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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
  • Alliance
    gene page
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:192835419-192854331 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 97.60 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    527 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1859211
 protein coding gene Chr1:192835419-192854344 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016958
 protein coding gene Chr1:200241890-200260790 (+)
A/J MGP_AJ_G0016937
 protein coding gene Chr1:192002868-192021767 (+)
AKR/J MGP_AKRJ_G0016902
 protein coding gene Chr1:197729836-197748763 (+)
BALB/cJ MGP_BALBcJ_G0016895
 protein coding gene Chr1:192699606-192718515 (+)
C3H/HeJ MGP_C3HHeJ_G0016719
 protein coding gene Chr1:198566375-198585282 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017358
 protein coding gene Chr1:206607198-206626112 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0015065
 protein coding gene Chr1:182877759-182897125 (+)
CAST/EiJ MGP_CASTEiJ_G0016302
 protein coding gene Chr1:198149705-198168604 (+)
CBA/J MGP_CBAJ_G0016693
 protein coding gene Chr1:214241228-214260143 (+)
DBA/2J MGP_DBA2J_G0016799
 protein coding gene Chr1:190721313-190740234 (+)
FVB/NJ MGP_FVBNJ_G0016795
 protein coding gene Chr1:188845717-188864612 (+)
LP/J MGP_LPJ_G0016874
 protein coding gene Chr1:201419224-201438136 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016827
 protein coding gene Chr1:220876875-220895784 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017395
 protein coding gene Chr1:197547625-197567245 (+)
PWK/PhJ MGP_PWKPhJ_G0016089
 protein coding gene Chr1:190042975-190061882 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015865
 protein coding gene Chr1:196577490-196596263 (+)
WSB/EiJ MGP_WSBEiJ_G0016364
 protein coding gene Chr1:197837484-197856457 (+)



Homology
more
  • Human Ortholog
    IRF6, interferon regulatory factor 6
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    IRF6, interferon regulatory factor 6
  • Synonyms
    LPS, OFC6, PIT, PPS, PPS1, VWS, VWS1
  • Links
    NCBI Gene ID: 3664
    neXtProt AC: NX_O14896
    UniProt: O14896

  • Chr Location
    1q32.2; chr1:209785617-209806175 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Irf6 mouse models; 6 with human IRF6 associations

Human Disease Mouse Models
      
IDs
 View 1 model
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    4 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    80 phenotypes from 7 alleles in 9 genetic backgrounds
    19 phenotypes from multigenic genotypes
    4 images
    44 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
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
neoplasm
vision/eye

Click cells to view annotations.
Mice with mutations of Irf6 display craniofacial, limb, and skin defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    40
  • GO References
    12
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1100
  • Tissues
    200
  • cDNA Data
    62
  • Literature Summary
    52
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026638 Ensembl Gene Model | MGI Sequence Detail 18913 C57BL/6J ±  kb
    transcript ENSMUST00000076521 Ensembl | MGI Sequence Detail 4113 Not Applicable  
    polypeptide ENSMUSP00000075839 Ensembl | MGI Sequence Detail 467 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      3 Sequences
    • Protein Ontology
      PR:000002048 interferon regulatory factor 6
      (term hierarchy)
    • InterPro Domains
      IPR019471 Interferon regulatory factor-3
      IPR019817 Interferon regulatory factor, conserved site
      IPR001346 Interferon regulatory factor, DNA-binding domain
      IPR008984 SMAD/FHA domain superfamily
      IPR017855 SMAD-like domain superfamily
      IPR036390 Winged helix DNA-binding domain superfamily
      IPR036388 Winged helix-like DNA-binding domain superfamily
    Molecular
    Reagents
    less
    • All nucleic 68
      cDNA 63
      Primer pair 3
      Other 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2138372, MGI:2443238
    References
    more
    • Summaries
      All 115
      Developmental Gene Expression 52
      Diseases 4
      Gene Ontology 12
      Phenotypes 44
    • 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:358823 Antiguas A, et al., A novel noncanonical function for IRF6 in the recycling of E-cadherin. Mol Biol Cell. 2024 Jul 1;35(7):ar102
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory