Alt. symbols: IMD39 | IRF7H | IRF7A | IRF7B | IRF7C

Approved name: interferon regulatory factor 7
Alt. names: interferon regulatory factor 7 | IRF7 | interferon regulatory factor 7G isoform | interferon regulatory factor7H

Location: 11p15.5: 612553 - 615983 (-)
Gene type: protein_coding, 17 transcripts.

Scores: LoFtool: 0.095300 | pLI: 0.00000033 | LOEUF: 1.568

HGNC: 6122

NCBI: 3665, RefSeq: NG_029106.1

Ensembl: ENSG00000185507.21

LRG_1313 | Status: public

OMIM: 605047

Expression | ProteinAtlas

IRF7 encodes a transcriptional regulator that plays critical role in the innate immune response against DNA and RNA viruses. IRF7 is required during both the early and late phases of IFN gene induction but is more critical for the late than for the early phase. It exists in an inactive form in the cytoplasm of uninfected cells and can be activated by viral infection, double-stranded RNA (dsRNA), or toll-like receptor (TLR) signaling. This leads to phosphorylation by IKBKE and TBK1 kinases, which induces a conformational change, leading to its dimerization and nuclear localization where, along with other coactivators, it can activate transcription of type I IFN genes (IFN-alpha and IFN-beta) and IFN-stimulated genes (ISG) by binding to an interferon-stimulated response element (ISRE) in their promoters (PMID:17574024, 32972995). It can also induce transcription of ubiquitin hydrolase USP25 mRNA in response to lipopolysaccharide (LPS) or viral infection in a type I IFN-dependent manner. IRF7 also plays a role in regulating adaptive immune responses by inducing PSMB9/LMP2 expression, either directly or through induction of IRF1. It may also play roles in regulating EBV latency and the anti-tumor properties of primary macrophages (PMID: 11073981, 12374802, 15361868, 17404045).

Biallelic missense and nonsense mutations in IRF7 have been associated with autosomal recessive Immunodeficiency 39 [MIM:616345] featuring defective type I and III interferon (IFN) production and impaired IFN-mediated responses to influenzavirus infection. This has been described to cause life-threatening influenza infections in an otherwise healthy female child and male adult (PMID: 25814066, 31172279). [Load More]