DEFB136

Chr 8

defensin beta 136

Also known as: DEFB137

NCBI Gene: 613210ENSG00000205884UniProt: Q30KP8

Defensins are cysteine-rich cationic polypeptides that are important in the immunologic response to invading microorganisms. The antimicrobial protein encoded by this gene 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 8p23. [provided by RefSeq, Nov 2014]

0
Active trials
105
Pathogenic / LP
137
ClinVar variants
0
Pubs (1 yr)
-0.4
Missense Z
1.89
LOEUF
Clinical Summary— DEFB136
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.09) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
105 Pathogenic / Likely Pathogenic· 27 VUS of 137 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 0.02
OE 0.98 (0.26–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.38Z-score
OE missense 1.16 (0.93–1.47)
50 obs / 43.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.98 (0.26–1.89)
0≤0.351.4
Missense OE1.16 (0.93–1.47)
0≤0.61.4
Synonymous OE1.58
0≤1.21.6
LoF obs/exp: 1 / 1.0Missense obs/exp: 50 / 43.0Syn Z: -1.85
DN
DN
0.6743th %ile
GOF
0.5562th %ile
LOF
0.1994th %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

137 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic100
Likely Pathogenic5
VUS27
Likely Benign1
Benign4
100
Pathogenic
5
Likely Pathogenic
27
VUS
1
Likely Benign
4
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
100
0
100
Likely Pathogenic
0
0
5
0
5
VUS
0
21
6
0
27
Likely Benign
0
0
1
0
1
Benign
0
0
4
0
4
Total0211160137

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

View in ClinVar →

DEFB136 · 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
A Genome-Wide Association Study of 2304 Extreme Longevity Cases Identifies Novel Longevity Variants
Bae H et al.·Int J Mol Sci
2022Cohort
Deep learning-derived cardiovascular age shares a genetic basis with other cardiac phenotypes
Libiseller-Egger J et al.·Sci Rep
2022
Cancer susceptibility 18 positively regulates NUAK Family Kinase 1 expression to promote migration and invasion via sponging of miR-5586-5p in cervical cancer cells
Wang J et al.·Int J Immunopathol Pharmacol
2023
Determinants of artificial intelligence electrocardiogram-derived age and its association with cardiovascular events and mortality: a systematic review and meta-analysis
Mossavarali S et al.·NPJ Digit Med
2025Review
Genetic Influence Underlying Brain Connectivity Phenotype: A Study on Two Age-Specific Cohorts
Cong S et al.·Front Genet
2022Cohort
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

No open access results found

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