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. ... See more...

Aliases for IRF6 Gene

Aliases for IRF6 Gene

  • Interferon Regulatory Factor 6 2 3 4 5
  • OFC6 2 3
  • VWS1 2 3
  • Van Der Woude Syndrome 2
  • IRF-6 4
  • PPS1 3
  • IRF6 5
  • LPS 3
  • PIT 3
  • PPS 3
  • VWS 3

External Ids for IRF6 Gene

Previous HGNC Symbols for IRF6 Gene

  • VWS
  • LPS

Previous GeneCards Identifiers for IRF6 Gene

  • GC01M208600
  • GC01M205667
  • GC01M206600
  • GC01M207040
  • GC01M206349
  • GC01M208025
  • GC01M209959
  • GC01M180637

Summaries for IRF6 Gene

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 Popliteal Pterygium Syndrome and Van Der Woude Syndrome 1. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Immune response IFN alpha/beta signaling pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is IRF5.

UniProtKB/Swiss-Prot Summary for IRF6 Gene

  • 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

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for IRF6 Gene

Genomics for IRF6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IRF6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J209800 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 278.5 +0.3 252 10.2 NCOR1 IKZF1 ZNF600 SIX5 JUND ATF2 ZNF10 NFIC POLR2A YY1 IRF6 TRAF3IP3 UTP25 SYT14 LAMB3 lnc-C1orf74-1 C1orf74
GH01J209782 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 20.7 +20.5 20528 6 SP1 ZNF207 MYC ZNF600 SIX5 JUND ZNF592 ATF2 POLR2A ATF3 C1orf74 TRAF3IP3 IRF6 SYT14 lnc-C1orf74-1
GH01J209822 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 21.1 -20.0 -19987 7.3 BCLAF1 ZNF654 ZNF207 NCOR1 ZNF600 IKZF1 MYC SSRP1 ZNF592 KLF9 UTP25 lnc-IRF6-2 IRF6 SYT14 C1orf74 HSD11B1-AS1 TRAF3IP3 RF00017-405 HSALNG0010228
GH01J209814 Enhancer 1.4 VISTA FANTOM5 Ensembl ENCODE dbSUPER 17.6 -9.9 -9922 3.9 ETV4 BCL6 SOX5 ZSCAN4 GATAD2A TCF7 ZNF687 GABPA MNT HSALNG0010228 IRF6 C1orf74 HSD11B1-AS1 SYT14 LAMB3 UTP25
GH01J209795 Enhancer 0.9 Ensembl ENCODE dbSUPER 25.2 +9.2 9169 3.3 CTCF MAFF ZNF316 TAL1 MAFK SPI1 MAFG ZSCAN4 SOX6 PRDM10 IRF6 UTP25 TRAF3IP3 SYT14 lnc-C1orf74-1 C1orf74
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around IRF6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for IRF6

Top Transcription factor binding sites by QIAGEN in the IRF6 gene promoter:
  • ATF
  • GR
  • GR-alpha
  • GR-beta
  • Meis-1
  • p53
  • POU2F1
  • POU2F1a
  • RelA

Genomic Locations for IRF6 Gene

Latest Assembly
chr1:209,785,617-209,806,175
(GRCh38/hg38)
Size:
20,559 bases
Orientation:
Minus strand

Previous Assembly
chr1:209,958,962-209,979,487
(GRCh37/hg19 by Entrez Gene)
Size:
20,526 bases
Orientation:
Minus strand

chr1:209,959,036-209,979,465
(GRCh37/hg19 by Ensembl)
Size:
20,430 bases
Orientation:
Minus strand

Genomic View for IRF6 Gene

Genes around IRF6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
IRF6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for IRF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRF6 Gene

Proteins for IRF6 Gene

  • Protein details for IRF6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14896-IRF6_HUMAN
    Recommended name:
    Interferon regulatory factor 6
    Protein Accession:
    O14896
    Secondary Accessions:
    • B4DLE2
    • D3DT90
    • F5GWX8
    • G0ZTL0

    Protein attributes for IRF6 Gene

    Size:
    467 amino acids
    Molecular mass:
    53130 Da
    Quaternary structure:
    • Interacts with SERPINB5.

    Alternative splice isoforms for IRF6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for IRF6 Gene

Post-translational modifications for IRF6 Gene

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

Other Protein References for IRF6 Gene

No data available for DME Specific Peptides for IRF6 Gene

Domains & Families for IRF6 Gene

Gene Families for IRF6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for IRF6 Gene

GenScript: Design optimal peptide antigens:
  • Interferon regulatory factor 6 (IRF6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14896

UniProtKB/Swiss-Prot:

IRF6_HUMAN :
  • Belongs to the IRF family.
Family:
  • Belongs to the IRF family.
genes like me logo Genes that share domains with IRF6: view

Function for IRF6 Gene

Molecular function for IRF6 Gene

UniProtKB/Swiss-Prot 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:
interferon regulatory factor 6

Phenotypes From GWAS Catalog for IRF6 Gene

Gene Ontology (GO) - Molecular Function for IRF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IEA --
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding ISS --
genes like me logo Genes that share ontologies with IRF6: view
genes like me logo Genes that share phenotypes with IRF6: view

Human Phenotype Ontology for IRF6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for IRF6 Gene

MGI Knock Outs for IRF6:
  • Irf6 Irf6<tm1.1Bcsl>

miRNA for IRF6 Gene

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for IRF6 Gene

Localization for IRF6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for IRF6 Gene

Nucleus. Cytoplasm. Note=Translocates to nucleus in response to an activating signal. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for IRF6 gene
Compartment Confidence
nucleus 5
extracellular 4
cytosol 4
mitochondrion 3
plasma membrane 2
cytoskeleton 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for IRF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IEA,IDA 16049006
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IRF6: view

Pathways & Interactions for IRF6 Gene

genes like me logo Genes that share pathways with IRF6: view

Gene Ontology (GO) - Biological Process for IRF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002376 immune system process IBA 21873635
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0007050 cell cycle arrest IDA 18212048
GO:0008285 negative regulation of cell proliferation IDA 18212048
genes like me logo Genes that share ontologies with IRF6: view

No data available for SIGNOR curated interactions for IRF6 Gene

Drugs & Compounds for IRF6 Gene

(2) Drugs for IRF6 Gene - From: PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Interferon beta-1a Approved, Investigational Pharma 229
Interferon beta-1b Approved Pharma 100
genes like me logo Genes that share compounds with IRF6: view

Transcripts for IRF6 Gene

mRNA/cDNA for IRF6 Gene

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for IRF6

Alternative Splicing Database (ASD) splice patterns (SP) for IRF6 Gene

No ASD Table

Relevant External Links for IRF6 Gene

GeneLoc Exon Structure for
IRF6

Expression for IRF6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for IRF6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IRF6 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.7), Skin - Sun Exposed (Lower leg) (x7.4), and Esophagus - Mucosa (x6.3).

Protein differential expression in normal tissues from HIPED for IRF6 Gene

This gene is overexpressed in Adrenal (16.0), Salivary gland (12.5), and Tonsil (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for IRF6 Gene



Protein tissue co-expression partners for IRF6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for IRF6

SOURCE GeneReport for Unigene cluster for IRF6 Gene:

Hs.591415

mRNA Expression by UniProt/SwissProt for IRF6 Gene:

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

Evidence on tissue expression from TISSUES for IRF6 Gene

  • Skin(3)
  • Intestine(2.8)
  • Nervous system(2.4)
  • Muscle(2.2)
  • Kidney(2.2)
  • Heart(2.2)
  • Liver(2.2)
  • Blood(2.1)
  • Lung(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for IRF6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • chin
  • eye
  • eyelid
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • testicle
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • hair
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with IRF6: view

Primer products for research

Orthologs for IRF6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for IRF6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IRF6 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IRF6 29 30
  • 93.94 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IRF6 29 30
  • 93.72 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia IRF6 30
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Irf6 29
  • 90.65 (n)
Mouse
(Mus musculus)
Mammalia Irf6 29 16 30
  • 90.44 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia IRF6 30
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IRF6 29 30
  • 78.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IRF6 30
  • 84 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia irf6 29
  • 74.51 (n)
Str.6728 29
African clawed frog
(Xenopus laevis)
Amphibia xIRF-6 29
Zebrafish
(Danio rerio)
Actinopterygii irf6 29 30
  • 69.38 (n)
OneToOne
zgc63500 29
Species where no ortholog for IRF6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IRF6 Gene

ENSEMBL:
Gene Tree for IRF6 (if available)
TreeFam:
Gene Tree for IRF6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IRF6: view image
Alliance of Genome Resources:
Additional Orthologs for IRF6

Paralogs for IRF6 Gene

Paralogs for IRF6 Gene

(3) SIMAP similar genes for IRF6 Gene using alignment to 3 proteins:

  • IRF6_HUMAN
  • B1AJU4_HUMAN
  • G0Z349_HUMAN
genes like me logo Genes that share paralogs with IRF6: view

Variants for IRF6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for IRF6 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1006033 Uncertain Significance: van der Woude syndrome 1; Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome 209,790,736(-) C/G
NM_006147.4(IRF6):c.819G>C (p.Gln273His)
MISSENSE
1012760 Pathogenic: not provided 209,789,716(-) TCC/T
NM_006147.4(IRF6):c.1128_1129del (p.Glu377fs)
FRAMESHIFT
1014137 Uncertain Significance: van der Woude syndrome 1; Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome 209,788,554(-) A/C
NM_006147.4(IRF6):c.1270T>G (p.Ser424Ala)
MISSENSE
1018738 Uncertain Significance: van der Woude syndrome 1; Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome 209,790,801(-) A/C
NM_006147.4(IRF6):c.754T>G (p.Phe252Val)
MISSENSE
1019576 Uncertain Significance: van der Woude syndrome 1; Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome 209,789,708(-) G/A
NM_006147.4(IRF6):c.1138C>T (p.Pro380Ser)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for IRF6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for IRF6 Gene

Variant ID Type Subtype PubMed ID
dgv144e212 CNV loss 25503493
nsv1006632 CNV gain 25217958
nsv4343 CNV deletion 18451855
nsv945273 CNV duplication 23825009

Variation tolerance for IRF6 Gene

Residual Variation Intolerance Score: 27.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.82; 79.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IRF6 Gene

Human Gene Mutation Database (HGMD)
IRF6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
IRF6
Leiden Open Variation Database (LOVD)
IRF6

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for IRF6 Gene

Disorders for IRF6 Gene

MalaCards: The human disease database

(34) MalaCards diseases for IRF6 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
popliteal pterygium syndrome
  • pps
van der woude syndrome 1
  • vws1
orofacial cleft 6
  • orofacial cleft 6, susceptibility to
cleft palate, isolated
  • cpi
tooth agenesis
  • familial tooth agenesis
- elite association - COSMIC cancer census association via MalaCards
Search IRF6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

IRF6_HUMAN
  • Van der Woude syndrome 1 (VWS1) [MIM:119300]: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate. {ECO:0000269 PubMed:12219090, ECO:0000269 PubMed:12920575, ECO:0000269 PubMed:14618417, ECO:0000269 PubMed:14640121, ECO:0000269 PubMed:15300989, ECO:0000269 PubMed:17122170, ECO:0000269 PubMed:18478600, ECO:0000269 PubMed:19036739}. Note=The disease is caused by variants 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. {ECO:0000269 PubMed:12219090, ECO:0000269 PubMed:14640121, ECO:0000269 PubMed:19036739, ECO:0000269 PubMed:20803643}. Note=The disease is caused by variants 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. {ECO:0000269 PubMed:15317890, ECO:0000269 PubMed:21082654}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Additional Disease Information for IRF6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with IRF6: view

No data available for Genatlas for IRF6 Gene

Publications for IRF6 Gene

  1. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. (PMID: 12219090) Kondo S … Murray JC (Nature genetics 2002) 2 3 4 22 72
  2. Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. (PMID: 19036739) Little HJ … Shore P (Human molecular genetics 2009) 3 4 22 72
  3. Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations. (PMID: 17438386) Park JW … Beaty TH (Genetics in medicine : official journal of the American College of Medical Genetics 2007) 3 22 40 72
  4. Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population. (PMID: 19780991) Paranaíba LM … Coletta RD (Oral diseases 2010) 3 22 40
  5. IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate. (PMID: 20121942) Birnbaum S … Mangold E (European journal of oral sciences 2009) 3 22 40

Products for IRF6 Gene

Sources for IRF6 Gene