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Irf6 Gene Detail
Summary
  • Symbol
    Irf6
  • Name
    interferon regulatory factor 6
  • Synonyms
    E230028I05Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1859211
    NCBI Gene: 54139
  • Gene Overview
    MyGene.info: IRF6
Location & Maps
more
  • Sequence Map
    Chr1:193153111-193172023 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18913 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    IRF6, interferon regulatory factor 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    IRF6, interferon regulatory factor 6
    Orthology source: HomoloGene
  • Synonyms
    LPS, OFC6, PIT, PPS, PPS1, VWS, VWS1
  • Links
    NCBI Gene ID: 3664
    neXtProt AC: NX_O14896

  • Chr Location
    1q32.3-q41; chr1:209785623-209806175 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with Irf6 mouse models; 3 with human IRF6 associations

Human Disease Mouse Models
       Popliteal Pterygium Syndrome; PPS   OMIM: 119500 View 2 models
Van Der Woude Syndrome 1; VWS1   OMIM: 119300 View 1 model
       Orofacial Cleft 6, Susceptibility To; OFC6   OMIM: 608864
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    59 phenotypes from 5 alleles in 7 genetic backgrounds
    19 phenotypes from multigenic genotypes
    4 images
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Targeted
    5
  • Incidental Mutations
Mice with mutations of Irf6 display craniofacial, limb, and skin defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000033402 VEGA Gene Model | MGI Sequence Detail 18913 C57BL/6J ±  kb
transcript OTTMUST00000083863 VEGA | MGI Sequence Detail 4113 Not Applicable  
polypeptide OTTMUSP00000045120 VEGA | MGI Sequence Detail 467 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    283 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000002048 interferon regulatory factor 6
  • InterPro Domains
    IPR019471 Interferon regulatory factor-3
    IPR019817 Interferon regulatory factor, conserved site
    IPR001346 Interferon regulatory factor DNA-binding domain
    IPR017855 SMAD domain-like
    IPR008984 SMAD/FHA domain
    IPR011991 Winged helix-turn-helix DNA-binding domain
Molecular
Reagents
less
  • All nucleic 61
    cDNA 60
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2138372, MGI:2443238
References
more
  • Summaries
    All 69
    Developmental Gene Expression 30
    Diseases 3
    Gene Ontology 6
    Phenotypes 20
  • Earliest
    J:46940 Zambrowicz BP, et al., Disruption and sequence identification of 2,000 genes in mouse embryonic stem cells. Nature. 1998 Apr 9;392(6676):608-11
  • Latest
    J:226941 Akerberg BN, et al., Endocardial Brg1 disruption illustrates the developmental origins of semilunar valve disease. Dev Biol. 2015 Nov 1;407(1):158-72

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
05/17/2016
MGI 6.03
The Jackson Laboratory