SEMA4A semaphorin 4A
Gene ID: 64218, updated on 10-Oct-2024Gene type: protein coding
Also known as: RP35; SEMB; SEMAB; CORD10
- See all available tests in GTR for this gene
- Go to complete Gene record for SEMA4A
- Go to Variation Viewer for SEMA4A variants
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.[provided by RefSeq, Sep 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cone-rod dystrophy 10 | See labs |
| Retinitis pigmentosa 35 | See labs |
Genomic context
- Location:
- 1q22
- Sequence:
- Chromosome: 1; NC_000001.11 (156147373..156177744)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SEMA4A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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
- SEMA4A @ LOVD
- Variation ViewerRelated Variants
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