SLC14A2
Chr 18solute carrier family 14 member 2
Also known as: HUT2, UT-A2, UT2, UTA, UTR, hUT-A6
The encoded protein mediates urea transport across the renal inner medullary collecting duct membrane, which is critical for the kidney's urinary concentrating mechanism. Mutations cause autosomal recessive renal tubular dysgenesis with severe polyhydramnios, oligohydramnios sequence, and neonatal renal failure. This gene shows minimal constraint against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
215 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 46 | 0 | 46 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 141 | 5 | 0 | 146 |
Likely Benign | 0 | 3 | 1 | 1 | 5 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 145 | 54 | 1 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLC14A2 · 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
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools