SPACA9

Chr 9

sperm acrosome associated 9

Also known as: C9orf9, Mast

NCBI Gene: 11092ENSG00000165698UniProt: Q96E40OMIM: 618552

The protein is a microtubule inner protein that cross-links the lumen of axonemal doublet microtubules in cilia and flagella, essential for proper axoneme assembly in multiciliated respiratory cells and sperm. Mutations cause primary ciliary dyskinesia, affecting respiratory function and fertility. Inheritance is autosomal recessive, and the gene shows tolerance to loss-of-function variants.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.62
Clinical Summary— SPACA9
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.62LOEUF
pLI 0.000
Z-score 0.30
OE 0.89 (0.50–1.62)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.36Z-score
OE missense 1.10 (0.94–1.28)
118 obs / 107.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.89 (0.50–1.62)
0≤0.351.4
Missense OE1.10 (0.94–1.28)
0≤0.61.4
Synonymous OE1.07
0≤1.21.6
LoF obs/exp: 7 / 7.9Missense obs/exp: 118 / 107.4Syn Z: -0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPACA9 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules.
Gui M et al.·Proc Natl Acad Sci U S A
2022Open Access
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients