DEFB124

Chr 20

defensin beta 124

Also known as: DEFB-24

NCBI Gene: 245937ENSG00000180383UniProt: Q8NES8

Defensins are cysteine-rich cationic polypeptides that are important in the host immunologic response to invading microorganisms. This antimicrobial protein is secreted and is a member of the beta defensin protein family. Beta defensin genes are found in several clusters throughout the genome, with this gene mapping to a cluster at 20q11.1. The encoded protein may serve to enhance innate immunity in the prostate. [provided by RefSeq, Nov 2014]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.84
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.84LOEUF
pLI 0.113
Z-score 0.33
OE 0.70 (0.21–1.84)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.46Z-score
OE missense 0.79 (0.59–1.07)
30 obs / 38.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.70 (0.21–1.84)
0≤0.351.4
Missense OE?0.79 (0.59–1.07)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 1 / 1.4Missense obs/exp: 30 / 38.0Syn Z: 0.56

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DEFB124 · 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