IRF6 (interferon regulatory factor 6)

2011-03-01  

Identity

HGNC
LOCATION
1q32.2
LOCUSID
ALIAS
LPS,OFC6,PIT,PPS,PPS1,VWS,VWS1
FUSION GENES

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

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

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/gene-explorer/meetings/js/web-card-gene.js