DEFB116

Chr 20

defensin beta 116

Also known as: DEFB-16

NCBI Gene: 245930ENSG00000215545UniProt: Q30KQ4

Defensins form a family of antimicrobial and cytotoxic peptides made by neutrophils. Defensins are short, processed peptide molecules that are classified by structure into three groups: alpha-defensins, beta-defensins and theta-defensins. All beta-defensin genes are densely clustered in four to five syntenic chromosomal regions. [provided by RefSeq, Oct 2014]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.95
LOEUF
DN
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?
1.95LOEUF
pLI 0.002
Z-score -1.46
OE 2.41 (0.70–1.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.96Z-score
OE missense 1.77 (1.48–1.96)
91 obs / 51.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?2.41 (0.70–1.95)
0≤0.351.4
Missense OE?1.77 (1.48–1.96)
0≤0.61.4
Synonymous OE?1.21
0≤1.21.6
LoF obs/exp: 3 / 1.2Missense obs/exp: 91 / 51.5Syn Z: -0.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DEFB116 · 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