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 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]

Uniprot Accession IDs

• O76082
• A2Q0V1
• B2R844
• D3DQ87
• Q6ZQZ8
• Q96EH6

Gene Name

• SLC22A5

Ensembl ID

• ENST00000245407
• ENSP00000245407
• ENSG00000197375
• ENST00000435065
• ENSP00000402760

Symbol

• OCTN2
• CDSP
• OCTN2

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

Protein Classes

DTO Classes

Protein / Transporter / Slc Superfamily Of Solute Carriers / Slc22 Family Of Organic Cation And Anion Transporters / Organic Zwitterions/cation Transporters (Octn) / Solute Carrier Family 22 Member 5

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: 413.46   (req: < 5)

Gene RIFs: 116   (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: 413.46   (req: >= 5)

Gene RIFs: 116   (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