SEMA5A

Chr 5

semaphorin 5A

Also known as: SEMAF, semF

NCBI Gene: 9037 ENSG00000112902 UniProt: Q13591 OMIM: 609297

The protein functions as a bifunctional axonal guidance cue during neural development, with attractive effects mediated by heparan sulfate proteoglycans and inhibitory effects through chondroitin sulfate proteoglycans. Mutations in this gene have been associated with autism spectrum disorders, following autosomal dominant inheritance. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant clinical effects.

OMIM ResearchSummary from RefSeq, UniProt

This gene belongs to the semaphorin gene family that encodes membrane proteins containing a semaphorin domain and several thrombospondin type-1 repeats. Members of this family are involved in axonal guidance during neural development. This gene has been implicated as an autism susceptibility gene.[provided by RefSeq, Jan 2010]

OMIM ResearchGenerating clinical summary…

Clinical highlights

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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.48

LOEUF

Multiple*

Mechanism· predicted