DEFB131A

Chr 4

defensin beta 131A

Also known as: DEFB-31, DEFB131

NCBI Gene: 644414ENSG00000186146UniProt: P59861

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 4p16. [provided by RefSeq, Nov 2014]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.94
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.013
Z-score -0.94
OE 2.01 (0.52–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-2.49Z-score
OE missense 2.25 (1.68–1.99)
71 obs / 31.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?2.01 (0.52–1.94)
0≤0.351.4
Missense OE?2.25 (1.68–1.99)
0≤0.61.4
Synonymous OE?2.50
0≤1.21.6
LoF obs/exp: 2 / 1.0Missense obs/exp: 71 / 31.6Syn Z: -3.87

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DEFB131A · 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