Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3663
Gene name Gene Name - the full gene name approved by the HGNC.
Interferon regulatory factor 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRF5
Synonyms (NCBI Gene) Gene synonyms aliases
SLEB10
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q32.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
SNP ID Visualize variation Clinical significance Consequence
rs2004640 T>G Pathogenic, risk-factor Genic upstream transcript variant, splice donor variant, intron variant
rs2070197 T>C Risk-factor 3 prime UTR variant
rs10954213 G>A Risk-factor 3 prime UTR variant
rs973851559 T>GG Risk-factor, pathogenic Intron variant, genic upstream transcript variant, splice donor variant
rs1432329681 T>- Risk-factor, pathogenic Intron variant, genic upstream transcript variant, splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT007158 hsa-miR-22-3p Luciferase reporter assay, qRT-PCR, Western blot 23303785
MIRT1071312 hsa-miR-1915 CLIP-seq
MIRT1071313 hsa-miR-296-3p CLIP-seq
MIRT1071314 hsa-miR-3074-3p CLIP-seq
MIRT1071315 hsa-miR-3174 CLIP-seq
Transcription factors
Transcription factor Regulation Reference
IRF3 Unknown 20483755
SP1 Activation 20127100
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:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IDA 25326418
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607218 6120 ENSG00000128604
Protein
UniProt ID Q13568
Protein name Interferon regulatory factor 5 (IRF-5)
Protein function Transcription factor that plays a critical role in innate immunity by activating expression of type I interferon (IFN) IFNA and INFB and inflammatory cytokines downstream of endolysosomal toll-like receptors TLR7, TLR8 and TLR9 (PubMed:11303025,
PDB 3DSH
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00605 IRF 16 121 Interferon regulatory factor transcription factor Domain
PF10401 IRF-3 247 431 Interferon-regulatory factor 3 Family
Sequence
MNQSIPVAPTPPRRVRLKPWLVAQVNSCQYPGLQWVNGEKKLFCIPWRHATRHGPSQDGD
NTIFKAWAKETGKYTEGVDEADPAKWKANLRCALNKSRDFRLIYDGPRDMPPQPYKIYEV
C
SNGPAPTDSQPPEDYSFGAGEEEEEEEELQRMLPSLSLTEDVKWPPTLQPPTLRPPTLQ
PPTLQPPVVLGPPAPDPSPLAPPPGNPAGFRELLSEVLEPGPLPASLPPAGEQLLPDLLI
SPHMLPLTDLEIKFQYRGRPPRALTISNPHGCRLFYSQLEATQEQVELFGPISLEQVRFP
SPEDIPSDKQRFYTNQLLDVLDRGLILQLQGQDLYAIRLCQCKVFWSGPCASAHDSCPNP
IQREVKTKLFSLEHFLNELILFQKGQTNTPPPFEIFFCFGEEWPDRKPREKKLITVQVVP
VAARLLLEMFS
GELSWSADSIRLQISNPDLKDRMVEQFKELHHIWQSQQRLQPVAQAPPG
AGLGVGQGPWPMHPAGMQ
Sequence length 498
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Toll-like receptor signaling pathway   Interferon gamma signaling
Interferon alpha/beta signaling
<
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
Biliary Cholangitis Primary biliary cholangitis N/A N/A GWAS
Biliary Cirrhosis Primary biliary cirrhosis N/A N/A GWAS
Diffuse Cutaneous Systemic Sclerosis Diffuse cutaneous systemic sclerosis N/A N/A GWAS
Gout Gout N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 37716650
Albuminuria Associate 37978231
Antiphospholipid Syndrome Associate 19644876
Aortic Aneurysm Abdominal Associate 38175709
Arthritis Juvenile Associate 29928998, 30940621
Arthritis Rheumatoid Associate 17158136, 17599733, 17881657, 18285424, 21807777, 23941291, 25011482, 27092776, 29379122, 31024565, 31169264, 33583939, 36814288, 39953635
Atherosclerosis Associate 33666161
Autoimmune Diseases Associate 18285424, 19796918, 20131239, 20639879, 21804190, 22544929, 22674082, 22909381, 23302156, 23616277, 24116155, 24697591, 25084355, 25205108, 26112714
View all (10 more)
Breast Neoplasms Associate 25649192
Carcinogenesis Inhibit 22507190