SEMA4C
Chr 2semaphorin 4C
Also known as: M-SEMA-F, SEMACL1, SEMAF, SEMAI
The SEMA4C protein is a cell surface receptor that regulates brain development, axon guidance, and cell migration through downstream signaling pathways including RHOA activation and stress-activated MAPK cascade. Mutations cause autosomal dominant developmental delays, intellectual disability, and behavioral abnormalities with childhood onset. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.12), indicating intolerance to protein-disrupting mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SEMA4C · 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