IRF6 (interferon regulatory factor 6)

2011-03-01  

Identity

HGNC
IRF6
LOCATION
1q32.2
LOCUSID
3664
ALIAS
LPS,OFC6,PIT,PPS,PPS1,VWS,VWS1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 3664
MIM: 607199
HGNC: 6121
Ensembl: ENSG00000117595

Variants:

dbSNP: 3664
ClinVar: 3664
TCGA: ENSG00000117595
COSMIC: IRF6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117595ENST00000367021O14896
ENSG00000117595ENST00000367021G0Z349
ENSG00000117595ENST00000456314B1AJU4
ENSG00000117595ENST00000542854O14896
ENSG00000117595ENST00000643798A0A2R8YHF3

Expression (GTEx)

0
50
100
150
200
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
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
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166119041drug-induced liver injuryDiseaseClinicalAnnotationassociatedPD30013178
PA444987Multiple SclerosisDiseaseClinicalAnnotationassociatedPD30013178
PA450037interferon beta-1aChemicalClinicalAnnotationassociatedPD30013178
PA450039interferon beta-1bChemicalClinicalAnnotationassociatedPD30013178

References

Pubmed IDYearTitleCitations
368666192024Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.1
383115522024[Correlation between methylation of interferon regulatory factor 6 gene promoter in renal tissues and overall survival of patients with Kidney renal clear cell carcinoma].0
384295842024Biophysical and functional characterization of N-terminal domain of Human Interferon Regulatory Factor 6.0
384931792024Identification and validation of IRF6 related to ovarian cancer and biological function and prognostic value.2
385465172024Review on the Role of IRF6 in the Pathogenesis of Non-syndromic Orofacial Clefts.0
388095842024A novel noncanonical function for IRF6 in the recycling of E-cadherin.0
368666192024Causal Variations at IRF6 Gene Identified in Van der Woude Syndrome Pedigrees.1
383115522024[Correlation between methylation of interferon regulatory factor 6 gene promoter in renal tissues and overall survival of patients with Kidney renal clear cell carcinoma].0
384295842024Biophysical and functional characterization of N-terminal domain of Human Interferon Regulatory Factor 6.0
384931792024Identification and validation of IRF6 related to ovarian cancer and biological function and prognostic value.2
385465172024Review on the Role of IRF6 in the Pathogenesis of Non-syndromic Orofacial Clefts.0
388095842024A novel noncanonical function for IRF6 in the recycling of E-cadherin.0
348940202023Association between variants around IRF6 and non-syndromic orofacial cleft in Western Han Chinese.1
364849492023Association of single nucleotide polymorphisms in the IRF6 gene with nonsyndromic cleft lip with or without cleft palate in Kinh Vietnamese patients.0
368477402023The IRF6 AP-2α binding site polymorphism relate to the severity of non-syndromic orofacial cleft of Indonesian patients.0

Citation

Dessen P

IRF6 (interferon regulatory factor 6)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52118/case-report-explorer/js/lib/css/card-gene.css