Aliases for IRF9 Gene

Aliases for IRF9 Gene

  • Interferon Regulatory Factor 9 2 3 4 5
  • Interferon-Stimulated Transcription Factor 3, Gamma (48kD) 2 3
  • Interferon-Stimulated Transcription Factor 3, Gamma 48kDa 2 3
  • IFN-Alpha-Responsive Transcription Factor Subunit 3 4
  • Transcriptional Regulator ISGF3 Subunit Gamma 3 4
  • Interferon-Stimulated Gene Factor 3 Gamma 3 4
  • ISGF3 P48 Subunit 3 4
  • ISGF-3 Gamma 3 4
  • ISGF3G 3 4
  • IRF-9 3 4
  • ISGF3 3
  • IRF9 5
  • P48 3

External Ids for IRF9 Gene

Previous HGNC Symbols for IRF9 Gene

  • ISGF3G

Previous GeneCards Identifiers for IRF9 Gene

  • GC14P023702
  • GC14P023690
  • GC14P024630
  • GC14P004745

Summaries for IRF9 Gene

GeneCards Summary for IRF9 Gene

IRF9 (Interferon Regulatory Factor 9) is a Protein Coding gene. Diseases associated with IRF9 include Immunodeficiency 65 Viral Infections and Lymphocytic Choriomeningitis. Among its related pathways are Interferon Pathway and JAK-STAT signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is IRF8.

UniProtKB/Swiss-Prot Summary for IRF9 Gene

  • 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 to tyrosine phosphorylation of STAT1 and STAT2. IRF9/ISGF3G associates with the phosphorylated STAT1:STAT2 dimer to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state.

Gene Wiki entry for IRF9 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRF9 Gene

Genomics for IRF9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IRF9 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J024159 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.3 283 4 SP1 HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 REST ZNF629 TFE3 RNF31 HSALNG0100102 IRF9 RNA5SP383 KHNYN LOC102724814 TM9SF1 ENSG00000259321 NGDN TINF2
GH14J024163 Promoter 0.5 EPDnew 600.7 +2.6 2616 0.1 PRDM10 POLR2A IRF9 REC8 ENSG00000259529
GH14J024166 Promoter 0.4 EPDnew 600.7 +4.9 4860 0.1 POLR2A IRF9 REC8 ENSG00000259529
GH14J024091 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.4 -67.6 -67618 6.5 CEBPG SP1 HNRNPL GATAD2A CTCF ATF7 PRDM10 REST TFE3 SOX13 HSALNG0100088 PCK2 NGDN ACIN1 RNA5SP383 KHNYN RNF31 ENSG00000259321 IPO4 NYNRIN
GH14J024113 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.4 -46.3 -46268 3.6 BRCA1 SP1 HNRNPL CREB1 GATAD2A ATF7 ZNF629 PRDM10 REST TFE3 DCAF11 NONHSAG014521.2 NRL piR-39858-164 TM9SF1 RNF31 NGDN NFATC4 KHNYN IPO4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRF9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRF9

Top Transcription factor binding sites by QIAGEN in the IRF9 gene promoter:
  • AML1a
  • STAT3

Genomic Locations for IRF9 Gene

Genomic Locations for IRF9 Gene
chr14:24,161,265-24,166,565
(GRCh38/hg38)
Size:
5,301 bases
Orientation:
Plus strand
chr14:24,630,262-24,635,774
(GRCh37/hg19)
Size:
5,513 bases
Orientation:
Plus strand

Genomic View for IRF9 Gene

Genes around IRF9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRF9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRF9 Gene

Proteins for IRF9 Gene

  • Protein details for IRF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00978-IRF9_HUMAN
    Recommended name:
    Interferon regulatory factor 9
    Protein Accession:
    Q00978
    Secondary Accessions:
    • D3DS61

    Protein attributes for IRF9 Gene

    Size:
    393 amino acids
    Molecular mass:
    43696 Da
    Quaternary structure:
    • Interacts with STAT2 in the cytoplasm. Forms the interferon-stimulated gene factor 3 complex (ISGF3) with the heterodimer STAT1:STAT2; upon stimulation.

neXtProt entry for IRF9 Gene

Post-translational modifications for IRF9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IRF9 Gene

No data available for DME Specific Peptides for IRF9 Gene

Domains & Families for IRF9 Gene

Gene Families for IRF9 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for IRF9 Gene

Suggested Antigen Peptide Sequences for IRF9 Gene

GenScript: Design optimal peptide antigens:
  • Transcriptional regulator ISGF3 subunit gamma (IRF9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q00978

UniProtKB/Swiss-Prot:

IRF9_HUMAN :
  • Belongs to the IRF family.
Family:
  • Belongs to the IRF family.
genes like me logo Genes that share domains with IRF9: view

Function for IRF9 Gene

Molecular function for IRF9 Gene

UniProtKB/Swiss-Prot 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 to tyrosine phosphorylation of STAT1 and STAT2. IRF9/ISGF3G associates with the phosphorylated STAT1:STAT2 dimer to form a complex termed ISGF3 transcription factor, that enters the nucleus. ISGF3 binds to the IFN stimulated response element (ISRE) to activate the transcription of interferon stimulated genes, which drive the cell in an antiviral state.
UniProtKB/Swiss-Prot Induction:
By IFN-alpha and IFNB1/IFN-beta.

Phenotypes From GWAS Catalog for IRF9 Gene

Gene Ontology (GO) - Molecular Function for IRF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IMP 24882218
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA,TAS 1630447
GO:0005515 protein binding IEA,IPI 17923090
genes like me logo Genes that share ontologies with IRF9: view
genes like me logo Genes that share phenotypes with IRF9: view

Animal Models for IRF9 Gene

MGI Knock Outs for IRF9:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF9

Clone Products

  • Addgene plasmids for IRF9

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IRF9 Gene

Localization for IRF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRF9 Gene

Cytoplasm. Nucleus. Note=Translocated into the nucleus upon activation by IFN-alpha/beta.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRF9 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IRF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus TAS,IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 1630447
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with IRF9: view

Pathways & Interactions for IRF9 Gene

genes like me logo Genes that share pathways with IRF9: view

Pathways by source for IRF9 Gene

2 GeneGo (Thomson Reuters) pathways for IRF9 Gene
  • Immune response IFN alpha/beta signaling pathway
  • Immune response IFN gamma signaling pathway
1 R&D Systems pathway for IRF9 Gene
2 Qiagen pathways for IRF9 Gene
  • Interferon Pathway
  • JAK-STAT Pathway
1 GeneTex pathway for IRF9 Gene

SIGNOR curated interactions for IRF9 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for IRF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0006366 transcription by RNA polymerase II TAS 1630447
GO:0007166 cell surface receptor signaling pathway TAS 1630447
genes like me logo Genes that share ontologies with IRF9: view

Drugs & Compounds for IRF9 Gene

(3) Drugs for IRF9 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for IRF9 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with IRF9: view

Transcripts for IRF9 Gene

mRNA/cDNA for IRF9 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF9

Clone Products

  • Addgene plasmids for IRF9

Alternative Splicing Database (ASD) splice patterns (SP) for IRF9 Gene

No ASD Table

Relevant External Links for IRF9 Gene

GeneLoc Exon Structure for
IRF9

Expression for IRF9 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IRF9 Gene

mRNA differential expression in normal tissues according to GTEx for IRF9 Gene

This gene is overexpressed in Whole Blood (x5.3).

Protein differential expression in normal tissues from HIPED for IRF9 Gene

This gene is overexpressed in Heart (20.7), Spleen (10.2), Lymph node (7.3), and Breast (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IRF9 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRF9

SOURCE GeneReport for Unigene cluster for IRF9 Gene:

Hs.1706

Evidence on tissue expression from TISSUES for IRF9 Gene

  • Nervous system(3.7)
  • Spleen(3.4)
  • Lymph node(3.3)
  • Skin(3)
  • Intestine(3)
  • Lung(3)
  • Bone marrow(3)
  • Liver(2.9)
  • Kidney(2.9)
  • Blood(2.9)
  • Stomach(2.7)
  • Heart(2.6)
  • Muscle(2.4)
  • Pancreas(2.1)
  • Thyroid gland(2.1)
genes like me logo Genes that share expression patterns with IRF9: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for IRF9 Gene

Orthologs for IRF9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IRF9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IRF9 30 31
  • 99.15 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IRF9 30 31
  • 83.84 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IRF9 30
  • 83.38 (n)
ISGF3G 31
  • 65 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Irf9 30
  • 78.44 (n)
Mouse
(Mus musculus)
Mammalia Irf9 30 17 31
  • 77.81 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IRF9 31
  • 54 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IRF10 31
  • 31 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 37 (a)
OneToMany
-- 31
  • 27 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100487158 30
  • 49.16 (n)
Zebrafish
(Danio rerio)
Actinopterygii irf9 30 31
  • 52.66 (n)
OneToOne
Dr.12308 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 18 (a)
OneToMany
Species where no ortholog for IRF9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IRF9 Gene

ENSEMBL:
Gene Tree for IRF9 (if available)
TreeFam:
Gene Tree for IRF9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IRF9: view image

Paralogs for IRF9 Gene

Paralogs for IRF9 Gene

(7) SIMAP similar genes for IRF9 Gene using alignment to 6 proteins:

  • IRF9_HUMAN
  • H0YMB0_HUMAN
  • H0YMB6_HUMAN
  • H0YNM9_HUMAN
  • H0YNP4_HUMAN
  • H7BXP4_HUMAN

Pseudogenes.org Pseudogenes for IRF9 Gene

genes like me logo Genes that share paralogs with IRF9: view

Variants for IRF9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRF9 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
694057 Risk Factor: IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS 24,163,960(+) G/T SPLICE_DONOR_VARIANT
694058 Risk Factor: IMMUNODEFICIENCY 65, SUSCEPTIBILITY TO VIRAL INFECTIONS 24,164,955(+) G/A MISSENSE_VARIANT
732996 Benign: not provided 24,163,394(+) G/C MISSENSE_VARIANT
776823 Benign: not provided 24,162,195(+) G/A SYNONYMOUS_VARIANT
776824 Benign: not provided 24,162,243(+) A/T SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for IRF9 Gene

Structural Variations from Database of Genomic Variants (DGV) for IRF9 Gene

Variant ID Type Subtype PubMed ID
nsv7249 OTHER inversion 18451855

Variation tolerance for IRF9 Gene

Residual Variation Intolerance Score: 26.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.16; 23.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRF9 Gene

Human Gene Mutation Database (HGMD)
IRF9
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRF9

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRF9 Gene

Disorders for IRF9 Gene

MalaCards: The human disease database

(10) MalaCards diseases for IRF9 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
immunodeficiency 65 viral infections
  • immunodeficiency 65, susceptibility to viral infections
lymphocytic choriomeningitis
  • lcm
hepatitis c
  • chronic hepatitis c
measles
  • morbilli
hepatitis
  • hepatitis a
- elite association - COSMIC cancer census association via MalaCards
Search IRF9 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IRF9_HUMAN
  • Immunodeficiency 65 (IMD65) [MIM:618648]: An autosomal recessive immunologic disorder characterized by recurrent viral infections from early infancy. Clinical consequences are pneumonia, bronchiectasis, and septic shock. Affected individuals have lymphopenia or hypogammaglobulinemia, particularly during infection, and impaired cellular type I interferon response. Patients may have adverse response to vaccination with live attenuated vaccines. {ECO:0000269 PubMed:30143481, ECO:0000269 PubMed:30826365}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for IRF9

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with IRF9: view

No data available for Genatlas for IRF9 Gene

Publications for IRF9 Gene

  1. Subunit of an alpha-interferon-responsive transcription factor is related to interferon regulatory factor and Myb families of DNA-binding proteins. (PMID: 1630447) Veals SA … Levy DE (Molecular and cellular biology 1992) 2 3 4 23
  2. Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency. (PMID: 30143481) Hernandez N … Casanova JL (The Journal of experimental medicine 2018) 3 4
  3. Hepatitis B viraemia: its heritability and association with common genetic variation in the interferon gamma signalling pathway. (PMID: 20980339) Huang HH … Yu MW (Gut 2011) 3 41
  4. Interleukin-9 polymorphism in infants with respiratory syncytial virus infection: an opposite effect in boys and girls. (PMID: 20503287) Schuurhof A … Janssen R (Pediatric pulmonology 2010) 3 41
  5. [A novel molecular mechanism of interferon alpha-regulated expression of retinoic acid-induced gene G]. (PMID: 20403236) Lou YJ … Tong JH (Zhonghua zhong liu za zhi [Chinese journal of oncology] 2010) 3 23

Products for IRF9 Gene

  • Signalway ELISA kits for IRF9
  • Signalway Proteins for IRF9

Sources for IRF9 Gene