NEK5

Chr 13

NIMA related kinase 5

NCBI Gene: 341676 ENSG00000197168 UniProt: Q6P3R8

NEK5 encodes a protein kinase predicted to function in chromatin remodeling and positive regulation of striated muscle cell differentiation. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting respiratory cilia function leading to chronic respiratory infections, bronchiectasis, and potentially situs inversus. The gene shows no constraint against loss-of-function variants (pLI near 0), consistent with autosomal recessive inheritance where heterozygous carriers are typically unaffected.

ResearchSummary from RefSeq

Predicted to enable protein kinase activity. Predicted to act upstream of or within positive regulation of striated muscle cell differentiation. Located in sperm flagellum. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (2)

gnomad: Error: gnomAD API error: 400

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in NEK5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 49

966 rare PASS variants

Rare truncating (LoF)

1 in 350

251 rare PASS variants

Rare synonymous (reference)

1 in 140

330 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for NEK5. 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 63	1 in 460
South Asian	~43k	1 in 43	1 in 310
Remaining (unassigned)	~30k	1 in 41	1 in 240
European (Finnish)	~27k	1 in 100	1 in 1,500
Admixed American	~22k	1 in 62	1 in 320
African / African American	~21k	1 in 40	1 in 220
East Asian	~20k	1 in 58	1 in 250
Ashkenazi Jewish	~13k	1 in 440	1 in 1,500
Middle Eastern	~2,884	1 in 42	1 in 480

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 8 of 22 coding exons well covered in gnomAD exomes; exon 22 poorly covered; exons 3, 4, 5, 6, 8 and 8 more marginal. Genomes: all 22.? see exons ↓