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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
IMD131
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:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 12374808
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA 21873635
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Basal cell neoplasm Basal Cell Neoplasm, Basal Cell Cancer rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813 31174203, 27539887
Carcinoma Basal cell carcinoma, Squamous cell carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 31174203, 27539887, 26829030
Hypothyroidism Hypothyroidism rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912
View all (22 more)
30595370
Lung adenocarcinoma Adenocarcinoma of lung (disorder) rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370
View all (5 more)
28604730
Unknown
Disease term Disease name Evidence References Source
Asthma Asthma, Childhood asthma 30929738, 31036433 ClinVar, GWAS
Celiac disease Celiac Disease, Celiac disease 22057235 ClinVar, GWAS
Nasopharyngeal carcinoma Nasopharyngeal carcinoma These data suggest that KAT7 can contribute NPC cell growth and survival through up-regulation of NPC-essential genes. 20512145 ClinVar, CBGDA
Alopecia Areata Alopecia Areata GWAS
Associations from Text Mining
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