DEFB119

Chr 20

defensin beta 119

Also known as: DEFB-19, DEFB-20, DEFB120, DEFB20, ESC42-RELA, ESC42-RELB

NCBI Gene: 245932ENSG00000180483UniProt: Q8N690

The protein is an antimicrobial peptide that protects tissues from bacterial infections. Mutations in this gene have not been definitively associated with any recognized human genetic disease. The gene shows tolerance to loss-of-function variation with a low constraint score, suggesting haploinsufficiency may not cause disease.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
1
Pubs (1 yr)
16
P/LP submissions
0%
P/LP missense
1.88
LOEUF
DN
Mechanism· predicted
Clinical Summary— DEFB119
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.10) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
16 unique Pathogenic / Likely Pathogenic· 30 VUS of 55 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.88LOEUF
pLI 0.097
Z-score 0.10
OE 0.90 (0.25–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.09Z-score
OE missense 0.97 (0.77–1.22)
51 obs / 52.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.90 (0.25–1.88)
0≤0.351.4
Missense OE0.97 (0.77–1.22)
0≤0.61.4
Synonymous OE0.69
0≤1.21.6
LoF obs/exp: 1 / 1.1Missense obs/exp: 51 / 52.8Syn Z: 0.94
DN
0.82top 10%
GOF
0.5563th %ile
LOF
0.11100th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

55 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic6
VUS30
Likely Benign8
10
Pathogenic
6
Likely Pathogenic
30
VUS
8
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
10
0
10
Likely Pathogenic
0
0
6
0
6
VUS
0
22
8
0
30
Likely Benign
0
2
6
0
8
Benign
0
0
0
0
0
Total02430054

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

DEFB119 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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