Gene Gene information from NCBI Gene database.
Entrez ID 10379
Gene name Interferon regulatory factor 9
Gene symbol IRF9
Synonyms (NCBI Gene)
IRF-9ISGF3ISGF3Gp48
Chromosome 14
Chromosome location 14q12
Summary This gene encodes a member of the interferon regulatory factor (IRF) family, a group of transcription factors with diverse roles, including virus-mediated activation of interferon, and modulation of cell growth, differentiation, apoptosis, and immune syst
SNPs SNP information provided by dbSNP.
2
SNP ID Visualize variation Clinical significance Consequence
rs1594389703 G>T Risk-factor Splice donor variant
rs1594390415 G>A Risk-factor Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
153
miRTarBase ID miRNA Experiments Reference
MIRT004628 hsa-miR-342-3p Review 20026422
MIRT020418 hsa-miR-106b-5p Microarray 17242205
MIRT190679 hsa-miR-373-3p ImmunoprecipitaionqRT-PCRLuciferase reporter assayWestern blot 25589644
MIRT190679 hsa-miR-373-3p ImmunoprecipitaionqRT-PCRLuciferase reporter assayWestern blot 25589644
MIRT1071465 hsa-miR-106a CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
BRCA1 Activation 12212615
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
29
GO ID Ontology Definition Evidence Reference
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
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IMP 24882218
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
147574 6131 ENSG00000213928
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q00978
Protein name Interferon regulatory factor 9 (IRF-9) (IFN-alpha-responsive transcription factor subunit) (ISGF3 p48 subunit) (Interferon-stimulated gene factor 3 gamma) (ISGF-3 gamma) (Transcriptional regulator ISGF3 subunit gamma)
Protein function Transcription factor that plays an essential role in anti-viral immunity. It mediates signaling by type I IFNs (IFN-alpha and IFN-beta). Following type I IFN binding to cell surface receptors, Jak kinases (TYK2 and JAK1) are activated, leading t
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00605 IRF 11 115 Interferon regulatory factor transcription factor Domain
PF10401 IRF-3 217 383 Interferon-regulatory factor 3 Family
Sequence
Sequence length 393
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Necroptosis
Osteoclast differentiation
Toll-like receptor signaling pathway
NOD-like receptor signaling pathway
C-type lectin receptor signaling pathway
JAK-STAT signaling pathway
Hepatitis C
Measles
Influenza A
Human papillomavirus infection
Kaposi sarcoma-associated herpesvirus infection
Herpes simplex virus 1 infection
Epstein-Barr virus infection
Coronavirus disease - COVID-19
Viral carcinogenesis
  Interferon gamma signaling
Interferon alpha/beta signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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)
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Immunodeficiency 65, susceptibility to viral infections Uncertain significance; risk factor ClinVar
ClinVar, Disgenet, GWAS catalog, HPO
ClinVar, Disgenet, GWAS catalog, HPO
ClinVar, Disgenet, GWAS catalog, HPO
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
IRF9-related disorder Likely benign; 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
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 10694514, 9186002
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 34918636 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 30728464
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 39234946 Stimulate
★☆☆☆☆
Found in Text Mining only
Breast adenocarcinoma Breast Adenocarcinoma BEFREE 11522652
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 11522652, 26081906
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 26081906 Inhibit
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35617355 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 10497156, 16948122 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 39457004 Associate
★☆☆☆☆
Found in Text Mining only