SEMA4C

Chr 2

semaphorin 4C

Also known as: M-SEMA-F, SEMACL1, SEMAF, SEMAI

NCBI Gene: 54910 ENSG00000168758 UniProt: Q9C0C4 OMIM: 604462

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.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable chemorepellent activity; neuropilin binding activity; and semaphorin receptor binding activity. Involved in muscle cell differentiation and positive regulation of stress-activated MAPK cascade. Located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.12

Clinical Summary— SEMA4C

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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