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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

IRF6 Gene

protein-coding   GIFtS: 61
GCID: GC01M209959

interferon regulatory factor 6

(Previous name: Van der Woude syndrome )
(Previous symbols: VWS, LPS)
 Explore 25 diseases affiliated with
IRF6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for IRF6    

Aliases
for IRF6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Interferon Regulatory Factor 61 2     PIT2 5
LPS1 2 5     PPS2 5
OFC61 2 5     Van Der Woude Syndrome1
VWS1 2 5     PPS12
VWS11 2     IRF-63

External Ids:    HGNC: 61211   Entrez Gene: 36642   Ensembl: ENSG000001175957   OMIM: 6071995   UniProtKB: O148963   

Export aliases for IRF6 gene to outside databases

Previous GC identifers: GC01M208600 GC01M205667 GC01M206600 GC01M207040 GC01M206349 GC01M208025 GC01M180637


Summaries
for IRF6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for IRF6:
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.(provided by RefSeq, May 2011)

UniProtKB/Swiss-Prot: IRF6_HUMAN, O14896
Function: Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte
proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in
regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity)

Gene Wiki entry for IRF6


Genomic Views
for IRF6 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_167186.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IRF6 gene promoter:
         GR   p53   GR-beta   RelA   POU2F1   POU2F1a   GR-alpha   ATF   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: IRF6 promoter sequence
   Search SABiosciences Chromatin IP Primers for IRF6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat IRF6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.3-q41   Ensembl cytogenetic band:  1q32.2   HGNC cytogenetic band: 1q32.2-q32.3

IRF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
IRF6 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M209959:  view genomic region     (about GC identifiers)

Start:
 209,959,036 bp from pter      End:
 209,979,479 bp from pter
Size:
 20,444 bases      Orientation:
 minus strand

Proteins
for IRF6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: IRF6_HUMAN, O14896 (See protein sequence)
Recommended Name: Interferon regulatory factor 6  
Size: 467 amino acids; 53130 Da
Subunit: Interacts with SERPINB5
Subcellular location: Nucleus (Potential). Cytoplasm. Note=Translocates to nucleus in response to an activating signal
(By similarity)
Secondary accessions: D3DT90 G0ZTL0

Explore the universe of human proteins at neXtProt for IRF6: NX_O14896

Post-translational modifications:

  • Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and
    • proteasome-mediated degradation1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14896

    • IRF6 Protein expression data from MOPED and PaxDb:    About this image 
    IRF6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001193625.1  NP_006138.1  

    ENSEMBL proteins: 
     ENSP00000355988   ENSP00000403855   ENSP00000440532  
    Reactome Protein details: O14896
    Human Recombinant Protein Products for IRF6: 
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    Novus Biologicals IRF6 Proteins
    Novus Biologicals IRF6 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for IRF6

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA18212048
    GO:0005829cytosol TAS--

    IRF6 for ontologies           About GeneDecksing



    IRF6 Antibody Products: 
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    Uscn ELISAs and CLIAs for IRF6

    Protein Domains /
    Families
    for IRF6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IRF6 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR011991 WHTH_trsnscrt_rep_DNA-bd_dom
     IPR001346 Interferon_reg_fact_DNA-bd_dom
     IPR008984 SMAD_FHA_domain
     IPR019817 Interferon_reg_fac_CS
     IPR017855 SMAD_dom-like

    Graphical View of Domain Structure for InterPro Entry O14896

    ProtoNet protein and cluster: O14896

    1 Blocks protein family: IPB001346 Interferon regulatory factor

    UniProtKB/Swiss-Prot: IRF6_HUMAN, O14896
    Similarity: Belongs to the IRF family
    Similarity: Contains 1 IRF tryptophan pentad repeat DNA-binding domain


    Function
    for IRF6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: IRF6_HUMAN, O14896
    Function: Probable DNA-binding transcriptional activator. Key determinant of the keratinocyte
    proliferation-differentiation switch involved in appropriate epidermal development (By similarity). Plays a role in
    regulating mammary epithelial cell proliferation (By similarity). May regulate WDR65 transcription (By similarity)

         Genatlas biochemistry entry for IRF6:
    interferon regulatory factor 6

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000975regulatory region DNA binding IEA--
    GO:0003677DNA binding ISS--
    GO:0003700sequence-specific DNA binding transcription factor activity ISS--
    GO:0005515protein binding IPI--
         
    IRF6 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for IRF6:
     Decreased viability with pacli 

         9 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Irf6):
     cellular  craniofacial  digestive/alimentary  growth/size  hearing/vestibular/ear 
     integument  limbs/digits/tail  mortality/aging  skeleton 

    IRF6 for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-out Irf6tm1.1Bcsl for IRF6
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for IRF6 

    miRNA
    Products:            		 OriGene 3'-UTR Clone: IRF6
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IRF6
    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate IRF6 (see all 35):
    hsa-miR-3164 hsa-miR-642a hsa-miR-138-2* hsa-miR-298 hsa-miR-3148 hsa-miR-505 hsa-miR-3065-5p hsa-miR-320d
    SwitchGear 3'UTR luciferase reporter plasmid: IRF6 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IRF6 (see all 7)
    OriGene shRNA RFP: IRF6
    OriGene siRNA: IRF6
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IRF6
    Sirion Biotech Custom design and validation of potent shRNA sequences against IRF6 

    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of IRF6 
    Sirion Biotech Customized adenovirus for potent knockdown of IRF6

    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF6


    Pathways & Interactions
    for IRF6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytokine Signaling in Immune system
    		Cytokine Signaling in Immune system1.00
    		Interferon Signaling0.61
    2Expression of IFN-induced genes
    		Expression of IFN-induced genes1.00
    		Interferon alpha/beta signaling0.61
    3Interferon gamma signaling
    		Interferon gamma signaling1.00
    		Expression of IFNG-stimulated genes0.72
    4Immune System
    		Immune System1.00
    5NF-kappaB Signaling
    		NF-kappaB Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for IRF6
        NF-kappaB Signaling

    1 BioSystems Pathway for IRF6 
        Apoptosis

    5/7        Reactome Pathways for IRF6 (see all 7)
        Interferon alpha/beta signaling
    Interferon gamma signaling
    Cytokine Signaling in Immune system
    Expression of IFN-induced genes
    Expression of IFNG-stimulated genes



    IRF6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IRF6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/61 Interacting proteins for IRF6 (O148961, 3 ENSP000003559884) via UniProtKB, MINT, STRING, and/or I2D (see all 61)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IRF8Q025561, 3, ENSP000002686384EBI-6115643,EBI-2866563 I2D: score=1 STRING: ENSP00000268638
    BNC2Q6ZN303, ENSP000003700474I2D: score=1 STRING: ENSP00000370047
    IRF5Q135683, ENSP000003497704I2D: score=1 STRING: ENSP00000349770
    RFX3P483803, ENSP000003714344I2D: score=1 STRING: ENSP00000371434
    LBPP184283, ENSP000002174074I2D: score=1 STRING: ENSP00000217407
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0007050cell cycle arrest IDA18212048
    GO:0008285negative regulation of cell proliferation IDA18212048
    GO:0019221cytokine-mediated signaling pathway TAS--
    GO:0030216keratinocyte differentiation IEA--

    IRF6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for IRF6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for IRF6
    Search CenterWatch for drugs/clinical trials and news about IRF6 

    Transcripts
    for IRF6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for IRF6 gene (2 alternative transcripts): 
    NM_001206696.1  NM_006147.3  

    Unigene Cluster for IRF6:

    Interferon regulatory factor 6
    Hs.591415  [show with all ESTs]
    Unigene Representative Sequence: NM_006147
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367021(uc001hhq.2 uc010psm.2) ENST00000456314 ENST00000464698
    ENST00000542854

    miRNA
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    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate IRF6 (see all 35):
    hsa-miR-3164 hsa-miR-642a hsa-miR-138-2* hsa-miR-298 hsa-miR-3148 hsa-miR-505 hsa-miR-3065-5p hsa-miR-320d
    SwitchGear 3'UTR luciferase reporter plasmid: IRF6 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for IRF6 (see all 7)
    OriGene shRNA RFP: IRF6
    OriGene siRNA: IRF6
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    Clone
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    Additional cDNA sequence: 

    AF027292.1 AK296960.1 AK312857.1 BC014852.1 

    11 DOTS entries:

    DT.105619  DT.213444  DT.97799175  DT.75187935  DT.75100447  DT.100781555  DT.100762392  DT.92426319 
    DT.97837646  DT.100775326  DT.100685263 

    24/196 AceView cDNA sequences (see all 196):

    AI611327 CR601385 AA877495 BC014852 AI017342 BF149180 NM_006147 BM975281 
    AI338042 BF001575 BX504521 AL698803 AL574841 AW204327 AI469558 BE673179 
    AI698120 BG286820 AW188320 BQ951987 AW849173 AI889885 AW293668 AW104647 

    GeneLoc Exon Structure


    Expression
    for IRF6 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    IRF6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CAACTGCCCC
    IRF6 Expression
    About this image

    IRF6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyUreteric BudUreteric Bud CellsKidney
    KidneyUreteric BudKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See IRF6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for IRF6

    SOURCE GeneReport for Unigene cluster: Hs.591415

    UniProtKB/Swiss-Prot: IRF6_HUMAN, O14896
    Tissue specificity: Expressed in normal mammary epithelial cells. Expression is reduced or absent in breast carcinomas

        SABiosciences Expression via Pathway-Focused PCR Arrays including IRF6: 
              Interferons & Receptors in human mouse rat
              Inflammasomes in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF6

    Orthologs
    for IRF6 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for IRF6 gene from 4/17 species (see all 17)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves IRF61 interferon regulatory factor 6 78.65(n)
    86.71(a)    		   419863  XM_417990.3  XP_417990.3 
    lizard
    (Anolis carolinensis)    		 Reptilia IRF66
    		 --
    		 83(a)
    		 1 ↔ 1
    		 4(126158202-126169370)
    African clawed frog
    (Xenopus laevis)    		 Amphibia xIRF-62 xIRF-6 protein 77.55(n)    D86492.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc635002 hypothetical protein MGC63500 76.73(n)   393570  BC056772.1 


    ENSEMBL Gene Tree for IRF6 (if available)
    TreeFam Gene Tree for IRF6 (if available) 

    Paralogs
    for IRF6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for IRF6 gene
    IRF82  IRF22  IRF52  IRF32  IRF42  IRF92  IRF12  IRF72  
    4 SIMAP similar genes for IRF6 using alignment to 4 protein entries:     IRF6_HUMAN (see all proteins):
    IRF5    IRF8    IRF7    IRF4

    IRF6 for paralogs           About GeneDecksing



    Genomic Variants
    for IRF6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/463 NCBI SNPs in IRF6 are shown (see all 463)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1214342291,2
    		Cpathogenic207207589(-) CACCCA/GGCATA 3 Q R mis1 int10--------
    rs22353711,2
    		C,F,O,Hpathogenic207218138(+) TTTGAC/TCTGCT 4 I V mis129Minor allele frequency- T:0.12EA NA NS EU 10551
    rs563439011,2
    		C--180633805(+) CTACCA/GGCGAT 2 -- ds50010--------
    rs1128965381,2
    		C--180634497(+) GTACAC/TAGTGA 2 -- ut311Minor allele frequency- T:0.50WA 2
    rs730916601,2
    		C--180634618(+) GATAGC/AAGACT 2 -- ut311Minor allele frequency- A:0.50WA 2
    rs676497581,2
    		--180634912(+) GCTAC-/AGATAGC 2 -- ut310--------
    rs671019741,2
    		--180634913(+) CTACA-/GATAGCC 2 -- ut310--------
    rs1147560641,2
    		C,F--180635400(+) GTCCCG/AACACA 2 -- ut311Minor allele frequency- A:0.03WA 118
    rs581618501,2
    		C--180635665(+) GACTTG/CCCACT 2 -- ut312Minor allele frequency- C:0.13WA 120
    rs48448991,2
    		--180636246(+) CACAGG/TCTGGG 2 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for IRF6 (209959036 - 209979479 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for IRF6: --
    Human Gene Mutation Database (HGMD): IRF6

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing IRF6
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    Disorders / Diseases
    for IRF6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    IRF6 for disorders           About GeneDecksing

    OMIM gene information: 607199   
    OMIM disorders: 119300  119500  608864  
    UniProtKB/Swiss-Prot: IRF6_HUMAN, O14896
  • Defects in IRF6 are the cause of van der Woude syndrome type 1 (VWS1) [MIM:119300]. An autosomal dominant
    • developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. Penetrance is incomplete. Van
    der Woude and popliteal pterygium syndrome are allelic disorders
  • Defects in IRF6 are the cause of popliteal pterygium syndrome (PPS) [MIM:119500]. PPS is an autosomal dominant
    • developmental disorder characterized by cleft lip and/or cleft palate, and skin and genital anomalies. Penetrance is
    incomplete and expressivity is variable. It shows orofacial phenotypic similarities with van der Woude syndrome. Van
    der Woude and popliteal pterygium syndrome are allelic disorders
  • Genetic variation in IRF6 is associated with non-syndromic orofacial cleft type 6 (OFC6) [MIM:608864]; also
    • called non-syndromic cleft lip with or without cleft palate 6. Non-syndromic orofacial cleft is a common birth defect
    consisting of cleft lips with or without cleft palate. Cleft lips are associated with cleft palate in two-third of
    cases. A cleft lip can occur on one or both sides and range in severity from a simple notch in the upper lip to a
    complete opening in the lip extending into the floor of the nostril and involving the upper gum

    20/25 diseases for IRF6 (see all 25):    About MalaCards
    van der woude syndrome    popliteal pterygium syndrome    orofacial cleft    pterygium
    cleft palate lateral synechia syndrome    arrhythmogenic right ventricular dysplasia    cleft lip    cleft lip/palate
    cleft palate    cleft lip +/- cleft palate    dental caries    birth defects
    tooth agenesis    hypodontia    kabuki syndrome    ectodermal dysplasia
    cerebral palsy    squamous cell carcinoma    hydrocephalus    meningitis

    4 diseases from the University of Copenhagen DISEASES database for IRF6:
    Cleft lip     Cleft palate     Tooth agenesis     Dental caries

    7 Novoseek disease relationships for IRF6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    van der woude syndrome 98.7 64 19929101 (3), 12920575 (2), 14618417 (2), 15647839 (2) (see all 34)
    popliteal pterygium syndrome 96.8 28 19282774 (5), 12219090 (2), 19036739 (2), 15939375 (2) (see all 12)
    cleft lip 89.5 36 15317890 (5), 17438386 (3), 16132054 (2), 18209213 (2) (see all 16)
    cleft palate 87.1 14 19536891 (2), 15558496 (1), 20424318 (1), 12920575 (1) (see all 10)
    hypodontia 79.2 3 12920575 (1), 18209213 (1)
    congenital disorders 53.7 2 17041603 (1)
    virus infection 0 2 12219090 (1), 15939375 (1)

    GeneTests: IRF6
    IRF6-Related Disorders

    Genetic Association Database (GAD): IRF6
    Human Genome Epidemiology (HuGE) Navigator: IRF6 (32 documents)

    Export disorders for IRF6 gene to outside databases

    Publications
    for IRF6 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for IRF6 gene, integrated from 9 sources (see all 121):
    (articles sorted by number of sources associating them with IRF6)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. (PubMed id 12219090)1, 2, 3, 9 Kondo S.... Murray J.C. (2002)
    2. Interferon regulatory factor 6 promotes cell cycle arrest and is regulated by the proteasome in a cell cycle-dependent manner. (PubMed id 18212048)1, 2, 9 Bailey C.M....Hendrix M.J. (2008)
    3. Novel mutations in the IRF6 gene for Van der Woude syndrome. (PubMed id 12920575)1, 2, 9 Wang X.... Kong X. (2003)
    4. Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. (PubMed id 19036739)1, 2, 9 Little H.J....Shore P. (2009)
    5. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. (PubMed id 15317890)1, 2, 9 Zucchero T.M.... Murray J.C. (2004)
    6. A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome. (PubMed id 15013698)1, 4, 9 Gatta V....Stuppia L. (2004)
    7. Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. (PubMed id 14618417)1, 2, 9 Kayano S.... Matsubara Y. (2003)
    8. IRF6 mutations in mixed isolated familial clefting. (PubMed id 21082654)1, 2 Rutledge K.D.... Robin N.H. (2010)
    9. Two missense mutations of the IRF6 gene in two Japanese families with popliteal pterygium syndrome. (PubMed id 20803643)1, 2 Matsuzawa N.... Yoshiura K. (2010)
    10. A novel missense mutation in Van der Woude syndrome: usefulness of fingernail DNA for genetic analysis. (PubMed id 17122170)1, 2 Matsuzawa N.... Yoshiura K. (2006)

    External Searches for IRF6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing IRF6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3664 HGNC: 6121 AceView: IRF6 Ensembl:ENSG00000117595 euGenes: HUgn3664
    ECgene: IRF6 H-InvDB: IRF6

    Other Databases showing IRF6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing IRF6 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for IRF6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/IRF6

    Intellectual Property
    for IRF6 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for IRF6 gene:
    Search GeneIP for patents involving IRF6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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