SEMA3E Gene

SEMA3E (Semaphorin 3E) is a protein-coding gene located on chromosome 7q21.11.The SEMA3E gene encodes a class 3 semaphorin.Several transcript variants have been found for the SEMA3E gene, encoding different isoforms.

The encoded protein plays an important role in signal transduction via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to retraction of cell processes. Promotes focal adhesion breakdown and inhibits endothelial cell adhesion to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. May downregulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation.

Semaphorins are a large family of conserved secreted and membrane-associated proteins that possess a semaphorin (sema) domain and a PSI domain (found in plexins, semaphorins, and integrins) in the N-terminal extracellular portion. Semaphorins serve as ligands for axon guidance via multimeric receptor complexes, some of which contain plexin proteins.

Based on sequence and structural similarities, semaphorins are divided into eight classes:

Invertebrates contain the classes 1 and 2

viruses the class V

Vertebrates classes 3-7.

Diseases associated with SEMA3E include:

• Charge syndrome (OMIM: 214800)
• and
• Hypogonadotropic hypogonadism 7 with or without anosmia (OMIM: 146110).

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5. Cariboni A et al (2015) Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome. J Clin Invest 125:2413-2428.