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Aliases for IRF6 Gene

Aliases for IRF6 Gene

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

External Ids for IRF6 Gene

Previous Symbols for IRF6 Gene

  • VWS
  • LPS

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 orofacial cleft 6 and cleft palate lateral synechia syndrome. Among its related pathways are Interferon Signaling and Interferon Signaling. GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and regulatory region DNA binding. An important paralog of this gene is IRF3.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for IRF6 Gene

Genomics for IRF6 Gene

Genomic Location for IRF6 Gene

Start:
209,785,623 bp from pter
End:
209,806,175 bp from pter
Size:
20,553 bases
Orientation:
Minus strand

Genomic View for IRF6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for IRF6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for IRF6 Gene

Regulatory Elements 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

Proteomics data for IRF6 Gene at MOPED

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

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for IRF6 Gene

Domains for IRF6 Gene

UniProtKB/Swiss-Prot:

IRF6_HUMAN
Domain:
  • Contains 1 IRF tryptophan pentad repeat DNA-binding domain.:
    • O14896
Family:
  • Belongs to the IRF family.:
    • O14896
genes like me logo Genes that share domains with IRF6: view

No data available for Gene Families for IRF6 Gene

Function for IRF6 Gene

Molecular function for IRF6 Gene

GENATLAS Biochemistry: interferon regulatory factor 6
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).

Gene Ontology (GO) - Molecular Function for IRF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000975 regulatory region DNA binding IEA --
GO:0003677 DNA binding ISS --
GO:0003700 sequence-specific DNA binding transcription factor activity ISS --
GO:0005515 protein binding IPI 16049006
genes like me logo Genes that share ontologies with IRF6: view
genes like me logo Genes that share phenotypes with IRF6: view

Animal Models for IRF6 Gene

MGI Knock Outs for IRF6:

miRNA for IRF6 Gene

miRTarBase miRNAs that target IRF6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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
Jensen Localization Image for IRF6 Gene COMPARTMENTS Subcellular localization image for IRF6 gene
Compartment Confidence
cytosol 4
mitochondrion 3
nucleus 3
extracellular 2
peroxisome 2
endosome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for IRF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IDA 16049006
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with IRF6: view

Pathways for IRF6 Gene

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

Pathways by source for IRF6 Gene

1 Cell Signaling Technology pathway for IRF6 Gene
1 BioSystems pathway for IRF6 Gene

Gene Ontology (GO) - Biological Process for IRF6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated --
GO:0007050 cell cycle arrest IDA 18212048
GO:0008285 negative regulation of cell proliferation IDA 18212048
GO:0019221 cytokine-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with IRF6: view

Transcripts for IRF6 Gene

Unigene Clusters for IRF6 Gene

Interferon regulatory factor 6:
Representative Sequences:

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

No ASD Table

Relevant External Links for IRF6 Gene

GeneLoc Exon Structure for
IRF6
ECgene alternative splicing isoforms for
IRF6

Expression for IRF6 Gene

mRNA expression in normal human tissues 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) (7.7), Skin - Sun Exposed (Lower leg) (7.4), and Esophagus - Mucosa (6.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for IRF6 Gene

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.
genes like me logo Genes that share expressions with IRF6: view

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 36
  • 99.57 (n)
  • 100 (a)
IRF6 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia IRF6 36
  • 93.72 (n)
  • 98.72 (a)
IRF6 37
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia IRF6 36
  • 93.94 (n)
  • 98.92 (a)
IRF6 37
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Irf6 36
  • 90.44 (n)
  • 97.64 (a)
Irf6 16
Irf6 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia IRF6 37
  • 87 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia IRF6 37
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Irf6 36
  • 90.65 (n)
  • 98.29 (a)
chicken
(Gallus gallus)
Aves IRF6 36
  • 78.36 (n)
  • 85.62 (a)
IRF6 37
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia IRF6 37
  • 84 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia xIRF-6 36
tropical clawed frog
(Silurana tropicalis)
Amphibia irf6 36
  • 74.51 (n)
  • 80.66 (a)
Str.6728 36
zebrafish
(Danio rerio)
Actinopterygii irf6 36
  • 69.38 (n)
  • 72.62 (a)
irf6 37
  • 65 (a)
OneToOne
zgc63500 36
Species with no ortholog for IRF6:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

Paralogs for IRF6 Gene

Paralogs for IRF6 Gene

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

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

Variants for IRF6 Gene

Sequence variations from dbSNP and Humsavar for IRF6 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs595918 -- 209,793,498(+) ATTTG(A/G)GAAAG intron-variant
rs599021 -- 209,787,577(+) CTAAC(A/C)CCTGA utr-variant-3-prime
rs614662 -- 209,789,074(+) TAATC(C/T)CAGCA intron-variant
rs622832 -- 209,800,887(-) GAGAG(G/T)TGCTT intron-variant
rs627212 -- 209,795,838(+) AAAAA(A/T)TTTTT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv873139 CNV Gain 21882294
nsv4343 CNV Loss 18451855

Relevant External Links for IRF6 Gene

HapMap Linkage Disequilibrium report
IRF6
Human Gene Mutation Database (HGMD)
IRF6

Disorders for IRF6 Gene

(3) OMIM Diseases for IRF6 Gene (607199)

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}. 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. {ECO:0000269 PubMed:15317890, ECO:0000269 PubMed:21082654}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

(4) University of Copenhagen DISEASES for IRF6 Gene

(7) Novoseek inferred disease relationships for IRF6 Gene

Disease -log(P) Hits PubMed IDs
van der woude syndrome 98.7 43
popliteal pterygium syndrome 96.8 19
cleft lip 89.5 26
cleft palate 87.1 11
hypodontia 79.2 2

Relevant External Links for IRF6

GeneTests
IRF6
GeneReviews
IRF6
Genetic Association Database (GAD)
IRF6
Human Genome Epidemiology (HuGE) Navigator
IRF6
genes like me logo Genes that share disorders with IRF6: view

Publications for IRF6 Gene

  1. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. (PMID: 12219090) Kondo S. … Murray J.C. (Nat. Genet. 2002) 2 3 4 23
  2. Novel mutations in the IRF6 gene for Van der Woude syndrome. (PMID: 12920575) Wang X. … Kong X. (Hum. Genet. 2003) 3 4 23
  3. A novel mutation of the IRF6 gene in an Italian family with Van der Woude syndrome. (PMID: 15013698) Gatta V. … Stuppia L. (Mutat. Res. 2004) 3 23 49
  4. Interferon regulatory factor 6 (IRF6) gene variants and the risk of isolated cleft lip or palate. (PMID: 15317890) Zucchero T.M. … Murray J.C. (N. Engl. J. Med. 2004) 3 4 23
  5. Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. (PMID: 14618417) Kayano S. … Matsubara Y. (J. Hum. Genet. 2003) 3 4 23

Products for IRF6 Gene

Sources for IRF6 Gene

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