RIGI RNA sensor RIG-I
Gene ID: 23586, updated on 16-Apr-2024Gene type: protein coding
Also known as: RIG1; DDX58; RIG-I; RLR-1; SGMRT2
- See all available tests in GTR for this gene
- Go to complete Gene record for RIGI
- Go to Variation Viewer for RIGI variants
Summary
DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of the antiviral innate immune response. Mutations in this gene are associated with Singleton-Merten syndrome 2. [provided by RefSeq, Aug 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Singleton-Merten syndrome 2 | See labs |
Genomic context
- Location:
- 9p21.1
- Sequence:
- Chromosome: 9; NC_000009.12 (32455302..32526196, complement)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for RIGI 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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