Gene Gene information from NCBI Gene database.
Entrez ID 3661
Gene name Interferon regulatory factor 3
Gene symbol IRF3
Synonyms (NCBI Gene)
IIAE7
Chromosome 19
Chromosome location 19q13.33
Summary This gene encodes a member of the interferon regulatory transcription factor (IRF) family. The encoded protein is found in an inactive cytoplasmic form that upon serine/threonine phosphorylation forms a complex with CREBBP. This complex translocates to th
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs143769046 C>T Likely-benign, risk-factor Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs750526659 C>G,T Risk-factor Coding sequence variant, non coding transcript variant, intron variant, missense variant
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
E2F1 Repression 21225257;22464952
IRF4 Repression 19955181
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
95
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000785 Component Chromatin IDA 8524823
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603734 6118 ENSG00000126456
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q14653
Protein name Interferon regulatory factor 3 (IRF-3)
Protein function Key transcriptional regulator of type I interferon (IFN)-dependent immune responses which plays a critical role in the innate immune response against DNA and RNA viruses (PubMed:22394562, PubMed:24049179, PubMed:25636800, PubMed:27302953, PubMed
PDB 1J2F , 1QWT , 1T2K , 1ZOQ , 2O61 , 2O6G , 2PI0 , 3A77 , 3QU6 , 5JEJ , 5JEK , 5JEL , 5JEM , 5JEO , 5JER , 6SIV , 6SJA , 7JFL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00605 IRF 7 110 Interferon regulatory factor transcription factor Domain
PF10401 IRF-3 201 380 Interferon-regulatory factor 3 Family
Tissue specificity TISSUE SPECIFICITY: Expressed constitutively in a variety of tissues. {ECO:0000269|PubMed:8524823}.
Sequence
Sequence length 427
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
25
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs199550479 RCV005931081
Colon adenocarcinoma Uncertain significance rs199550479 RCV005931080
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7 risk factor; Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign rs750526659, rs768444988, rs143769046, rs74980832 RCV000190468
RCV005399206
RCV000585897
RCV002479116
IRF3-related disorder risk factor; Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity rs750526659, rs2513776130, rs138165581, rs186551702, rs778251209, rs11554833, rs762507542, rs1038455953, rs149842990, rs137902370, rs143769046, rs968457, rs74980832 RCV004755803
RCV003392940
RCV003921750
RCV003906865
RCV003959536
RCV003931800
RCV003927051
RCV003924420
RCV003934705
RCV003976505
RCV003925756
RCV003970810
RCV003905853
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute On Chronic Liver Failure Associate 26173605
Adenocarcinoma of Lung Associate 28566697
Alzheimer Disease Stimulate 30076830
Alzheimer Disease Associate 39753133
Asthma Associate 24475887
Atherosclerosis Associate 20154210
Autoimmune Diseases Associate 26794091
Biliary Atresia Associate 29070776
Breast Neoplasms Associate 31287789
Carcinogenesis Associate 23449805, 28566697