SLC14A2

Chr 18

solute carrier family 14 member 2

Also known as: HUT2, UT-A2, UT2, UTA, UTR, hUT-A6

The protein encoded by this gene belongs to the urea transporter family. In mammalian cells, urea is the chief end product of nitrogen catabolism, and plays an important role in the urinary concentration mechanism. This protein is expressed in the inner medulla of the kidney, and mediates rapid transepithelial urea transport across the inner medullary collecting duct. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2011]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
0.98
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?
0.98LOEUF
pLI 0.000
Z-score 1.66
OE 0.73 (0.560.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.14Z-score
OE missense 1.02 (0.951.09)
534 obs / 525.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.73 (0.560.98)
00.351.4
Missense OE?1.02 (0.951.09)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 33 / 45.0Missense obs/exp: 534 / 525.1Syn Z: -0.30

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →