DEFB114

Chr 6

defensin beta 114

Also known as: DEFB-14, DEFB14

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]

ResearchGenerating clinical summary…
0
Active trials
1
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.89LOEUF
pLI 0.092
Z-score 0.00
OE 1.00 (0.271.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.45Z-score
OE missense 1.21 (0.951.54)
45 obs / 37.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.00 (0.271.89)
00.351.4
Missense OE?1.21 (0.951.54)
00.61.4
Synonymous OE?1.15
01.21.6
LoF obs/exp: 1 / 1.0Missense obs/exp: 45 / 37.3Syn Z: -0.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

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

No active trials found for this gene.

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