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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
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

  • Chr Location
    Xp11.23; chrX:49250436-49269727 (-)  GRCh38.p2

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

Human Disease Mouse Models
       Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked;   OMIM: 304790 View 2 models
       Ichthyosis and Male Hypogonadism   OMIM: 308200 View 1 model
Ichthyosis, X-Linked; XLI   OMIM: 308100
Wiskott-Aldrich Syndrome; WAS   OMIM: 301000 View 1 model
       Diabetes Mellitus, Insulin-Dependent; IDDM   OMIM: 222100
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    6 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    163 phenotypes from 19 alleles in 20 genetic backgrounds
    107 phenotypes from multigenic genotypes
    3 images
    674 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.
  • All Mutations and Alleles
    29
  • Chemically induced (ENU)
    1
  • Spontaneous
    1
  • Targeted
    26
  • Transgenic
    1
  • Incidental Mutations
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
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 OTTMUSG00000016624 VEGA Gene Model | MGI Sequence Detail 15568 C57BL/6J ±  kb
transcript OTTMUST00000040221 VEGA | MGI Sequence Detail 3739 Not Applicable  
polypeptide OTTMUSP00000017961 VEGA | MGI Sequence Detail 429 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    62 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 10
    cDNA 10

    Microarray probesets 4
Other
Accession IDs
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MGD-MRK-14368, MGI:98281
References
more
  • Summaries
    All 730
    Developmental Gene Expression 9
    Diseases 6
    Gene Ontology 31
    Phenotypes 674
  • 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:232395 Serr I, et al., Type 1 diabetes vaccine candidates promote human Foxp3(+)Treg induction in humanized mice. Nat Commun. 2016;7:10991

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
07/19/2016
MGI 6.04
The Jackson Laboratory