STING1 stimulator of interferon response cGAMP interactor 1
Gene ID: 340061, updated on 22-Apr-2024Gene type: protein coding
Also known as: ERIS; MITA; MPYS; SAVI; NET23; STING; hMITA; hSTING; TMEM173; STING-beta
- See all available tests in GTR for this gene
- Go to complete Gene record for STING1
- Go to Variation Viewer for STING1 variants
Summary
This gene encodes a five transmembrane protein that functions as a major regulator of the innate immune response to viral and bacterial infections. The encoded protein is a pattern recognition receptor that detects cytosolic nucleic acids and transmits signals that activate type I interferon responses. The encoded protein has also been shown to play a role in apoptotic signaling by associating with type II major histocompatibility complex. Mutations in this gene are the cause of infantile-onset STING-associated vasculopathy. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. GeneReviews: Not available | |
| Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. GeneReviews: Not available | |
| STING-associated vasculopathy with onset in infancy | See labs |
Genomic context
- Location:
- 5q31.2
- Sequence:
- Chromosome: 5; NC_000005.10 (139475533..139482758, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for STING1 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
- Variation ViewerRelated Variants
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