Entrez gene ID | | 64218 |
Official gene symbol | | SEMA4A |
Full name | | sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A |
Aliases | | ,CORD10,FLJ12287,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. |
Location | | Chromosome: 1 Locus: 1q22 |
Gene position | | 156119735 - 156147542 Map Viewer |
Gene orientation | | plus |
Gene size | | 27808 bp |
Gene sequence |
| |
OMIM ID | | 607292 |
|