SEMA3E

Chr 7

semaphorin 3E

Also known as: M-SEMAH, M-SemaK, SEMAH, coll-5

NCBI Gene: 9723 ENSG00000170381 UniProt: O15041 OMIM: 608166

Semaphorin 3E is a secreted axon guidance protein that signals through the PLXND1 receptor to regulate actin cytoskeleton reorganization, vascular patterning during development, and synaptic specificity. Mutations cause CHARGE syndrome, a multisystem disorder affecting the heart, eyes, ears, genitals, and nervous system with features typically apparent at birth. SEMA3E follows autosomal dominant inheritance and is intolerant to loss-of-function variants.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.68

LOEUF

Mechanism· predicted

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GeneReview available — SEMA3E