SPON2

Chr 4

spondin 2

Also known as: DIL-1, DIL1, M-SPONDIN, MINDIN

NCBI Gene: 10417ENSG00000159674UniProt: Q9BUD6OMIM: 605918

Predicted to enable antigen binding activity; lipopolysaccharide binding activity; and metal ion binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within several processes, including opsonization; positive regulation of cytokine production; and response to bacterium. Located in extracellular exosome. Biomarker of meningioma. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
39
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.89
LOEUF
—
Mechanism

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 OE?1.42 (0.98–1.89)
0≤0.351.4
Missense OE?1.16 (1.04–1.29)
0≤0.61.4
Synonymous OE?1.23
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.

Search ClinicalTrials.gov →

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