Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	3394
Gene name	Interferon regulatory factor 8
Gene symbol	IRF8
Synonyms (NCBI Gene)	H-ICSBPICSBPICSBP1IMD32AIMD32BIRF-8
Chromosome	16
Chromosome location	16q24.1
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-termi

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

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
MIRT649296	hsa-miR-4686	HITS-CLIP	23824327
MIRT649297	hsa-miR-646	HITS-CLIP	23824327
MIRT649296	hsa-miR-4686	HITS-CLIP	23824327
MIRT1071462	hsa-miR-1264	CLIP-seq
MIRT1071463	hsa-miR-3978	CLIP-seq
MIRT1071464	hsa-miR-9	CLIP-seq
MIRT2017580	hsa-miR-3074-5p	CLIP-seq
MIRT2017581	hsa-miR-3130-3p	CLIP-seq
MIRT2017582	hsa-miR-4789-3p	CLIP-seq
MIRT2017583	hsa-miR-767-5p	CLIP-seq
MIRT2249537	hsa-miR-345	CLIP-seq
MIRT1071464	hsa-miR-9	CLIP-seq

Show/Hide all (3)

Transcription factor	Regulation	Reference
MBD1	Repression	19074829
STAT1	Activation	16918696;19074829
WT1	Repression	20237505

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
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	1460054
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
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	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	TAS	1460054
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	1460054
GO:0002273	Process	Plasmacytoid dendritic cell differentiation	IEA
GO:0002273	Process	Plasmacytoid dendritic cell differentiation	ISS
GO:0002314	Process	Germinal center B cell differentiation	IEA
GO:0002316	Process	Follicular B cell differentiation	IEA
GO:0002376	Process	Immune system process	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	21903422, 32814053, 33951726
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	25122610
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	25122610
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006909	Process	Phagocytosis	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	IEA
GO:0006955	Process	Immune response	TAS	8861914
GO:0009617	Process	Response to bacterium	IEA
GO:0030099	Process	Myeloid cell differentiation	IEA
GO:0032479	Process	Regulation of type I interferon production	IEA
GO:0032479	Process	Regulation of type I interferon production	ISS
GO:0032729	Process	Positive regulation of type II interferon production	IEA
GO:0032735	Process	Positive regulation of interleukin-12 production	IEA
GO:0042742	Process	Defense response to bacterium	IEA
GO:0042832	Process	Defense response to protozoan	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	25122610
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0071222	Process	Cellular response to lipopolysaccharide	IEA
GO:0071346	Process	Cellular response to type II interferon	IDA	25122610
GO:0071346	Process	Cellular response to type II interferon	IEA
GO:0097028	Process	Dendritic cell differentiation	IEA
GO:0097028	Process	Dendritic cell differentiation	ISS
GO:0098542	Process	Defense response to other organism	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

MIM	HGNC	e!Ensembl
601565	5358	ENSG00000140968

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

MCDRNGGRRLRQWLIEQIDSSMYPGLIWENEEKSMFRIPWKHAGKQDYNQEVDASIFKAW
AVFKGKFKEGDKAEPATWKTRLRCALNKSPDFEEVTDRSQLDISEPYKVYRIVPEEEQKC
KLGVATAGCVNEVTEMECGRSEIDELIKEPSVDDYMGMIKRSPSPPEACRSQLLPDWWAQ
QPSTGVPLVTGYTTYDAHHSAFSQMVISFYYGGKLVGQATTTCPEGCRLSLSQPGLPGTK
LYGPEGLELVRFPPADAIPSERQRQVTRKLFGHLERGVLLHSSRQGVFVKRLCQGRVFCS
GNAVVCKGRPNKLERDEVVQVFDTSQFFRELQQFYNSQGRLPDGRVVLCFGEEFPDMAPL
RSKLILVQIEQLYVRQLAEEAGKSCGAGSVMQAPEEPPPDQVFRMFPDICASHQRSFFRE
NQQITV

Sequence length

426

Interactions

View interactions

	KEGG		Reactome
	Pertussis		Interferon gamma signaling Interferon alpha/beta signaling

687

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Esophageal atresia/tracheoesophageal fistula	Likely pathogenic	rs1905412024	RCV001172293
Immunodeficiency 32B	Pathogenic	rs397514710	RCV000050229
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	Likely pathogenic	rs397514711	RCV000050230

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Gastric cancer	Uncertain significance	rs377181003	RCV005897338
Inherited Immunodeficiency Diseases	Conflicting classifications of pathogenicity	rs1567479117	RCV001027585
IRF8-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs374563565, rs780579711, rs201757188, rs781716749, rs372863612, rs11545564, rs202046728, rs142267779, rs61995933, rs183121597, rs150193781, rs138032891, rs371410129	RCV003948460 RCV003946261 RCV003913491 RCV003949018 RCV003392314 RCV003980024 RCV003925754 RCV004756001 RCV003965402 RCV003918072 RCV003910687 RCV003912841 RCV003978097
Lung cancer	Uncertain significance; Likely benign	rs377181003, rs200999470	RCV005897339 RCV005908987
Sarcoma	Likely benign	rs200999470	RCV005908986
See cases	Uncertain significance	rs771773479	RCV002252380

Show/Hide Text Mining Associations (92)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Calcinosis Cutis	Associate	31221219
Carcinoma Renal Cell	Associate	27582125, 31221219, 32481352
Carcinoma Squamous Cell	Associate	35779918
Cardiomyopathy Hypertrophic	Associate	32531470
Central Nervous System Diseases	Associate	31849969
Cognition Disorders	Associate	31849969
Colonic Neoplasms	Associate	19074829
Colorectal Neoplasms	Associate	19074829
COVID 19	Associate	34020127, 35114420, 35751199
Coxa Magna	Associate	36627660
Crohn Disease	Associate	22152681, 28166214
Cytokine Release Syndrome	Associate	17200120
Dendritic Cell Sarcoma Follicular	Associate	29128673
Diabetic Nephropathies	Associate	35909518
Endometrial Neoplasms	Associate	35993041
Epiphyseal dysplasia multiple 1	Associate	29247272
Fibrosis	Associate	35903097, 36091020
Glioma	Stimulate	33902005
Hematologic Neoplasms	Associate	23658517, 35085599, 9414265
Hemophilia A	Associate	29128673
HIV Infections	Associate	31849969
Hyperplasia	Associate	25122610
Hypophosphatemia Renal with Intracerebral Calcifications	Associate	29128673
Immune System Diseases	Associate	29128673
Immunologic Deficiency Syndromes	Associate	25122610
Infections	Associate	34666172
Inflammation	Associate	22152681, 29247272, 35565057
Invasive Pneumococcal Disease Recurrent Isolated 2	Associate	25122610
Leprosy	Associate	28166214
Leukemia	Inhibit	22262849
Leukemia Lymphocytic Chronic B Cell	Associate	21131588, 23307532
Leukemia Monocytic Acute	Associate	29128673, 35085599
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	11369663, 24886876, 9414265
Leukemia Myelogenous Chronic BCR ABL Positive	Inhibit	9414265
Leukemia Myeloid	Associate	20724440
Leukemia Myeloid	Inhibit	9414265
Leukemia Myeloid Acute	Associate	16822855, 19666867, 23967110, 34358447, 34478652, 35301220, 35709529
Leukemia Myeloid Acute	Inhibit	9414265
Leukemia Myelomonocytic Chronic	Associate	32763828
Leukemia Promyelocytic Acute	Associate	28492552
Leukocyte Disorders	Associate	35008108
Liver Cirrhosis	Associate	35903097
Lung Neoplasms	Associate	27496222
Lupus Erythematosus Systemic	Associate	22046141, 22464253, 25890262, 30315781, 35388006
Lymphoma	Associate	18580679, 37475138
Lymphoma	Stimulate	23775715
Lymphoma B Cell	Associate	18580679, 23775715, 35086136, 35834399
Lymphoma B Cell Marginal Zone	Associate	34952945, 35609565
Lymphoma Follicular	Associate	24435047, 27338637, 28533310, 36994552, 37561599
Lymphoma Large B Cell Diffuse	Associate	23292937, 23573829, 28537908, 34478526, 35086136, 37032379, 37205092
Melanoma	Associate	32316408
Multiple Myeloma	Inhibit	18922617
Multiple Myeloma	Associate	27559096, 33751038
Multiple Sclerosis	Associate	19525953, 20736230, 21552549, 24130718, 25231264, 31004050, 31857644
Muscular Dystrophy Duchenne	Associate	34922439
Myasthenia Gravis	Associate	29569949
Mycoses	Associate	25122610
Myositis Inclusion Body	Associate	32259312
Neoplasms	Associate	16822855, 19074829, 23775715, 27496222, 28537908, 30710564, 31221219, 33766090, 35085599
Neoplasms	Inhibit	21599969, 23658517, 28388578, 32039830
Neoplasms	Stimulate	35012444
Neoplasms Squamous Cell	Associate	35085599
Neurologic Manifestations	Associate	25231264
Neutrophilia Hereditary	Associate	34666172
Oral Submucous Fibrosis	Associate	36966276
Osteoarthritis	Stimulate	29247272
Osteoarthritis	Associate	36960385
Osteosarcoma	Associate	30710564
Pancreatic Neoplasms	Stimulate	35012444
Periodontitis	Associate	26334995
Psoriasis	Associate	34122426
Pulmonary Alveolar Proteinosis	Associate	35338423
Rectal Neoplasms	Associate	21859832
Respiratory Distress Syndrome	Associate	37443002
Sarcoma Myeloid	Associate	35085599
Scleroderma Systemic	Associate	23124809, 25880423
Sepsis	Associate	37443002
Squamous Cell Carcinoma of Head and Neck	Associate	35664436, 36966276
Stomach Neoplasms	Inhibit	20507321, 32039830
Stomach Neoplasms	Associate	35874675
Urinary Bladder Neoplasms	Associate	21599969
Virus Diseases	Associate	29128673

IRF8 (interferon regulatory factor 8)