DEFB113

Chr 6

defensin beta 113

Also known as: DEFB-13

NCBI Gene: 245927ENSG00000214642UniProt: Q30KQ7

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. [provided by RefSeq, Oct 2014]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.094
Z-score 0.05
OE 0.95 (0.26–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.51Z-score
OE missense 1.23 (0.97–1.58)
46 obs / 37.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.95 (0.26–1.89)
0≤0.351.4
Missense OE?1.23 (0.97–1.58)
0≤0.61.4
Synonymous OE?1.06
0≤1.21.6
LoF obs/exp: 1 / 1.1Missense obs/exp: 46 / 37.3Syn Z: -0.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DEFB113 · 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 →

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