NOX5

Chr 15

NADPH oxidase 5

NCBI Gene: 79400 ENSG00000255346 UniProt: Q96PH1

Enables proton channel activity and superoxide-generating NADPH oxidase activity. Involved in several processes, including endothelial cell proliferation; positive regulation of reactive oxygen species metabolic process; and superoxide anion generation. Located in endoplasmic reticulum and plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.43

LOEUF

Multiple*

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?

1.43LOEUF

pLI 0.000

Z-score -0.55

OE 1.10 (0.85–1.43)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.84Z-score

OE missense 0.89 (0.82–0.97)

406 obs / 456.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.10 (0.85–1.43)

0≤0.351.4

Missense OE?0.89 (0.82–0.97)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 40 / 36.4Missense obs/exp: 406 / 456.4Syn Z: 0.40

Background carrier burden — how many people carry a rare variant somewhere in NOX5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 41

1,059 rare PASS variants

Rare truncating (LoF)

1 in 450

196 rare PASS variants

Rare synonymous (reference)

1 in 160

434 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NOX5. 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 65	1 in 450
South Asian	~43k	1 in 52	1 in 310
Remaining (unassigned)	~30k	1 in 37	1 in 590
European (Finnish)	~27k	1 in 210	1 in 2,100
Admixed American	~22k	1 in 33	1 in 340
African / African American	~21k	1 in 48	1 in 390
East Asian	~20k	1 in 43	1 in 550
Ashkenazi Jewish	~13k	1 in 240	≈ 1 in 4,200
Middle Eastern	~2,884	1 in 46	≈ 1 in 900

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 16 coding exons well covered in gnomAD exomes and genomes.? see exons ↓