C1S

Chr 12

complement C1s

Also known as: EDSPD2

NCBI Gene: 716ENSG00000182326UniProt: P09871

This gene encodes a serine protease, which is a major constituent of the human complement subcomponent C1. C1s associates with two other complement components C1r and C1q in order to yield the first component of the serum complement system. Defects in this gene are the cause of selective C1s deficiency. [provided by RefSeq, Mar 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtComplement component C1s deficiency
UniProtEhlers-Danlos syndrome, periodontal type, 2
1
Active trials
115
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.60
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — C1S
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.60LOEUF
pLI 0.001
Z-score 3.28
OE 0.36 (0.23–0.60)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.56Z-score
OE missense 0.92 (0.84–1.00)
342 obs / 372.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.23–0.60)
0≤0.351.4
Missense OE?0.92 (0.84–1.00)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 11 / 30.5Missense obs/exp: 342 / 372.4Syn Z: -0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

C1S · protein map & ClinVar variants

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

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