IRF8 (interferon regulatory factor 8)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3394
Gene name Gene Name - the full gene name approved by the HGNC.
Interferon regulatory factor 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
IRF8
Synonyms (NCBI Gene) Gene synonyms aliases
H-ICSBP, ICSBP, ICSBP1, IMD32A, IMD32B, IRF-8
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
Interferon consensus sequence-binding protein (ICSBP) is a transcription factor of the interferon (IFN) regulatory factor (IRF) family. Proteins of this family are composed of a conserved DNA-binding domain in the N-terminal region and a divergent C-termi
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs397514710 A>G Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs397514711 A>G Pathogenic Missense variant, 5 prime UTR variant, coding sequence variant
rs1567479117 ->T Uncertain-significance, pathogenic Stop lost, frameshift variant, terminator codon variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
miRTarBase ID miRNA Experiments Reference
MIRT649297 hsa-miR-646 HITS-CLIP 23824327
MIRT649296 hsa-miR-4686 HITS-CLIP 23824327
MIRT649297 hsa-miR-646 HITS-CLIP 23824327
MIRT649296 hsa-miR-4686 HITS-CLIP 23824327
MIRT649297 hsa-miR-646 HITS-CLIP 23824327
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
MBD1 Repression 19074829
STAT1 Activation 16918696;19074829
WT1 Repression 20237505
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(54)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 1460054, 25122610
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 1460054
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601565 5358 ENSG00000140968
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q02556
Protein name Interferon regulatory factor 8 (IRF-8) (Interferon consensus sequence-binding protein) (H-ICSBP) (ICSBP)
Protein function Transcription factor that specifically binds to the upstream regulatory region of type I interferon (IFN) and IFN-inducible MHC class I genes (the interferon consensus sequence (ICS)) (PubMed:25122610). Can both act as a transcriptional activato
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00605 IRF 9 → 113 Interferon regulatory factor transcription factor Domain
PF10401 IRF-3 202 → 382 Interferon-regulatory factor 3 Family
Tissue specificity TISSUE SPECIFICITY: Predominantly expressed in lymphoid tissues. {ECO:0000269|PubMed:1460054, ECO:0000269|PubMed:23166356}.
Sequence
Sequence length 426
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Pertussis   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)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Immunodeficiency immunodeficiency 32b rs397514710 N/A
Show/Hide Unknown Diseases (3)
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
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (92)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 30587197
AIDS Dementia Complex Associate 29128673
Anemia Refractory with Excess of Blasts Associate 25803272
Asthma Associate 35751199
Atherosclerosis Associate 25478796, 34020127, 34122426
Autoimmune Diseases Associate 23616277, 26794091
Behcet Syndrome Associate 26794091, 28166214, 28592884
Bone Resorption Associate 27559096
Breast Neoplasms Associate 28388578, 33766090
Bronchiolitis Obliterans Syndrome Associate 28851699