22A5 Gene



Protein tissue co-expression partners for SLC22A5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for SLC22A5 Gene

  • Kidney(4.6)
  • Lung(4.4)
  • Skin(4)
  • Intestine(2.6)
  • Muscle(2.5)
  • Liver(2.3)
  • Nervous system(2.3)
  • Heart(2.3)
  • Blood(2.2)
  • Urine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SLC22A5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • ear
  • head
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns 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 30
  • 98.86 (n)
Cow
(Bos Taurus)
 Mammalia SLC22A5 30 31
  • 90.9 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia SLC22A5 30 31
  • 89.81 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Slc22a5 30 17 31
  • 86.71 (n)
 OneToMany
Slc22a21 31
  • 77 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Slc22a5 30
  • 86.54 (n)
Oppossum
(Monodelphis domestica)
 Mammalia SLC22A5 31
  • 77 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia SLC22A5 31
  • 72 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves -- 31
  • 30 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia SLC22A5 31
  • 68 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia LOC101731319 30
  • 69.75 (n)
MGC76054 30
African clawed frog
(Xenopus laevis)
 Amphibia slc22a5-prov 30
Zebrafish
(Danio rerio)
 Actinopterygii slc22a21 31
  • 60 (a)
 ManyToMany
slc22a4 30 31
  • 58.69 (n)
 ManyToMany
slc22a5 31
  • 47 (a)
 ManyToMany
zgc66036 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Orct 32
  • 35 (a)
CG8654 32
  • 32 (a)
CG4630 32
  • 32 (a)
CG9317 32
  • 32 (a)
CG13610 32
  • 31 (a)
CG3790 32
  • 31 (a)
CG8925 32
  • 29 (a)
CG6126 32
  • 29 (a)
CG6600 32
  • 29 (a)
CG7084 32
  • 28 (a)
CG6356 32
  • 27 (a)
CG7458 32
  • 27 (a)
CG16727 32
  • 27 (a)
CG17752 32
  • 27 (a)
CG5592 32
  • 27 (a)
CG7442 32
  • 27 (a)
CG17751 32
  • 27 (a)
CG14857 32
  • 26 (a)
CG6231 32
  • 26 (a)
CG7333 32
  • 26 (a)
CG14855 32
  • 25 (a)
Worm
(Caenorhabditis elegans)
 Secernentea oct-1 32
  • 31 (a)
F52F12.1a 32
  • 31 (a)
ZK455.8a 32
  • 28 (a)
ZK455.8b 32
  • 28 (a)
K05F1.6 32
  • 27 (a)
Y82E9BR.16 32
  • 26 (a)
B0252.3 32
  • 26 (a)
oat-1 32
  • 25 (a)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons 2-Oct 30
  • 43.65 (n)
Rice
(Oryza sativa)
 Liliopsida Os07g0562300 30
  • 46.75 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 31 (a)
 ManyToMany
-- 31
  • 30 (a)
 ManyToMany
-- 31
  • 30 (a)
 ManyToMany
-- 31
  • 29 (a)
 ManyToMany
Species where no ortholog for SLC22A5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for SLC22A5: view image

Paralogs for SLC22A5 Gene

Paralogs for SLC22A5 Gene

(13) SIMAP similar genes for SLC22A5 Gene using alignment to 5 proteins:

  • S22A5_HUMAN
  • F8WCC9_HUMAN
  • H7BZC0_HUMAN
  • H7BZF0_HUMAN
  • H7C1R8_HUMAN
genes like me logo Genes that share paralogs with SLC22A5: view

Variants for SLC22A5 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SLC22A5 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
639592 Uncertain Significance: Renal carnitine transport defect 132,390,909(+) G/A INTRON_VARIANT
641983 Uncertain Significance: Renal carnitine transport defect 132,385,379(+) T/C MISSENSE_VARIANT
642526 Uncertain Significance: Renal carnitine transport defect 132,390,836(+) G/A MISSENSE_VARIANT
645158 Pathogenic: Renal carnitine transport defect 132,390,794(+) CA/C FRAMESHIFT_VARIANT
645726 Uncertain Significance: Renal carnitine transport defect 132,385,445(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SLC22A5 Gene

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)

Additional Variant Information 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

(19) MalaCards diseases for SLC22A5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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:10559218, 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:16931768, ECO:0000269 PubMed:17126586, ECO:0000269 PubMed:20027113, ECO:0000269 PubMed:20074989, ECO:0000269 PubMed:20574985, ECO:0000269 PubMed:21922592, ECO:0000269 PubMed:28841266}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SLC22A5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 SF … Longo N (Human mutation 2005) 3 4 23 41
  2. Functional characteristics and tissue distribution pattern of organic cation transporter 2 (OCTN2), an organic cation/carnitine transporter. (PMID: 10454528) Wu X … Ganapathy V (The Journal of pharmacology and experimental therapeutics 1999) 3 4 23 26
  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 (Biochemical and biophysical research communications 1998) 2 3 4 26
  4. Molecular and functional identification of sodium ion-dependent, high affinity human carnitine transporter OCTN2. (PMID: 9685390) Tamai I … Tsuji A (The Journal of biological chemistry 1998) 2 3 4 23
  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 (Molecular pharmaceutics 2010) 3 23 26

ExternalLinks

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