DEFB114

Chr 6

defensin beta 114

Also known as: DEFB-14, DEFB14

NCBI Gene: 245928ENSG00000177684UniProt: Q30KQ6

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. The protein encoded by this gene is a beta-defensin with antimicrobial activity against E. coli, S. aureus, and C. albicans. The encoded protein also binds and neutralizes lipopolysaccharide (LPS), a factor involved in inflammatory diseases and male reproductive issues. [provided by RefSeq, Nov 2014]

0
Active trials
8
Pathogenic / LP
29
ClinVar variants
1
Pubs (1 yr)
-0.4
Missense Z
1.89
LOEUF
Clinical Summary— DEFB114
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.09) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
8 Pathogenic / Likely Pathogenic· 21 VUS of 29 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.89LOEUF
pLI 0.092
Z-score 0.00
OE 1.00 (0.27–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.45Z-score
OE missense 1.21 (0.95–1.54)
45 obs / 37.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.00 (0.27–1.89)
0≤0.351.4
Missense OE1.21 (0.95–1.54)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 1 / 1.0Missense obs/exp: 45 / 37.3Syn Z: -0.37
DN
DN
0.76top 25%
GOF
0.5464th %ile
LOF
0.1697th %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

29 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
Likely Pathogenic3
VUS21
5
Pathogenic
3
Likely Pathogenic
21
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
3
0
3
VUS
0
17
4
0
21
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total01712029

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

View in ClinVar →

DEFB114 · 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
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Corrigendum to "DEFB114 protein enhances host resistance to fungal infection through the NOD1/2-ATG16L1-NF-kappaB signaling pathway" [Bioorg. Chem. 146 (2024) 107245].
Chen J et al.·Bioorg Chem
2024
Nomogram construction based on characteristic genes and clinical variables to predict the risk of multiple organ dysfunction syndrome caused by influenza in children.
Chi M et al.·Transl Pediatr
2025
Implications of Human Antimicrobial Peptide Defensin Beta-1 in Clinical Oral Squamous Cell Carcinoma Patients via an Integrated Bioinformatics Approach
Li S et al.·Comput Math Methods Med
2022Cohort
Identification of loci associated with susceptibility to Mycobacterium avium subsp. paratuberculosis infection in Holstein cattle using combinations of diagnostic tests and imputed whole-genome sequence data
Canive M et al.·PLoS One
2021
Defensins: defenders of human reproductive health
Zhai YJ et al.·Hum Reprod Update
2023
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 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