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SLC22A12

Synonyms
OAT4L, RST, URAT1
External resources
Summary
The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
304
Likely pathogenic
130
VUS
3,445
Likely benign
1,254
Benign
193

Patient phenotypes

Proportions of phenotypes among 431 patients carrying pathogenic or likely pathogenic variants on SLC22A12 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
28.3%
Abnormality of the cardiovascular system
27.8%
Abnormality of the musculoskeletal system
15.1%
Abnormality of the ear
13.5%
Abnormality of head or neck
12.3%
Abnormality of the eye
10%
Abnormality of the genitourinary system
9.3%
Growth abnormality
7.7%
Abnormality of blood and blood-forming tissues
4.2%
Abnormality of the digestive system
4.2%
Abnormality of the immune system
3.5%
Abnormality of the integument
3.5%
Abnormality of limbs
3.2%
Abnormality of prenatal development or birth
2.6%
Abnormality of the endocrine system
2.1%
Neoplasm
1.6%
Abnormality of the respiratory system
1.2%
Constitutional symptom
1.2%
Abnormal cellular phenotype
0.2%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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