SLC22A4

Chr 5

solute carrier family 22 member 4

Also known as: DFNB60, ETTh, OCTN1

NCBI Gene: 6583ENSG00000197208UniProt: Q9H015OMIM: 604190

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 an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Rheumatoid arthritis, susceptibility to}MIM #180300

Clinical highlights

Gene-disease validity (ClinGen)
hearing loss, autosomal recessive · ARLimitednot for standalone diagnostic reporting
1
Active trials
33
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.000
Z-score 1.64
OE 0.64 (0.43–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.85Z-score
OE missense 0.86 (0.78–0.95)
259 obs / 300.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.43–0.98)
0≤0.351.4
Missense OE?0.86 (0.78–0.95)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 16 / 24.8Missense obs/exp: 259 / 300.6Syn Z: -1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC22A4 · protein map & ClinVar variants

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

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