TSPAN12 tetraspanin 12
Gene ID: 23554, updated on 2-Nov-2024Gene type: protein coding
Also known as: EVR5; NET2; NET-2; TM4SF12
- See all available tests in GTR for this gene
- Go to complete Gene record for TSPAN12
- Go to Variation Viewer for TSPAN12 variants
Summary
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Exudative vitreoretinopathy 5 | See labs |
Genomic context
- Location:
- 7q31.31
- Sequence:
- Chromosome: 7; NC_000007.14 (120787320..120858335, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TSPAN12 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
- TSPAN12 @ LOVD
- Variation ViewerRelated Variants
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