SLC14A1

Chr 18

solute carrier family 14 member 1 (Kidd blood group)

Also known as: HUT11, HUT11A, HsT1341, JK, Jk(a), Jk(b), RACH1, RACH2

NCBI Gene: 6563ENSG00000141469UniProt: Q13336

The protein encoded by this gene is a membrane transporter that mediates urea transport in erythrocytes. This gene forms the basis for the Kidd blood group system. [provided by RefSeq, Mar 2009]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
nephrogenic diabetes insipidus · ARNo Known Disease Relationshipno established gene-disease relationship
0
Active trials
24
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.50
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.50LOEUF
pLI 0.000
Z-score -0.13
OE 1.03 (0.72–1.50)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.01Z-score
OE missense 1.00 (0.90–1.11)
246 obs / 245.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.03 (0.72–1.50)
0≤0.351.4
Missense OE?1.00 (0.90–1.11)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 20 / 19.4Missense obs/exp: 246 / 245.6Syn Z: -0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLC14A1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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