SEMA6B

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]

Full Name

sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B

Function

Functions as a cell surface repellent for mossy fibers of developping neurons in the hippocampus where it plays a role in axon guidance. May function through the PLXNA4 receptor expressed by mossy cell axons.
(Microbial infection) Acts as a receptor for P.sordellii toxin TcsL in the in the vascular endothelium.

Biological Process

Biological Process axon guidanceISS:UniProtKB
Biological Process central nervous system developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process hippocampus developmentISS:UniProtKB
Biological Process negative chemotaxisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of axon extension involved in axon guidanceManual Assertion Based On ExperimentIBA:GO_Central
Biological Process neural crest cell migrationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of cell migrationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process semaphorin-plexin signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Cell membrane

Involvement in disease

Epilepsy, progressive myoclonic 11 (EPM11):
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM11 is an autosomal dominant form. Clinical features include normal or mildly delayed early development, developmental regression after seizures onset, inability to walk, severely impaired intellectual development, poor or absent speech, spasticity, ataxia, and intention tremor. Brain imaging shows cerebellar atrophy in some patients.

Topology

Extracellular: 26-603
Helical: 604-624
Cytoplasmic: 625-888