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Foxp3 Gene Detail
Summary
  • Symbol
    Foxp3
  • Name
    forkhead box P3
  • Synonyms
    JM2, scurfin
  • Feature Type
    protein coding gene
  • IDs
    MGI:1891436
    NCBI Gene: 20371
  • Gene Overview
    MyGene.info: FOXP3
  • Alliance
Location & Maps
more
  • Genetic Map
    Chromosome X, 3.41 cM
  • Mapping Data
    9 experiments
Homology
more
  • Human Ortholog
    FOXP3, forkhead box P3
  • Vertebrate Orthologs
    7
  • Human Ortholog
    FOXP3, forkhead box P3
    Orthology source: HGNC, HomoloGene
  • Synonyms
    AIID, DIETER, IPEX, JM2, PIDX, XPID
  • Links
    NCBI Gene ID: 50943
    neXtProt AC: NX_Q9BZS1
    UniProt: Q9BZS1

  • Chr Location
    Xp11.23; chrX:49250436-49266505 (-)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Foxp3 mouse models; 2 with human FOXP3 associations

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

  • Mutations/Alleles
    2 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    165 phenotypes from 20 alleles in 22 genetic backgrounds
    115 phenotypes from multigenic genotypes
    3 images
    861 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Hemizygous mutant males exhibit scaly skin, reddening and swelling of genital papilla, small undescended testes, depressed platelet and red cell counts, and lymphohistiocytic proliferation in various organs. Mutants die around weaning age.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000016624 VEGA Gene Model | MGI Sequence Detail 15568 C57BL/6J ±  kb
    transcript OTTMUST00000040205 VEGA | MGI Sequence Detail 3832 Not Applicable  
    polypeptide OTTMUSP00000017952 VEGA | MGI Sequence Detail 429 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      62 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 11

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-14368, MGI:98281
    References
    more
    • Summaries
      All 1058
      Developmental Gene Expression 11
      Diseases 6
      Gene Ontology 31
      Phenotypes 861
    • Earliest
      J:13126 Russell WL, et al., Exceptional inheritance of a sex-linked gene in the mouse explained on the basis that the X/O sex-chromosome constitution is female. Proc Natl Acad Sci U S A. 1959 Apr;45(4):554-560
    • Latest
      J:264320 Rogers MC, et al., CD4(+) Regulatory T Cells Exert Differential Functions during Early and Late Stages of the Immune Response to Respiratory Viruses. J Immunol. 2018 Aug 15;201(4):1253-1266

    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
    09/11/2018
    MGI 6.12
    The Jackson Laboratory