DEFB135

Chr 8

defensin beta 135

NCBI Gene: 613209 ENSG00000205883 UniProt: Q30KP9

This gene encodes a secreted antimicrobial protein that belongs to the beta defensin family and has antibacterial activity as part of the innate immune response. No pediatric neurogenetic diseases have been definitively associated with DEFB135 mutations in the provided data. The gene shows low constraint against loss-of-function variants, suggesting it may tolerate functional disruption.

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

1.98

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.98LOEUF

pLI 0.000

Z-score -4.54

OE 5.82 (1.17–1.98)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.26Z-score

OE missense 1.55 (1.26–1.87)

65 obs / 42.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?5.82 (1.17–1.98)

0≤0.351.4

Missense OE?1.55 (1.26–1.87)

0≤0.61.4

Synonymous OE?1.32

0≤1.21.6

LoF obs/exp: 6 / 1.0Missense obs/exp: 65 / 42.1Syn Z: -1.00

Background carrier burden — how many people carry a rare variant somewhere in DEFB135?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 340

141 rare PASS variants

Rare truncating (LoF)

1 in 1,600

35 rare PASS variants

Rare synonymous (reference)

1 in 1,700

54 rare PASS variants

Rare missense and truncating variants are carried at similar rates in DEFB135; this gene does not show strong loss-of-function constraint by this measure. 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 280	1 in 1,800
South Asian	~43k	1 in 280	1 in 1,000
Remaining (unassigned)	~30k	1 in 310	1 in 1,100
European (Finnish)	~27k	1 in 1,800	none seen
Admixed American	~22k	1 in 330	1 in 1,500
African / African American	~21k	1 in 230	1 in 1,100
East Asian	~20k	1 in 330	≈ 1 in 19,000
Ashkenazi Jewish	~13k	1 in 460	1 in 670
Middle Eastern	~2,884	1 in 470	≈ 1 in 720

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): 1 of 2 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 2.? see exons ↓