SPON2

Chr 4

spondin 2

ENSG00000159674UniProt: Q9BUD6

Cell adhesion protein that promotes adhesion and outgrowth of hippocampal embryonic neurons. Binds directly to bacteria and their components and functions as an opsonin for macrophage phagocytosis of bacteria. Essential in the initiation of the innate immune response and represents a unique pattern-recognition molecule in the ECM for microbial pathogens (By similarity). Binds bacterial lipopolysaccharide (LPS)

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0
Active trials
27
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
1.89
LOEUF
—
Mechanism
Clinical Summary— SPON2
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.89LOEUF
pLI 0.000
Z-score -1.43
OE 1.42 (0.98–1.89)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.81Z-score
OE missense 1.16 (1.04–1.29)
233 obs / 200.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.42 (0.98–1.89)
0≤0.351.4
Missense OE1.16 (1.04–1.29)
0≤0.61.4
Synonymous OE1.23
0≤1.21.6
LoF obs/exp: 19 / 13.3Missense obs/exp: 233 / 200.7Syn Z: -1.79

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SPON2 · protein map & ClinVar variants

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

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
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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