Irf6 interferon regulatory factor 6 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Irf6provided by MGI
Official Full Name: interferon regulatory factor 6provided by MGI
Primary source: MGI:MGI:1859211
See related: Ensembl:ENSMUSG00000026638 AllianceGenome:MGI:1859211
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: mirf6; E230028I05Rik
Summary: Enables DNA binding activity and DNA-binding transcription activator activity, RNA polymerase II-specific. Involved in positive regulation of transcription, DNA-templated. Acts upstream of or within several processes, including epithelial cell differentiation; keratinocyte proliferation; and roof of mouth development. Predicted to be located in cell junction; cytosol; and nucleoplasm. Predicted to be active in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; non-neural ectoderm; sensory organ; and skin. Used to study Van der Woude syndrome; cleft lip; and popliteal pterygium syndrome. Human ortholog(s) of this gene implicated in several diseases, including Van der Woude syndrome; cleft lip; orofacial cleft 6; popliteal pterygium syndrome; and syndactyly. Orthologous to human IRF6 (interferon regulatory factor 6). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Broad expression in large intestine adult (RPKM 19.7), colon adult (RPKM 15.5) and 16 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H6; 1 97.6 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (192835420..192854344)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (193153112..193172036)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Promotion of BST2 expression by the transcription factor IRF6 affects the progression of endometriosis.
Title: Promotion of BST2 expression by the transcription factor IRF6 affects the progression of endometriosis.
An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates.
Title: An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates.
IRF6 and TAK1 coordinately promote the activation of HIPK2 to stimulate apoptosis during palate fusion.
Title: IRF6 and TAK1 coordinately promote the activation of HIPK2 to stimulate apoptosis during palate fusion.
these data suggest that the Tfap2a-Irf6-Grhl3 genetic pathway is shared by two embryologically distinct morphogenetic events that previously were considered independent during mammalian development
Title: The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.
role of Irf6 in regulating bone differentiation and mineralization
Title: A cleft lip and palate gene, Irf6, is involved in osteoblast differentiation of craniofacial bone.
results explain how RIPK4 and IRF6 function to ensure the integrity of the epidermis and provide mechanistic insights into why developmental syndromes that are characterized by orofacial, skin and genital abnormalities result when this axis goes awry
Title: The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.
this study shows that IRF6 and AP2A interaction regulates epidermal development
Title: IRF6 and AP2A Interaction Regulates Epidermal Development.
we observed that deficiencies in Irf6 can lead to mandibular hypoplasia and cleft palate.
Title: Intercellular Genetic Interaction Between Irf6 and Twist1 during Craniofacial Development.
we identified IRF6 as a novel PPARgamma co-suppressor that serves a key role in suppressing PPARgamma-mediated cerebrovascular endothelial cytoprotection following ischemia.
Title: The Transcription Factor IRF6 Co-Represses PPARγ-Mediated Cytoprotection in Ischemic Cerebrovascular Endothelial Cells.
IRF6 expression in basal epithelium partially rescues Irf6 knockout mice
Title: IRF6 expression in basal epithelium partially rescues Irf6 knockout mice.

Submit: New GeneRIF Correction See all GeneRIFs (36)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1) 1 citation
Endonuclease-mediated (2)
Gene trapped (1)
Targeted (9) 1 citation

General gene information

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Markers

AI876454 (e-PCR)
- UniSTS:178557

D1S3693 (e-PCR)
- UniSTS:474271

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables sequence-specific double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables transcription cis-regulatory region binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within cell differentiation	IEA Inferred from Electronic Annotation more info
acts_upstream_of cell population proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cranial skeletal system development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in immune system process	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within keratinocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of keratinocyte proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within keratinocyte proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within keratinocyte proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within limb development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mammary gland epithelial cell differentiation	IEP Inferred from Expression Pattern more info	PubMed
involved_in negative regulation of cell population proliferation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within negative regulation of keratinocyte proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within negative regulation of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skin development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skin development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within stem cell proliferation	IGI Inferred from Genetic Interaction more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: interferon regulatory factor 6

Names: IRF-6

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_016851.2 → NP_058547.2 interferon regulatory factor 6

See identical proteins and their annotated locations for NP_058547.2

Status: VALIDATED

Source sequence(s)

AK143954, BP774622, BY100044

Consensus CDS

CCDS15632.1

UniProtKB/Swiss-Prot

P97431, Q91VD0

UniProtKB/TrEMBL

Q3UEJ9

Related

ENSMUSP00000075839.6, ENSMUST00000076521.7

Conserved Domains (2) summary

pfam00605
Location:9 → 114

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:224 → 407

IRF-3; Interferon-regulatory factor 3

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

192835420..192854344

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006497263.4 → XP_006497326.1 interferon regulatory factor 6 isoform X1

See identical proteins and their annotated locations for XP_006497326.1

UniProtKB/Swiss-Prot

P97431, Q91VD0

UniProtKB/TrEMBL

Q3UEJ9

Conserved Domains (2) summary

pfam00605
Location:9 → 114

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:224 → 407

IRF-3; Interferon-regulatory factor 3
XM_006497262.4 → XP_006497325.1 interferon regulatory factor 6 isoform X1

See identical proteins and their annotated locations for XP_006497325.1

UniProtKB/Swiss-Prot

P97431, Q91VD0

UniProtKB/TrEMBL

Q3UEJ9

Conserved Domains (2) summary

pfam00605
Location:9 → 114

IRF; Interferon regulatory factor transcription factor

pfam10401
Location:224 → 407

IRF-3; Interferon-regulatory factor 3

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_178083.2: Suppressed sequence

Description

NM_178083.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.