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IRF6 Gene

protein-coding   GIFtS: 63
GCID: GC01M209959

Interferon Regulatory Factor 6

(Previous name: Van der Woude syndrome)
(Previous symbols: VWS, LPS)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Interferon Regulatory Factor 61 2     PPS12 5
LPS1 2 5     Van Der Woude Syndrome1
VWS1 2 5     PPS2
OFC62 5     VWS12
PIT2 5     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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for IRF6 Gene:
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)

GeneCards Summary for IRF6 Gene:
IRF6 (interferon regulatory factor 6) is a protein-coding gene. Diseases associated with IRF6 include cleft palate lateral synechia syndrome, and van der woude syndrome. GO annotations related to this gene include regulatory region DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is IRF8.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   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 plasmidIRF6 promoter sequence
   Search Chromatin IP Primers for IRF6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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:
209,958,968 bp from pter      End:
209,979,520 bp from pter
Size:
20,553 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
Secondary accessions: B4DLE2 D3DT90 F5GWX8 G0ZTL0
Alternative splicing: 2 isoforms:  O14896-1   O14896-2   (No experimental confirmation available)

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

Explore proteomics data for IRF6 at MOPED

Post-translational modifications: 

  • Phosphorylated. Phosphorylation status depends on the cell cycle and is a signal for ubiquitination and
    proteasome-mediated degradation1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See IRF6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001193625.1  NP_006138.1  

    ENSEMBL proteins: 
     ENSP00000355988   ENSP00000403855   ENSP00000440532  
    Reactome Protein details: O14896

    IRF6 Human Recombinant Protein Products:

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    Novus Biologicals IRF6 Proteins
    Novus Biologicals IRF6 Lysates
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for IRF6

    IRF6 Antibody Products:

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    IRF6 Assay Products:

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    GenScript Custom Assay Services for IRF6
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    Cloud-Clone Corp. ELISAs for IRF6
    Cloud-Clone Corp. CLIAs for IRF6


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 6):
     IPR001346 Interferon_reg_fact_DNA-bd_dom
     IPR008984 SMAD_FHA_domain
     IPR019817 Interferon_reg_fac_CS
     IPR019471 Interferon_reg_factor-3
     IPR011991 WHTH_DNA-bd_dom

    Graphical View of Domain Structure for InterPro Entry O14896

    ProtoNet protein and cluster: O14896

    1 Blocks protein domain: 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


    IRF6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    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 IPI16049006
         
    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/body  hearing/vestibular/ear 
     integument  limbs/digits/tail  mortality/aging  skeleton 

    IRF6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Irf6tm1.1Bcsl for IRF6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for IRF6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for IRF6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IRF6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IRF6

    miRNA
    Products:
        
    miRTarBase miRNAs that target IRF6:
    hsa-mir-335-5p (MIRT018970)

    Block miRNA regulation of human, mouse, rat IRF6 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidIRF6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for IRF6
    Predesigned siRNA for gene silencing in human, mouse, rat IRF6

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for IRF6

    Clone
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    OriGene clones in human, mouse for IRF6 (see all 7)
    OriGene ORF clones in mouse, rat for IRF6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): IRF6 (NM_006147)
    Sino Biological Human cDNA Clone for IRF6
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IRF6
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IRF6

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for IRF6 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    IRF6_HUMAN, O14896: Nucleus (Potential). Cytoplasm. Note=Translocates to nucleus in response to an activating
    signal (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion3
    nucleus3
    extracellular2
    peroxisome2
    endosome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IDA16049006
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA19056867

    IRF6 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for IRF6 About    
    See pathways by source

    SuperPathContained pathways About
    1Interferon Signaling
    Interferon Signaling0.59
    Interferon gamma signaling0.41
    Cytokine Signaling in Immune system0.59
    2Immune response IFN alpha beta signaling pathway
    Interferon alpha/beta signaling0.43
    3Apoptosis (WikiPathways)
    Apoptosis0.38
    4NF-kappaB Signaling
    NF-kappaB Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    1 BioSystems Pathway for IRF6
        Apoptosis


    2 Reactome Pathways for IRF6
        Interferon alpha/beta signaling
    Interferon gamma signaling



    IRF6 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including IRF6: 
              Interferons & Receptors in human mouse rat
              Inflammasomes in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for IRF6

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

    Selected Interacting proteins for IRF6 (O148961, 3 ENSP000003559884) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    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): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated ----
    GO:0007050cell cycle arrest IDA18212048
    GO:0008285negative regulation of cell proliferation IDA18212048
    GO:0019221cytokine-mediated signaling pathway TAS--

    IRF6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for IRF6



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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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    Block miRNA regulation of human, mouse, rat IRF6 using miScript Target Protectors
    Selected qRT-PCR 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 plasmidIRF6 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat IRF6
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    GenScript: all cDNA clones in your preferred vector (see all 2): IRF6 (NM_006147)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IRF6
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat IRF6
      QuantiTect SYBR Green Assays in human, mouse, rat IRF6
      QuantiFast Probe-based Assays in human, mouse, rat IRF6

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 196):

    AW293668 BX504521 BQ951987 BF149180 AU141495 AI017342 AW204327 AW188320 
    AW849173 AA043343 AW104647 AL698803 AA877495 AI889885 AI698120 AI889874 
    AI611327 CR601385 AI338042 BI770148 NM_006147 BG286820 AI912495 BM544765 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    IRF6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAACTGCCCC
    IRF6 Expression
    About this image


    IRF6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Kidney (Urinary System)    fully expand to see all 4 entries
             Ureteric Bud Cells Ureteric Bud
             Renal Collecting Duct System
     
     Epithelial Cells
             Spinous Keratinocytes Stratified Epidermis
     
     Epidermis (Integumentary System)    fully expand to see all 2 entries
             Spinous Keratinocytes Stratified Epidermis
     
     Hair (Integumentary System)    fully expand to see all 2 entries
             Bulge Stem Cells Bulge
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    IRF6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    IRF6 Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler 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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    OriGene qPCR primer pairs and template standards for IRF6
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    QuantiFast Probe-based Assays in human, mouse, rat IRF6
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IRF6

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for IRF6 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Irf61 , 5 interferon regulatory factor 61, 5 90.44(n)1
    97.64(a)1
      1 (97.60 cM)5
    541391  NM_016851.21  NP_058547.21 
     1931531125 
    chicken
    (Gallus gallus)
    Aves IRF61 interferon regulatory factor 6 78.36(n)
    85.62(a)
      419863  XM_417990.4  XP_417990.4 
    lizard
    (Anolis carolinensis)
    Reptilia IRF66
    interferon regulatory factor 6
    84(a)
    1 ↔ 1
    4(126158202-126177093)
    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 according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for IRF6 gene
    IRF82  IRF22  IRF52  IRF32  IRF42  IRF92  IRF12  IRF72  
    3 SIMAP similar genes for IRF6 using alignment to 3 protein entries:     IRF6_HUMAN (see all proteins):
    IRF5    IRF8    IRF4

    IRF6 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for IRF6 (see all 579)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1214342291,2,,4
    CVan der Woude syndrome 1 (VWS1)4 pathogenic1216780663(-) CACCCA/GGCATA 3 Q R mis1 int10--------
    VAR_0149914
    Popliteal pterygium syndrome (PPS)4--see VAR_0149912 D N mis40--------
    VAR_0149844
    Van der Woude syndrome 1 (VWS1)4--see VAR_0149842 V M mis40--------
    VAR_0149744
    Popliteal pterygium syndrome (PPS)4--see VAR_0149742 K E mis40--------
    VAR_0149894
    Van der Woude syndrome 1 (VWS1)4--see VAR_0149892 C W mis40--------
    VAR_0149864
    Van der Woude syndrome 1 (VWS1)4--see VAR_0149862 L P mis40--------
    VAR_0149644
    Van der Woude syndrome 1 (VWS1)4--see VAR_0149642 P A mis40--------
    VAR_0300544
    Van der Woude syndrome 1 (VWS1)4--see VAR_0300542 E V mis40--------
    VAR_0149684
    Van der Woude syndrome 1 (VWS1)4--see VAR_0149682 G R mis40--------
    VAR_0300484
    Van der Woude syndrome 1 (VWS1)4--see VAR_0300482 L P mis40--------

    HapMap Linkage Disequilibrium report for IRF6 (209958968 - 209979520 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for IRF6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv4343CNV Loss18451855
    nsv873139CNV Gain21882294

    Human Gene Mutation Database (HGMD): IRF6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing IRF6
    DNA2.0 Custom Variant and Variant Library Synthesis for IRF6

    (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.)
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    OMIM gene information: 607199   
    OMIM disorders: 119300  119500  608864  
    UniProtKB/Swiss-Prot: IRF6_HUMAN, O14896
  • Van der Woude syndrome 1 (VWS1) [MIM:119300]: An autosomal dominant developmental disorder characterized
    by lower lip pits, cleft lip and/or cleft palate. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Popliteal pterygium syndrome (PPS) [MIM:119500]: An autosomal dominant disorder characterized by
    oro-facial, skin and genital anomalies. Expressivity is variable. Clinical features include cleft lip/palate,
    lower lip cysts, syngnathia, congenital ankyloblepharon filiforme in some cases, bifid scrotum, hypoplastic
    scrotum, hypoplastic uterus, talipes equinovarus. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Non-syndromic orofacial cleft 6 (OFC6) [MIM:608864]: A 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. Note=Disease susceptibility is associated
    with variations affecting the gene represented in this entry

  • Selected diseases for IRF6 (see all 30):    
    About MalaCards
    cleft palate lateral synechia syndrome    van der woude syndrome    orofacial cleft 6, susceptibility to    popliteal pterygium syndrome 1
    orofacial cleft    irf6-related disorders    popliteal pterygium syndrome    pterygium
    kabuki syndrome    cleft lip +/- cleft palate    tooth agenesis    cleft lip
    cleft palate    tooth agenesis, selective, 1, with or without orofacial cleft    was-related disorders    arrhythmogenic right ventricular dysplasia
    cerebral palsy    dental caries    ectodermal dysplasia    hydrocephalus

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

    IRF6 for disorders           About GeneDecksing

    7 Novoseek inferred 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
    GeneReviews: IRF6
    Genetic Association Database (GAD): IRF6
    Human Genome Epidemiology (HuGE) Navigator: IRF6 (32 documents)

    Export disorders for IRF6 gene to outside databases

    (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

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    PubMed articles for IRF6 gene, integrated from 10 sources (see all 134):
    (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. (Nat. Genet. 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.C. (Mol. Cell. Biol. 2008)
    3. Novel mutations in the IRF6 gene for Van der Woude syndrome. (PubMed id 12920575)1, 2, 9 Wang X.... Kong X. (Hum. Genet. 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. (Hum. Mol. Genet. 2009)
    5. The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population. (PubMed id 19536891)1, 4, 9 Diercks G.R....Haddad J. (Laryngoscope 2009)
    6. Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis. (PubMed id 17318851)1, 4, 9 Vieira A.R....Murray J.C. (Am. J. Med. Genet. A 2007)
    7. Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes. (PubMed id 18209213)1, 4, 9 Pegelow M....Karsten A. (Eur J Orthod 2008)
    8. 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. (N. Engl. J. Med. 2004)
    9. 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. (Mutat. Res. 2004)
    10. Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway. (PubMed id 18278815)1, 4, 9 Jugessur A....Murray J.C. (Genet. Epidemiol. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for IRF6 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=IRF6[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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