XKR3

Chr 22

XK related 3

Also known as: XRG3, XTES

NCBI Gene: 150165ENSG00000172967UniProt: Q5GH77

XKRX (MIM 300684) and XKR3 are homologs of the Kell blood group precursor XK (MIM 314850), which is a putative membrane transporter and a component of the XK/Kell complex of the Kell blood group system (Calenda et al., 2006 [PubMed 16431037]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
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?
0.93LOEUF
pLI 0.079
Z-score 1.71
OE 0.36 (0.16–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.10Z-score
OE missense 0.77 (0.67–0.89)
144 obs / 186.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.16–0.93)
0≤0.351.4
Missense OE?0.77 (0.67–0.89)
0≤0.61.4
Synonymous OE?0.70
0≤1.21.6
LoF obs/exp: 3 / 8.3Missense obs/exp: 144 / 186.4Syn Z: 1.94

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

XKR3 · 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