SEMA4A

This gene encodes a member of the semaphorin family of soluble and transmembrane proteins. Semaphorins are involved in numerous functions, including axon guidance, morphogenesis, carcinogenesis, and immunomodulation. The encoded protein is a single-pass type I membrane protein containing an immunoglobulin-like C2-type domain, a PSI domain and a sema domain. It inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons. It is an activator of T-cell-mediated immunity and suppresses vascular endothelial growth factor (VEGF)-mediated endothelial cell migration and proliferation in vitro and angiogenesis in vivo. Mutations in this gene are associated with retinal degenerative diseases including retinitis pigmentosa type 35 (RP35) and cone-rod dystrophy type 10 (CORD10). Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

Semaphorin 4A

Cell surface receptor for PLXNB1, PLXNB2, PLXNB3 and PLXND1 that plays an important role in cell-cell signaling (By similarity).
Regulates glutamatergic and GABAergic synapse development (By similarity).
Promotes the development of inhibitory synapses in a PLXNB1-dependent manner and promotes the development of excitatory synapses in a PLXNB2-dependent manner (By similarity).
Plays a role in priming antigen-specific T-cells, promotes differentiation of Th1 T-helper cells, and thereby contributes to adaptive immunity (By similarity).
Promotes phosphorylation of TIMD2 (By similarity).
Inhibits angiogenesis (By similarity).
Promotes axon growth cone collapse (By similarity).
Inhibits axonal extension by providing local signals to specify territories inaccessible for growing axons (By similarity).

Biological Process angiogenesisIEA:UniProtKB-KW
Biological Process axon guidanceManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative chemotaxisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process negative regulation of angiogenesisIEA:Ensembl
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 positive regulation of excitatory synapse assemblyISS:UniProtKB
Biological Process positive regulation of inhibitory synapse assemblyISS:UniProtKB
Biological Process regulation of cell shapeIEA:Ensembl
Biological Process regulation of endothelial cell migrationIEA:Ensembl
Biological Process semaphorin-plexin signaling pathwayManual Assertion Based On ExperimentIBA:GO_Central
Biological Process T-helper 1 cell differentiationIEA:Ensembl

Cell membrane

Retinitis pigmentosa 35 (RP35):
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Cone-rod dystrophy 10 (CORD10):
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Extracellular: 33-683
Helical: 684-704
Cytoplasmic: 705-761