DEFB107A

Chr 8

defensin beta 107A

Also known as: BD-7, DEFB-7, DEFB107

NCBI Gene: 245910ENSG00000186572UniProt: Q8IZN7

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. Chromosome 8p23 contains at least two copies of the duplicated beta-defensin cluster. This duplication results in two identical copies of defensin, beta 107, DEFB107A and DEFB107B, in tail-to-tail orientation. This gene, DEFB107A, represents the more centromeric copy. [provided by RefSeq, Oct 2014]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
0
Pubs (1 yr)
0.8
Missense Z
1.85
LOEUF
Clinical Summary— DEFB107A
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.00) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.85LOEUF
pLI 0.326
Z-score 0.60
OE 0.00 (0.00–1.85)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.76Z-score
OE missense 0.15 (0.05–0.73)
1 obs / 6.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–1.85)
0≤0.351.4
Missense OE0.15 (0.05–0.73)
0≤0.61.4
Synonymous OE0.00
0≤1.21.6
LoF obs/exp: 0 / 0.4Missense obs/exp: 1 / 6.5Syn Z: 1.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

DEFB107A · 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
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Copy Number Variants Captured by the Array Comparative Genomic Hybridization in a Cohort of Patients Affected with Hereditary Colorectal Cancer in Sri Lanka: The First CNV Analysis Study of the Hereditary Colorectal Cancer in the Sri Lankan Population
Wijesiriwardhana P et al.·Asian Pac J Cancer Prev
2021Cohort
Gingival Transcriptome of Innate Antimicrobial Factors and the Oral Microbiome With Aging and Periodontitis
Ebersole JL et al.·Front Oral Health
2022
Transcriptomic biomarker pathways associated with death in HIV-infected patients with cryptococcal meningitis
Vlasova-St Louis I et al.·BMC Med Genomics
2021Cohort
Copy number variations in Japanese children with autism spectrum disorder
Sakamoto Y et al.·Psychiatr Genet
2021
Integrated bioinformatics analysis and biological experiments to identify key immune genes in vascular dementia
Zhao Y et al.·Front Immunol
2025
Top 5 full-text resultsSearch PubTator3 ↗
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