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IRF8 interferon regulatory factor 8 [ Homo sapiens (human) ]

Gene ID: 3394, updated on 20-Dec-2019

Summary

Official Symbol
IRF8provided by HGNC
Official Full Name
interferon regulatory factor 8provided by HGNC
Primary source
HGNC:HGNC:5358
See related
Ensembl:ENSG00000140968 MIM:601565
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ICSBP; IRF-8; ICSBP1; IMD32A; IMD32B; H-ICSBP
Summary
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-terminal region that serves as the regulatory domain. The IRF family proteins bind to the IFN-stimulated response element (ISRE) and regulate expression of genes stimulated by type I IFNs, namely IFN-alpha and IFN-beta. IRF family proteins also control expression of IFN-alpha and IFN-beta-regulated genes that are induced by viral infection. [provided by RefSeq, Jul 2008]
Expression
Biased expression in lymph node (RPKM 108.4), spleen (RPKM 67.5) and 11 other tissues See more
Orthologs

Genomic context

See IRF8 in Genome Data Viewer
Location:
16q24.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (85899162..85922609)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (85932774..85956212)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene iron-sulfur cluster assembly 1 homolog (S. cerevisiae) pseudogene Neighboring gene ribosomal protein L10a pseudogene 12 Neighboring gene microRNA 6774 Neighboring gene long intergenic non-protein coding RNA 2132 Neighboring gene uncharacterized LOC105371388

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Immunodeficiency 32a
MedGen: C3808589 OMIM: 614893 GeneReviews: Not available
Compare labs
Immunodeficiency 32b
MedGen: C4016741 OMIM: 226990 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
NHGRI GWA Catalog
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
NHGRI GWA Catalog
Genetic variation associated with circulating monocyte count in the eMERGE Network.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog
Genome-wide association analysis accounting for environmental factors through propensity-score matching: application to stressful live events in major depressive disorder.
NHGRI GWA Catalog
Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.
NHGRI GWA Catalog
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.
NHGRI GWA Catalog
Genome-wide association study of ulcerative colitis in Koreans suggests extensive overlapping of genetic susceptibility with Caucasians.
NHGRI GWA Catalog
Genome-wide meta-analysis for severe diabetic retinopathy.
NHGRI GWA Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
NHGRI GWA Catalog
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.
NHGRI GWA Catalog
Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
autophagy IEA
Inferred from Electronic Annotation
more info
 
cellular response to interferon-gamma IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to lipopolysaccharide IEA
Inferred from Electronic Annotation
more info
 
defense response to bacterium IEA
Inferred from Electronic Annotation
more info
 
defense response to protozoan IEA
Inferred from Electronic Annotation
more info
 
immune response TAS
Traceable Author Statement
more info
PubMed 
immune system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
interferon-gamma-mediated signaling pathway TAS
Traceable Author Statement
more info
 
myeloid cell differentiation IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
phagocytosis IEA
Inferred from Electronic Annotation
more info
 
positive regulation of interferon-gamma production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of interleukin-12 production IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
interferon regulatory factor 8
Names
interferon consensus sequence binding protein 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029333.1 RefSeqGene

    Range
    5001..28439
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_294

mRNA and Protein(s)

  1. NM_001363907.1NP_001350836.1  interferon regulatory factor 8 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC092723
    Conserved Domains (2) summary
    pfam00605
    Location:19123
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:213391
    IRF-3; Interferon-regulatory factor 3
  2. NM_001363908.1NP_001350837.1  interferon regulatory factor 8 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092723
    Consensus CDS
    CCDS86547.1
    Related
    ENSP00000455452.1, ENST00000562492.5
    Conserved Domains (1) summary
    pfam10401
    Location:1177
    IRF-3; Interferon-regulatory factor 3
  3. NM_002163.4NP_002154.1  interferon regulatory factor 8 isoform 2

    See identical proteins and their annotated locations for NP_002154.1

    Status: REVIEWED

    Source sequence(s)
    AA232881, AC092723, AI307662, BF110315, BG107396, BI835080, CB214983, M91196
    Consensus CDS
    CCDS10956.1
    UniProtKB/Swiss-Prot
    Q02556
    Related
    ENSP00000268638.4, ENST00000268638.10
    Conserved Domains (2) summary
    pfam00605
    Location:9113
    IRF; Interferon regulatory factor transcription factor
    pfam10401
    Location:203381
    IRF-3; Interferon-regulatory factor 3

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

    Range
    85899162..85922609
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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