DEFB134

Chr 8

defensin beta 134

NCBI Gene: 613211 ENSG00000205882 UniProt: Q4QY38

The protein encoded by this gene is a secreted antimicrobial peptide that belongs to the beta defensin family and has antibacterial activity as part of the innate immune response. Currently, no human diseases have been definitively associated with mutations in DEFB134. The gene shows low constraint against loss-of-function variants, suggesting that complete loss of this defensin may be tolerated in humans.

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

1.96

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.96LOEUF

pLI 0.002

Z-score -1.67

OE 2.72 (0.72–1.96)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.45Z-score

OE missense 1.71 (1.37–1.95)

56 obs / 32.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?2.72 (0.72–1.96)

0≤0.351.4

Missense OE?1.71 (1.37–1.95)

0≤0.61.4

Synonymous OE?1.51

0≤1.21.6

LoF obs/exp: 3 / 1.1Missense obs/exp: 56 / 32.7Syn Z: -1.34

Background carrier burden — how many people carry a rare variant somewhere in DEFB134?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 580

117 rare PASS variants

Rare truncating (LoF)

1 in 6,300

20 rare PASS variants

Rare synonymous (reference)

1 in 2,800

34 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DEFB134. 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 850	1 in 13,000
South Asian	~43k	1 in 490	1 in 1,200
Remaining (unassigned)	~30k	1 in 670	≈ 1 in 6,000
European (Finnish)	~27k	1 in 3,300	none seen
Admixed American	~22k	1 in 800	1 in 1,100
African / African American	~21k	1 in 540	≈ 1 in 6,400
East Asian	~20k	1 in 640	none seen
Ashkenazi Jewish	~13k	1 in 1,600	none seen
Middle Eastern	~2,884	≈ 1 in 960	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 ↓