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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]
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 Apoptosis Modulation and Signaling and Interferon gamma signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is IRF5.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IEA | -- |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | ISS | -- |
GO:0003700 | DNA-binding transcription factor activity | ISS | -- |
GO:0005515 | protein binding | IPI | 16049006 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 16049006 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Interferon gamma signaling | ||
2 | NF-kappaB Signaling | ||
3 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers | ||
4 | NF-kB(NFkB) Pathway | ||
5 | Cytokine Signaling in Immune system |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002376 | immune system process | IBA | 21873635 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007050 | cell cycle arrest | IDA | 18212048 |
GO:0008285 | negative regulation of cell proliferation | IDA | 18212048 |
GO:0030154 | cell differentiation | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IRF6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IRF6 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IRF6 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IRF6 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Irf6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Irf6 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | IRF6 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IRF6 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IRF6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | irf6 30 |
|
||
Str.6728 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | xIRF-6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | irf6 30 31 |
|
OneToOne | |
zgc63500 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
617619 | Pathogenic: Van der Woude syndrome | 209,790,834(-) | TG/T | FRAMESHIFT_VARIANT | |
643611 | Likely Pathogenic: Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome | 209,790,605(-) | C/T | MISSENSE_VARIANT | |
644879 | Uncertain Significance: Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome | 209,792,271(-) | G/A | MISSENSE_VARIANT | |
650115 | Likely Pathogenic: Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome | 209,796,435(-) | C/G | MISSENSE_VARIANT | |
659301 | Pathogenic: Orofacial cleft 6, susceptibility to; Popliteal pterygium syndrome; Van der Woude syndrome | 209,801,280(-) | CG/C | FRAMESHIFT_VARIANT,INTRON_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv144e212 | CNV | loss | 25503493 |
nsv1006632 | CNV | gain | 25217958 |
nsv4343 | CNV | deletion | 18451855 |
nsv945273 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
popliteal pterygium syndrome |
|
|
van der woude syndrome 1 |
|
|
orofacial cleft 6 |
|
|
cleft palate, isolated |
|
|
tooth agenesis |
|