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

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; AllianceGenome:HGNC:5358
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: mouse all
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Genomic context

Location:: 16q24.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	16	NC_000016.10 (85899162..85922609)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	16	NC_060940.1 (91965661..91989108)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	16	NC_000016.9 (85932768..85956215)

Chromosome 16 - NC_000016.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

WTAP Mediated N6-methyladenosine RNA Modification of ELF3 Drives Cellular Senescence by Upregulating IRF8.
Title: WTAP Mediated N6-methyladenosine RNA Modification of ELF3 Drives Cellular Senescence by Upregulating IRF8.
Circulating IRF8-expressing CD123[+]CD127[+] lymphoid progenitors: key players in human hematopoiesis.
Title: Circulating IRF8-expressing CD123(+)CD127(+) lymphoid progenitors: key players in human hematopoiesis.
Loss of IRF8 inhibits the growth of acute myeloid leukemia cells.
Title: Loss of IRF8 inhibits the growth of acute myeloid leukemia cells.
Expression of Interferon Regulatory Factor 8 (IRF8) and Its Association with Infections in Dialysis Patients.
Title: Expression of Interferon Regulatory Factor 8 (IRF8) and Its Association with Infections in Dialysis Patients.
Intrathymic dendritic cell-biased precursors promote human T cell lineage specification through IRF8-driven transmembrane TNF.
Title: Intrathymic dendritic cell-biased precursors promote human T cell lineage specification through IRF8-driven transmembrane TNF.
IRF8 Regulates Intrinsic Ferroptosis through Repressing p53 Expression to Maintain Tumor Cell Sensitivity to Cytotoxic T Lymphocytes.
Title: IRF8 Regulates Intrinsic Ferroptosis through Repressing p53 Expression to Maintain Tumor Cell Sensitivity to Cytotoxic T Lymphocytes.
Tumor-associated macrophages expressing the transcription factor IRF8 promote T cell exhaustion in cancer.
Title: Tumor-associated macrophages expressing the transcription factor IRF8 promote T cell exhaustion in cancer.
IRF8 as a Novel Marker to Differentiate Between CD30-Positive Large Cell Lymphomas.
Title: IRF8 as a Novel Marker to Differentiate Between CD30-Positive Large Cell Lymphomas.
IRF4 and IRF8 expression are associated with clinical phenotype and clinico-hematological response to hydroxyurea in essential thrombocythemia.
Title: IRF4 and IRF8 expression are associated with clinical phenotype and clinico-hematological response to hydroxyurea in essential thrombocythemia.
Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery.
Title: Lupus enhancer risk variant causes dysregulation of IRF8 through cooperative lncRNA and DNA methylation machinery.

Submit: New GeneRIF Correction See all GeneRIFs (120)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Immunodeficiency 32B MedGen: C4016741 OMIM: 226990 GeneReviews: Not available	Compare labs
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency MedGen: C3808589 OMIM: 614893 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54712 (e-PCR)
- UniSTS:117814

G59469 (e-PCR)
- UniSTS:136775

RH103354 (e-PCR)
- UniSTS:97685

RH69196 (e-PCR)
- UniSTS:45470

D16S3205 (e-PCR)
- UniSTS:66226

ICSBP1_3162 (e-PCR)
- UniSTS:462262

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in autophagy	IEA Inferred from Electronic Annotation more info
involved_in cellular response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info
involved_in cellular response to type II interferon	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to bacterium	IEA Inferred from Electronic Annotation more info
involved_in defense response to protozoan	IEA Inferred from Electronic Annotation more info
involved_in dendritic cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in follicular B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in germinal center B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in immune response	TAS Traceable Author Statement more info	PubMed
involved_in immune system process	IBA Inferred from Biological aspect of Ancestor more info
involved_in myeloid cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in phagocytosis	IEA Inferred from Electronic Annotation more info
involved_in plasmacytoid dendritic cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of interleukin-12 production	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of type II interferon production	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of type I interferon production	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: interferon regulatory factor 8

Names: interferon consensus sequence binding protein 1

NCBI Reference Sequences (RefSeq)

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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

NG_029333.1 RefSeqGene

Range

5001..28439

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_294

mRNA and Protein(s)

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

Status: REVIEWED

Source sequence(s)

AC092723

UniProtKB/TrEMBL

B2R8V7

Conserved Domains (2) summary

pfam00605
Location:19 → 123

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:213 → 391

IRF-3; Interferon-regulatory factor 3
NM_001363908.1 → NP_001350837.1 interferon regulatory factor 8 isoform 3

Status: REVIEWED

Source sequence(s)

AC092723

Consensus CDS

CCDS86547.1

UniProtKB/TrEMBL

H3BPS5, H3BRT4

Related

ENSP00000456395.2, ENST00000569607.2

Conserved Domains (1) summary

pfam10401
Location:1 → 177

IRF-3; Interferon-regulatory factor 3
NM_002163.4 → NP_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

A0AV82, Q02556

UniProtKB/TrEMBL

B2R8V7

Related

ENSP00000268638.4, ENST00000268638.10

Conserved Domains (2) summary

pfam00605
Location:9 → 113

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:203 → 381

IRF-3; Interferon-regulatory factor 3