Gene Gene information from NCBI Gene database.
Entrez ID 23586
Gene name RNA sensor RIG-I
Gene symbol RIGI
Synonyms (NCBI Gene)
DDX58RIG-IRIG1RLR-1SGMRT2
Chromosome 9
Chromosome location 9p21.1
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs786204847 T>G Pathogenic Coding sequence variant, missense variant
rs786204848 C>A Pathogenic Coding sequence variant, missense variant
rs1064795754 A>G Likely-pathogenic Coding sequence variant, missense variant
rs1131691305 A>G Likely-pathogenic Coding sequence variant, missense variant
rs1587586052 T>A Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
403
miRTarBase ID miRNA Experiments Reference
MIRT437784 hsa-miR-10b-5p Luciferase reporter assay 25312779
MIRT440833 hsa-miR-218-5p HITS-CLIP 23212916
MIRT440833 hsa-miR-218-5p HITS-CLIP 23212916
MIRT734373 hsa-miR-579-3p ELISALuciferase reporter assayRNA-seqWestern blotting 32209695
MIRT734374 hsa-miR-221-3p ELISALuciferase reporter assayRNA-seqWestern blotting 32209695
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
86
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0002230 Process Positive regulation of defense response to virus by host IMP 19609254
GO:0002376 Process Immune system process IEA
GO:0002684 Process Positive regulation of immune system process IEA
GO:0002735 Process Positive regulation of myeloid dendritic cell cytokine production IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609631 19102 ENSG00000107201
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95786
Protein name Antiviral innate immune response receptor RIG-I (ATP-dependent RNA helicase DDX58) (EC 3.6.4.13) (DEAD box protein 58) (RIG-I-like receptor 1) (RLR-1) (RNA sensor RIG-I) (Retinoic acid-inducible gene 1 protein) (RIG-1) (Retinoic acid-inducible gene I prot
Protein function Innate immune receptor that senses cytoplasmic viral nucleic acids and activates a downstream signaling cascade leading to the production of type I interferons and pro-inflammatory cytokines (PubMed:15208624, PubMed:15708988, PubMed:16125763, Pu
PDB 2LWD , 2LWE , 2QFB , 2QFD , 2RMJ , 2YKG , 3LRN , 3LRR , 3NCU , 3OG8 , 3ZD6 , 3ZD7 , 4AY2 , 4BPB , 4NQK , 4ON9 , 4P4H , 5E3H , 5F98 , 5F9F , 5F9H , 6GPG , 6KYV , 7BAH , 7BAI , 7JL1 , 7JL3 , 7MK1 , 7TNX , 7TNY , 7TNZ , 7TO0 , 7TO1 , 7TO2 , 8DVR , 8DVS , 8DVU , 8G7T , 8G7U , 8G7V , 8SCZ , 8SD0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16739 CARD_2 1 93 Caspase recruitment domain Domain
PF16739 CARD_2 99 190 Caspase recruitment domain Domain
PF00270 DEAD 244 420 DEAD/DEAH box helicase Domain
PF18119 RIG-I_C 457 602 RIG-I receptor C-terminal domain Domain
PF00271 Helicase_C 609 734 Helicase conserved C-terminal domain Family
PF11648 RIG-I_C-RD 806 923 C-terminal domain of RIG-I Domain
Tissue specificity TISSUE SPECIFICITY: Present in vascular smooth cells (at protein level). {ECO:0000269|PubMed:15219805}.
Sequence
MTTEQRRSLQAFQDYIRKTLDPTYILSYMAPWFREEEVQYIQAEKNNKGPMEAATLFLKF
LLELQEEGWFRGFLDALDHAGYSGLYEAIESWD
FKKIEKLEEYRLLLKRLQPEFKTRIIP
TDIISDLSECLINQECEEILQICSTKGMMAGAEKLVECLLRSDKENWPKTLKLALEKERN
KFSELWIVEK
GIKDVETEDLEDKMETSDIQIFYQEDPECQNLSENSCPPSEVSDTNLYSP
FKPRNYQLELALPAMKGKNTIICAPTGCGKTFVSLLICEHHLKKFPQGQKGKVVFFANQI
PVYEQQKSVFSKYFERHGYRVTGISGATAENVPVEQIVENNDIIILTPQILVNNLKKGTI
PSLSIFTLMIFDECHNTSKQHPYNMIMFNYLDQKLGGSSGPLPQVIGLTASVGVGDAKNT

DEALDYICKLCASLDASVIATVKHNLEELEQVVYKPQKFFRKVESRISDKFKYIIAQLMR
DTESLAKRICKDLENLSQIQNREFGTQKYEQWIVTVQKACMVFQMPDKDEESRICKALFL
YTSHLRKYNDALIISEHARMKDALDYLKDFFSNVRAAGFDEIEQDLTQRFEEKLQELESV
SR
DPSNENPKLEDLCFILQEEYHLNPETITILFVKTRALVDALKNWIEGNPKLSFLKPGI
LTGRGKTNQNTGMTLPAQKCILDAFKASGDHNILIATSVADEGIDIAQCNLVILYEYVGN
VIKMIQTRGRGRAR
GSKCFLLTSNAGVIEKEQINMYKEKMMNDSILRLQTWDEAVFREKI
LHIQTHEKFIRDSQEKPKPVPDKENKKLLCRKCKALACYTADVRVIEECHYTVLGDAFKE
CFVSRPHPKPKQFSSFEKRAKIFCARQNCSHDWGIHVKYKTFEIPVIKIESFVVEDIATG
VQTLYSKWKDFHFEKIPFDPAEM
SK
Sequence length 925
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NF-kappa B signaling pathway
RIG-I-like receptor signaling pathway
Cytosolic DNA-sensing pathway
Hepatitis C
Hepatitis B
Measles
Influenza A
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
  ISG15 antiviral mechanism
DDX58/IFIH1-mediated induction of interferon-alpha/beta
Ub-specific processing proteases
Ovarian tumor domain proteases
OAS antiviral response
TRAF3-dependent IRF activation pathway
TRAF6 mediated IRF7 activation
TRAF6 mediated NF-kB activation
NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
Negative regulators of DDX58/IFIH1 signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
24
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
RIGI-related disorder Likely pathogenic rs2489331579 RCV003410480
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Singleton-Merten syndrome 2 Pathogenic; Likely pathogenic rs786204847, rs786204848, rs1587586052 RCV000169760
RCV000169761
RCV000988170
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult type dermatomyositis Dermatomyositis BEFREE 20015976, 24604766, 28738907, 31142372
★☆☆☆☆
Found in Text Mining only
AICARDI-GOUTIERES SYNDROME Aicardi Goutieres Syndrome BEFREE 26993858
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 26525917
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 28468914
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 25315416
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 29567028 Associate
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 29567028
★☆☆☆☆
Found in Text Mining only
Aortic Valve Calcification of Aortic valve disease Pubtator 25620203 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 18505427, 21337319 Associate
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 26399222 Associate
★☆☆☆☆
Found in Text Mining only