You are using an outdated browser. Please upgrade your browser to improve your experience.

Tbio
SLC22A5
Solute carrier family 22 member 5

Protein Summary
Description
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. 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 dec ...more
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000245407
  • ENSP00000245407
  • ENSG00000197375
  • ENST00000435065
  • ENSP00000402760

Symbol
  • OCTN2
  • CDSP
  • OCTN2
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
drug
1
molecular function
1
disease perturbation
0.99
transcription factor perturbation
0.88
virus perturbation
0.88


Related Tools
RESOLUTE
RESOLUTE is a public-private partnership with the goal of escalating research on solute carriers (SLCs) and to establish SLCs as a tractable target class for medical research and development.
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 362.61   (req: < 5)
Gene RIFs: 96   (req: <= 3)
Antibodies: 158   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 362.61   (req: >= 5)
Gene RIFs: 96   (req: > 3)
Antibodies: 158   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 14
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
GWAS Traits (9)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
2
2
2
90.5
blood metabolite measurement
2
3
3
89.8
low density lipoprotein cholesterol measurement
3
2
3
70.2
leukocyte count
1
1
1
54.1
reticulocyte measurement
2
2
2
47
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
mean platelet volume
2
90.5
blood metabolite measurement
3
89.8
low density lipoprotein cholesterol measurement
3
70.2
leukocyte count
1
54.1
reticulocyte measurement
2
47
Orthologs (7)
1 – 5 of 7
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Macaque
solute carrier family 22 member 5
707590
Mouse
MGI:1329012
20520
Rat
RGD:3702
29726
Dog
solute carrier family 22 member 5
VGNC:46279
608146
Horse
solute carrier family 22 member 5
VGNC:23078
100072871
Species
Name
OMA
EggNOG
Inparanoid
Macaque
solute carrier family 22 member 5
Mouse
Rat
Dog
solute carrier family 22 member 5
Horse
solute carrier family 22 member 5
Protein Structure (0 Structures, 1 AlphaFold Model)
RepresentationColor Scheme
AF-O76082-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

Pathways (14)
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) (R-HSA-5619053)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 13
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
Reactome
Disease
Reactome
Disorders of transmembrane transporters
Reactome
Fatty acid metabolism
Reactome
Import of palmitoyl-CoA into the mitochondrial matrix
Name
Explore in Pharos
Explore in Source
Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)
Disease
Disorders of transmembrane transporters
Fatty acid metabolism
Import of palmitoyl-CoA into the mitochondrial matrix
Gene Ontology Terms (19)
Items per page:
10
1 – 6 of 6
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Direct Assay (IDA)
BHF-UCL
Inferred from Physical Interaction (IPI)
BHF-UCL
Inferred by Curator (IC)
BHF-UCL
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Inferred from Electronic Annotation (IEA)
UniProtKB-KW
Protein-Protein Interactions (81)
1 – 10 of 81
YIPF3
Tbio
Novelty: 0.12021667
p_int: 0.999999633
p_ni: 3.67e-7
Data Source: BioPlex
PDZK1P1
Tdark
p_int: 0.999995646
p_ni: 0.000002354
p_wrong: 0.000002
Data Source: BioPlex
SLC22A9
Tbio
Family: Transporter
Novelty: 0.02212992
p_int: 0.999762506
p_ni: 0.000237462
p_wrong: 3.2e-8
Score: 0.305
Data Source: BioPlex,STRINGDB
KLRC4
Tbio
Novelty: 0.16922525
p_int: 0.998455219
p_ni: 0.000674368
p_wrong: 0.000870413
Data Source: BioPlex
HMGCS1
Tchem
Family: Enzyme
Novelty: 0.01089288
p_int: 0.958393039
p_ni: 0.041599653
p_wrong: 0.000007309
Score: 0.296
Data Source: BioPlex,STRINGDB
PIK3AP1
Tbio
Family: Enzyme
Novelty: 0.11565645
Score: 0.746
Data Source: STRINGDB
PDZK1
Tbio
Novelty: 0.01129974
Score: 0.696
Data Source: STRINGDB
SLC47A1
Tchem
Family: Transporter
Novelty: 0.00535064
Score: 0.695
Data Source: STRINGDB
SLC47A2
Tchem
Family: Transporter
Novelty: 0.01171254
Score: 0.694
Data Source: STRINGDB
SLC15A1
Tchem
Family: Transporter
Novelty: 0.00149723
Score: 0.694
Data Source: STRINGDB
Publication Statistics
PubMed Score  362.61

PubMed score by year
PubTator Score  218.43

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
Find similar targets by: