IRF6

IRF6
Identifiers
Aliases	IRF6, LPS, OFC6, PIT, PPS, PPS1, VWS, VWS1, interferon regulatory factor 6
External IDs	OMIM: 607199; MGI: 1859211; HomoloGene: 4479; GeneCards: IRF6; OMA:IRF6 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	209,806,175 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	192,854,331 bp
RNA expression pattern
	Top expressed in
	secondary oocyte; ; skin of thigh; ; gingival epithelium; ; skin of abdomen; ; skin of hip; ; pancreatic ductal cell; ; hair follicle; ; skin of arm; ; olfactory zone of nasal mucosa; ; mucosa of ileum;
	Top expressed in
	corneal stroma; ; conjunctival fornix; ; Paneth cell; ; epidermis; ; urothelium; ; hair follicle; ; transitional epithelium of urinary bladder; ; epithelium of stomach; ; skin of back; ; ileum;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; DNA-binding transcription factor activity; protein binding; DNA-binding transcription activator activity, RNA polymerase II-specific; sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	cytoplasm; extracellular exosome; nucleus; cytosol; cell junction;
Biological process	cell differentiation; regulation of transcription, DNA-templated; cell development; interferon-gamma-mediated signaling pathway; transcription, DNA-templated; mammary gland epithelial cell differentiation; keratinocyte differentiation; positive regulation of transcription, DNA-templated; keratinocyte proliferation; type I interferon signaling pathway; skin development; negative regulation of cell population proliferation; transcription by RNA polymerase II; positive regulation of transcription by RNA polymerase II; immune system process; roof of mouth development;
	Sources:Amigo / QuickGO
Orthologs
	3664
	54139
	ENSG00000117595
	ENSMUSG00000026638
	O14896
	P97431
	NM_006147; NM_001206696
	NM_016851; NM_178083
	NP_001193625; NP_006138
	NP_058547
	Wikidata
View/Edit Human	View/Edit Mouse

Interferon regulatory factor 6 also known as IRF6 is a protein that in humans is encoded by the IRF6 gene.^[5]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000117595 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000026638 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC (October 2002). "Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes". Nat. Genet. 32 (2): 285–9. doi:10.1038/ng985. PMC 3169431. PMID 12219090.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000117595 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000026638 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid12219090-5] Kondo S, Schutte BC, Richardson RJ, Bjork BC, Knight AS, Watanabe Y, Howard E, de Lima RL, Daack-Hirsch S, Sander A, McDonald-McGinn DM, Zackai EH, Lammer EJ, Aylsworth AS, Ardinger HH, Lidral AC, Pober BR, Moreno L, Arcos-Burgos M, Valencia C, Houdayer C, Bahuau M, Moretti-Ferreira D, Richieri-Costa A, Dixon MJ, Murray JC (October 2002). "Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes". Nat. Genet. 32 (2): 285–9. doi:10.1038/ng985. PMC 3169431. PMID 12219090.

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