SLC22A2

Chr 6

solute carrier family 22 member 2

Also known as: OCT2

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. This gene is one of three similar cation transporter genes located in a cluster on chromosome 6. The encoded protein contains twelve putative transmembrane domains and is a plasma integral membrane protein. It is found primarily in the kidney, where it may mediate the first step in cation reabsorption. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
27
Pubs (1 yr)
P/LP submissions
P/LP missense
1.15
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.15LOEUF
pLI 0.000
Z-score 0.94
OE 0.80 (0.571.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.07Z-score
OE missense 1.01 (0.921.10)
339 obs / 335.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.80 (0.571.15)
00.351.4
Missense OE?1.01 (0.921.10)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 21 / 26.2Missense obs/exp: 339 / 335.6Syn Z: 0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SLC22A2 · 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

No active trials found for this gene.

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