SEMA6B

Chr 19

semaphorin 6B

Also known as: EPM11, SEM-SEMA-Y, SEM-SEMA-Z, SEMA-VIB, SEMAN, semaZ

NCBI Gene: 10501 ENSG00000167680 UniProt: Q9H3T3

The protein is a transmembrane semaphorin that guides axon development in both peripheral and central nervous systems. Gain-of-function mutations cause progressive myoclonic epilepsy type 11 with autosomal dominant inheritance. The pathogenic mechanism involves abnormal neuronal connectivity due to disrupted axonal guidance signaling.

ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a member of the semaphorin family, a group of proteins characterized by the presence of a conserved semaphorin (sema) domain. Whereas some semaphorins are transmembrane proteins, others are secreted. Semaphorins play a major role in axon guidance. The protein encoded by this gene may be involved in both peripheral and central nervous system development. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEpilepsy, progressive myoclonic 11

Clinical highlights

Gene-disease validity (ClinGen)

progressive myoclonus epilepsy · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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