SPATA8

Chr 15

spermatogenesis associated 8

Also known as: SRG8

NCBI Gene: 145946 ENSG00000185594 UniProt: Q6RVD6 OMIM: 613948

The protein localizes to the sperm flagellum and is required for normal sperm motility and male fertility. Mutations cause autosomal recessive primary ciliary dyskinesia, a disorder affecting respiratory cilia function that typically presents in infancy or early childhood with chronic respiratory infections, bronchiectasis, and often situs inversus. The gene shows moderate tolerance to loss-of-function variants, consistent with its role in a recessive ciliopathy.

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.49

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.49LOEUF

pLI 0.070

Z-score 0.94

OE 0.50 (0.20–1.49)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.35Z-score

OE missense 1.13 (0.93–1.38)

67 obs / 59.4 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.50 (0.20–1.49)

0≤0.351.4

Missense OE?1.13 (0.93–1.38)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 2 / 4.0Missense obs/exp: 67 / 59.4Syn Z: -0.52

Background carrier burden — how many people carry a rare variant somewhere in SPATA8?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

none observed

0 rare PASS variants

Rare truncating (LoF)

1 in 20,000

7 rare PASS variants

Rare synonymous (reference)

none observed

0 rare PASS variants

Rare missense and truncating variants are carried at similar rates in SPATA8; 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 · 5 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	none seen	1 in 22,000
South Asian	~43k	none seen	1 in 6,800
Admixed American	~22k	none seen	≈ 1 in 15,000
East Asian	~20k	none seen	≈ 1 in 20,000
African / African American	~17k	none seen	≈ 1 in 5,900

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.