Entrez Gene ID | 10512 |
---|---|
Official Gene Symbol | SEMA3C (GeneCards) |
Full name | semaphorin 3C |
Location | 7q21.11 |
Other ids | Vega : OTTHUMG00000023447 MIM : 602645 HGNC : HGNC:10725 Ensembl : ENSG00000075223 |
Other names | SemE, SEMAE |
Summary | This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017] |
Found 8 variants in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
10493 | 10512 | SEMA3C | 7 | 80721631 | 80721631 | Asymptomatic | HiSeq X Ten |
10878 | 10512 | SEMA3C | 7 | 80618717 | 80618717 | Asymptomatic | HiSeq X Ten |
11065 | 10512 | SEMA3C | 7 | 80743535 | 80743535 | Asymptomatic | HiSeq X Ten |
11434 | 10512 | SEMA3C | 7 | 80478953 | 80478953 | Cockayne syndrome | HiSeq X Ten |
11598 | 10512 | SEMA3C | 7 | 80673470 | 80673470 | Xeroderma Pigmentosum | HiSeq X Ten |
11599 | 10512 | SEMA3C | 7 | 80863703 | 80863703 | Xeroderma Pigmentosum | HiSeq X Ten |
23213 | 10512 | SEMA3C | 7 | 80871798 | 80871798 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |
26412 | 10512 | SEMA3C | 7 | 80607196 | 80607196 | Asymptomatic | HiSeq X Ten Single cell Sequencing Cell cloning |