DEFB123

Chr 20

defensin beta 123

Also known as: DEFB-23, DEFB23, ESC42-RELD

NCBI Gene: 245936ENSG00000180424UniProt: Q8N688

The protein functions as an antimicrobial defensin with antibacterial activity, serving as part of the host immune response against invading microorganisms. Currently, no Mendelian diseases have been definitively associated with mutations in this gene. The gene shows moderate tolerance to loss-of-function variants (pLI = 0.41, LOEUF = 1.68), suggesting it may not be essential for normal development.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
1
Pubs (1 yr)
16
P/LP submissions
0%
P/LP missense
1.68
LOEUF
—
Mechanism
Clinical Summary— DEFB123
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.
📋
ClinVar Variants
16 unique Pathogenic / Likely Pathogenic· 12 VUS of 36 total submissions
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.68LOEUF
pLI 0.410
Z-score 0.99
OE 0.00 (0.00–1.68)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.32Z-score
OE missense 0.85 (0.63–1.16)
28 obs / 33.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–1.68)
0≤0.351.4
Missense OE0.85 (0.63–1.16)
0≤0.61.4
Synonymous OE0.78
0≤1.21.6
LoF obs/exp: 0 / 1.1Missense obs/exp: 28 / 33.1Syn Z: 0.62

ClinVar Variant Classifications

36 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic6
VUS12
Likely Benign8
10
Pathogenic
6
Likely Pathogenic
12
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
4
8
0
12
Likely Benign
0
2
6
0
8
Benign
0
0
0
0
0
Total0630036

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

View in ClinVar →

Protein Context — Lollipop Plot

DEFB123 · 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.

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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 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