Gene: SEMA4A

Alternate names for this Gene: CORD10|RP35|SEMAB|SEMB

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q22

Description of this Gene: semaphorin 4A

Type of Gene: protein-coding

rs267607033 in SEMA4A gene and CONE-ROD DYSTROPHY 10 PMID 16199541 2006 Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.

rs267607033 in SEMA4A gene and RETINITIS PIGMENTOSA 35 PMID 16199541 2006 Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases.

PMID 22956603 2012 SEMA4A mutations lead to susceptibility to light irradiation, oxidative stress, and ER stress in retinal pigment epithelial cells.

rs76719272 in SEMA4A gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.