SLC22A16

Chr 6

solute carrier family 22 member 16

Also known as: CT2, FLIPT2, HEL-S-18, OAT6, OCT6, OKB1, dJ261K5.1

NCBI Gene: 85413ENSG00000004809UniProt: Q86VW1

This gene encodes a member of the organic zwitterion transporter protein family which transports carnitine. The encoded protein has also been shown to transport anticancer drugs like bleomycin (PMID: 20037140) successful treatment has been correlated with the level of activity of this transporter in tumor cells. [provided by RefSeq, Dec 2011]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.85
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.85LOEUF
pLI 0.000
Z-score -1.94
OE 1.43 (1.08–1.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.64Z-score
OE missense 1.10 (1.01–1.20)
347 obs / 315.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.43 (1.08–1.85)
0≤0.351.4
Missense OE?1.10 (1.01–1.20)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 34 / 23.8Missense obs/exp: 347 / 315.2Syn Z: -0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC22A16 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients