CCDC87

Chr 11

coiled-coil domain containing 87

NCBI Gene: 55231 ENSG00000182791 UniProt: Q9NVE4

CCDC87 encodes a protein required for normal sperm head morphology and the acrosome reaction during spermatogenesis. Mutations cause male infertility with abnormal sperm morphology, inherited in an autosomal recessive pattern. This gene is not highly constrained against loss-of-function variants, consistent with its specific role in male reproductive function.

ResearchSummary from RefSeq, UniProt

Predicted to be involved in positive regulation of acrosome reaction and positive regulation of fertilization. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.41

LOEUF

GOF

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?

1.41LOEUF

pLI 0.000

Z-score 0.10

OE 0.98 (0.69–1.41)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.02Z-score

OE missense 1.00 (0.93–1.08)

469 obs / 467.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.98 (0.69–1.41)

0≤0.351.4

Missense OE?1.00 (0.93–1.08)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 21 / 21.5Missense obs/exp: 469 / 467.9Syn Z: 0.74

Background carrier burden — how many people carry a rare variant somewhere in CCDC87?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 51

1,145 rare PASS variants

Rare truncating (LoF)

1 in 530

171 rare PASS variants

Rare synonymous (reference)

1 in 220

472 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CCDC87. 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 74	1 in 610
South Asian	~43k	1 in 56	1 in 320
Remaining (unassigned)	~30k	1 in 44	1 in 290
European (Finnish)	~27k	1 in 190	1 in 2,100
Admixed American	~22k	1 in 51	1 in 260
African / African American	~21k	1 in 45	1 in 510
East Asian	~20k	1 in 47	1 in 520
Ashkenazi Jewish	~13k	1 in 120	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 36	1 in 400

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.