OS9

Chr 12

OS9 endoplasmic reticulum lectin

Also known as: ERLEC2, OS-9

NCBI Gene: 10956ENSG00000135506UniProt: Q13438OMIM: 609677

This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.78
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.78LOEUF
pLI 0.000
Z-score 2.61
OE 0.54 (0.38–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.05Z-score
OE missense 0.85 (0.78–0.93)
343 obs / 402.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.38–0.78)
0≤0.351.4
Missense OE?0.85 (0.78–0.93)
0≤0.61.4
Synonymous OE?0.84
0≤1.21.6
LoF obs/exp: 20 / 37.1Missense obs/exp: 343 / 402.2Syn Z: 1.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

OS9 · 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