Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3662
Gene name Gene Name - the full gene name approved by the HGNC.
Interferon regulatory factor 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRF4
Synonyms (NCBI Gene) Gene synonyms aliases
IMD131, LSIRF, MUM1, NF-EM5, SHEP8
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p25.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs12203592 C>T Affects Intron variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004534 hsa-miR-125b-5p qRT-PCR, Luciferase 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 factor Regulation Reference
BCL6 Repression 10601358
CEBPB Activation 19717648
NFKB1 Activation 17018379
RELA Activation 17018379
STAT6 Unknown 10601358
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601900 6119 ENSG00000137265
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Actinic keratosis Actinic keratosis N/A N/A GWAS
Alopecia Areata Alopecia areata N/A N/A GWAS
Asthma Asthma (childhood onset), Asthma onset (childhood vs adult), Age of onset of childhood onset asthma N/A N/A GWAS
Carcinoma Basal cell carcinoma, Squamous cell carcinoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
3 Hydroxy 3 Methylglutaryl CoA Lyase Deficiency Associate 21114485
Abortion Spontaneous Stimulate 37035756
Acquired Immunodeficiency Syndrome Associate 31570354
Agammaglobulinemia Associate 36917008
Arthralgia Stimulate 29720240
Arthritis Stimulate 29720240
Arthritis Rheumatoid Associate 24213554, 27111665, 28706201, 33004899
Arthritis Rheumatoid Stimulate 29720240, 30666255
Asthma Stimulate 30087444
Asthma Associate 36012391