DEFB136

Chr 8

defensin beta 136

Also known as: DEFB137

NCBI Gene: 613210 ENSG00000205884 UniProt: Q30KP8

The protein encoded by this gene is a secreted antimicrobial peptide that exhibits antibacterial and antifungal activity against pathogens including E. coli, S. aureus, and C. albicans, and may regulate immune responses through lipopolysaccharide neutralization. Based on the provided data, no disease associations or inheritance patterns have been established for mutations in this gene. The gene shows low constraint to loss-of-function variation, suggesting it may be tolerant to protein-truncating mutations.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.89

LOEUF

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 0.092

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 OE?0.98 (0.26–1.89)

0≤0.351.4

Missense OE?1.16 (0.93–1.47)

0≤0.61.4

Synonymous OE?1.58

0≤1.21.6

LoF obs/exp: 1 / 1.0Missense obs/exp: 50 / 43.0Syn Z: -1.85

Background carrier burden — how many people carry a rare variant somewhere in DEFB136?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 530

138 rare PASS variants

Rare truncating (LoF)

1 in 5,700

22 rare PASS variants

Rare synonymous (reference)

1 in 460

52 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DEFB136. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 660	1 in 6,000
South Asian	~43k	1 in 460	1 in 4,700
Remaining (unassigned)	~30k	1 in 250	1 in 500
European (Finnish)	~27k	1 in 1,100	≈ 1 in 27,000
Admixed American	~22k	1 in 240	none seen
African / African American	~21k	1 in 370	≈ 1 in 8,200
East Asian	~20k	1 in 350	≈ 1 in 9,900
Ashkenazi Jewish	~13k	≈ 1 in 6,400	none seen
Middle Eastern	~2,884	1 in 290	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓