IRF8 (interferon regulatory factor 8)

2008-05-01  

Identity

HGNC
IRF8
LOCATION
16q24.1
LOCUSID
3394
ALIAS
H-ICSBP,ICSBP,ICSBP1,IMD32A,IMD32B,IRF-8
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3394
MIM: 601565
HGNC: 5358
Ensembl: ENSG00000140968

Variants:

dbSNP: 3394
ClinVar: 3394
TCGA: ENSG00000140968
COSMIC: IRF8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140968ENST00000268638Q02556
ENSG00000140968ENST00000562492H3BPS5
ENSG00000140968ENST00000563180H3BVC2
ENSG00000140968ENST00000564617H3BQH6
ENSG00000140968ENST00000564803H3BT31
ENSG00000140968ENST00000565552H3BQK3
ENSG00000140968ENST00000566369H3BNX4
ENSG00000140968ENST00000569145H3BQF9
ENSG00000140968ENST00000569607H3BRT4

Expression (GTEx)

0
50
100
150
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
PertussisKEGGko05133
PertussisKEGGhsa05133
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Interferon alpha/beta signalingREACTOMER-HSA-909733
Interferon gamma signalingREACTOMER-HSA-877300

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
195259532009Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.291
195259532009Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.291
215242102011IRF8 mutations and human dendritic-cell immunodeficiency.221
220461412011Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with systemic lupus erythematosus.90
198791942009Integration of genetic risk factors into a clinical algorithm for multiple sclerosis susceptibility: a weighted genetic risk score.80
224642532012Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as susceptibility loci for systemic lupus erythematosus in a large-scale multiracial replication study.60
244350472014Mutations in linker histone genes HIST1H1 B, C, D, and E; OCT2 (POU2F2); IRF8; and ARID1A underlying the pathogenesis of follicular lymphoma.58
211315882011Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL.55
164842292006IRF-8/interferon (IFN) consensus sequence-binding protein is involved in Toll-like receptor (TLR) signaling and contributes to the cross-talk between TLR and IFN-gamma signaling pathways.53
176873312007An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.51

Citation

Dessen P

IRF8 (interferon regulatory factor 8)

Atlas Genet Cytogenet Oncol Haematol. 2008-05-01

Online version: http://atlasgeneticsoncology.org/gene/50137/irf8