Gene Gene information from NCBI Gene database.
Entrez ID 3662
Gene name Interferon regulatory factor 4
Gene symbol IRF4
Synonyms (NCBI Gene)
IMD131LSIRFMUM1NF-EM5SHEP8
Chromosome 6
Chromosome location 6p25.3
Summary The protein encoded by this gene belongs to the IRF (interferon regulatory factor) family of transcription factors, characterized by an unique tryptophan pentad repeat DNA-binding domain. The IRFs are important in the regulation of interferons in response
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs12203592 C>T Affects Intron variant
miRNA miRNA information provided by mirtarbase database.
352
miRTarBase ID miRNA Experiments Reference
MIRT004534 hsa-miR-125b-5p qRT-PCRLuciferase reporter assay 20497960
MIRT504380 hsa-miR-574-3p HITS-CLIP 21572407
MIRT504379 hsa-miR-3943 HITS-CLIP 21572407
MIRT504378 hsa-miR-1324 HITS-CLIP 21572407
MIRT504377 hsa-miR-1199-5p HITS-CLIP 21572407
Transcription factors Transcription factors information provided by TRRUST V2 database.
5
Transcription factor Regulation Reference
BCL6 Repression 10601358
CEBPB Activation 19717648
NFKB1 Activation 17018379
RELA Activation 17018379
STAT6 Unknown 10601358
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
54
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000786 Component Nucleosome IEA
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 IDA 12374808
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601900 6119 ENSG00000137265
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15306
Protein name Interferon regulatory factor 4 (IRF-4) (Lymphocyte-specific interferon regulatory factor) (LSIRF) (Multiple myeloma oncogene 1) (NF-EM5)
Protein function Transcriptional activator. Binds to the interferon-stimulated response element (ISRE) of the MHC class I promoter. Binds the immunoglobulin lambda light chain enhancer, together with PU.1. Probably plays a role in ISRE-targeted signal transducti
PDB 2DLL , 6TD4 , 7JM4 , 7O56 , 7OGS , 7OOT , 7RH2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00605 IRF 23 128 Interferon regulatory factor transcription factor Domain
PF10401 IRF-3 249 418 Interferon-regulatory factor 3 Family
Tissue specificity TISSUE SPECIFICITY: Lymphoid cells.
Sequence
Sequence length 451
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Th17 cell differentiation   Interleukin-4 and Interleukin-13 signaling
Interferon gamma signaling
Interferon alpha/beta signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
90
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
Immunodeficiency 131 Pathogenic rs2480826321, rs2480811054 RCV005208216
RCV005208218
★★★★☆
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
ANDROGENETIC ALOPECIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE GWAS catalog
★★☆☆☆
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
Acquired Hypogammaglobulinemia Common Variable Immunodeficiency BEFREE 26276871
★☆☆☆☆
Found in Text Mining only
Actinic keratosis Actinic keratosis BEFREE 25724930
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 23977280
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 11299818
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma GWASCAT_DG 28604730
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 28849037
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 18165800, 18815567, 23252516, 24875472, 25640395, 26414904, 31012208
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 19804451, 21114485, 23647062
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 10720141, 11749693, 11846984, 12360402, 17138822, 21680528, 28910419, 29540473, 29684346, 30057145
★☆☆☆☆
Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia LHGDN 11749693
★☆☆☆☆
Found in Text Mining only