RSPO2
Chr 8ARR-spondin 2
The protein is a secreted ligand that activates canonical Wnt signaling by binding to LGR4-6 receptors and plays a crucial role in embryonic limb specification. Autosomal recessive mutations cause tetraamelia syndrome 2 (absence of all four limbs) and humerofemoral hypoplasia with radiotibial ray deficiency, representing severe limb malformation disorders. The gene shows tolerance to loss-of-function variants in the general population (low pLI), consistent with its recessive inheritance pattern.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RSPO2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools