SEMA3C semaphorin 3C
Gene ID: 10512, updated on 6-Oct-2024Gene type: protein coding
Also known as: SemE; SEMAE
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- Go to complete Gene record for SEMA3C
- Go to Variation Viewer for SEMA3C variants
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genome-wide association meta-analysis for total serum bilirubin levels. GeneReviews: Not available |
Genomic context
- Location:
- 7q21.11
- Sequence:
- Chromosome: 7; NC_000007.14 (80742538..80922389, complement)
- Total number of exons:
- 20
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for SEMA3C variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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