ODF2L

Chr 1

outer dense fiber of sperm tails 2 like

NCBI Gene: 57489 ENSG00000122417 UniProt: Q9ULJ1 OMIM: 620130

The protein suppresses the initiation of ciliogenesis and is localized to centriolar satellites and ciliary basal bodies. Mutations cause autosomal recessive primary ciliary dyskinesia, characterized by chronic respiratory tract infections, bronchiectasis, and situs inversus. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.

OMIM ResearchSummary from RefSeq, UniProt

Involved in negative regulation of cilium assembly. Located in centriolar satellite and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.22

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.22LOEUF

pLI 0.000

Z-score 0.53

OE 0.90 (0.67–1.22)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.20Z-score

OE missense 1.03 (0.94–1.14)

289 obs / 279.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.90 (0.67–1.22)

0≤0.351.4

Missense OE?1.03 (0.94–1.14)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 30 / 33.3Missense obs/exp: 289 / 279.4Syn Z: -0.39

Background carrier burden — how many people carry a rare variant somewhere in ODF2L?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 66

887 rare PASS variants

Rare truncating (LoF)

1 in 240

220 rare PASS variants

Rare synonymous (reference)

1 in 190

283 rare PASS variants

Rare missense and truncating variants are carried at similar rates in ODF2L; 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 88	1 in 240
South Asian	~43k	1 in 65	1 in 360
Remaining (unassigned)	~30k	1 in 54	1 in 160
European (Finnish)	~27k	1 in 180	1 in 420
Admixed American	~22k	1 in 53	1 in 300
African / African American	~21k	1 in 50	1 in 390
East Asian	~20k	1 in 64	1 in 370
Ashkenazi Jewish	~13k	1 in 190	1 in 830
Middle Eastern	~2,884	1 in 72	≈ 1 in 670

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): 4 of 16 coding exons well covered in gnomAD exomes; exons 2, 3, 4, 5, 6 and 7 more marginal. Genomes: all 16.? see exons ↓