Gene: IRF6

Alternate names for this Gene: LPS|OFC6|PIT|PPS|PPS1|VWS|VWS1

Gene Summary: This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.2

Description of this Gene: interferon regulatory factor 6

Type of Gene: protein-coding

rs2235371 in IRF6 gene and Cleft Palate PMID 25775280 2015 Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

rs2013162 in IRF6 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.

PMID 22863734 2012 Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.

PMID 25775280 2015 Genome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.

rs59043219 in IRF6 gene and Crohn Disease PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs59043219 in IRF6 gene and Inflammatory Bowel Diseases PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.

rs121434226 in IRF6 gene and OROFACIAL CLEFT 6, SUSCEPTIBILITY TO PMID 19036739 2009 Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

PMID 25548624 2014 Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

PMID 18617879 2008 A familial case of popliteal pterygium syndrome.

PMID 22488974 2012 EEC syndrome-like phenotype in a patient with an IRF6 mutation.

PMID 12219090 2002 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

PMID 19282774 2009 Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

PMID 25784454 2015 Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.

PMID 23154523 2013 Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

PMID 16160700 2005 Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.

PMID 21045959 2010 IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

PMID 15472655 2004 Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.

PMID 27834299 2017 Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

PMID 19449419 2009 Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

PMID 23394314 2014 Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

rs121434226 in IRF6 gene and Popliteal pterygium syndrome PMID 20803643 2010 Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome.

PMID 22488974 2012 EEC syndrome-like phenotype in a patient with an IRF6 mutation.

PMID 14640121 2003 Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

PMID 25548624 2014 Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

PMID 12219090 2002 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

PMID 18617879 2008 A familial case of popliteal pterygium syndrome.

PMID 19036739 2009 Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

PMID 20803643 2010 To further investigate the IRF6 mutation profile in PPS, we performed mutation analysis of patients from two unrelated Japanese families with PPS and identified mutations in IRF6: c.251G>T (R84L) and c.1271C>T (S424L).

PMID 19282774 2009 Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

PMID 25784454 2015 Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.

PMID 23154523 2013 Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

PMID 21045959 2010 IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

PMID 16160700 2005 Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.

PMID 27834299 2017 Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

PMID 15472655 2004 Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.

PMID 19449419 2009 Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

PMID 20803643 2010 To further investigate the IRF6 mutation profile in PPS, we performed mutation analysis of patients from two unrelated Japanese families with PPS and identified mutations in IRF6: c.251G>T (R84L) and c.1271C>T (S424L).

PMID 23394314 2014 Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.

rs7555285 in IRF6 gene and Systolic Pressure PMID 30224653 2018 Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.

rs121434226 in IRF6 gene and VAN DER WOUDE SYNDROME 1 PMID 18617879 2008 A familial case of popliteal pterygium syndrome.

PMID 25548624 2014 Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

PMID 19036739 2009 Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6.

PMID 22488974 2012 EEC syndrome-like phenotype in a patient with an IRF6 mutation.

PMID 14618417 2003 Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion.

PMID 18478600 2008 A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia.

PMID 14640121 2003 Gene symbol IRF6. Disease: Van der Woude syndrome and popliteal pterygium.

PMID 12920575 2003 Novel mutations in the IRF6 gene for Van der Woude syndrome.

PMID 12219090 2002 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.

PMID 15300989 2004 Gene symbol: IRF6. Disease: Van der Woude syndrome.

PMID 17122170 2006 A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis.

PMID 19623037 2009 Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling.

PMID 25784454 2015 Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.

PMID 19282774 2009 Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome.

PMID 23154523 2013 Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases.

PMID 16160700 2005 Novel and de novo mutations of the IRF6 gene detected in patients with Van der Woude or popliteal pterygium syndrome.

PMID 21045959 2010 IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign.

PMID 15472655 2004 Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome.

PMID 27834299 2017 Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing.

PMID 19449419 2009 Novel mutations in IRF6 in nonsyndromic cleft lip with or without cleft palate: when should IRF6 mutational screening be done?

PMID 23394314 2014 Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate.