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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
  • Alliance
    gene page
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7445915-7461482 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 3.41 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    369 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1891436
 protein coding gene ChrX:7439883-7461484 (+)
129S1/SvImJ MGP_129S1SvImJ_G0035512
 protein coding gene ChrX:2189764-2206490 (+)
A/J MGP_AJ_G0035490
 protein coding gene ChrX:2152339-2167850 (+)
AKR/J MGP_AKRJ_G0035423
 protein coding gene ChrX:2254674-2270157 (+)
BALB/cJ MGP_BALBcJ_G0035486
 protein coding gene ChrX:2171526-2187458 (+)
C3H/HeJ MGP_C3HHeJ_G0035194
 protein coding gene ChrX:2225742-2242319 (+)
C57BL/6NJ MGP_C57BL6NJ_G0036010
 protein coding gene ChrX:2268170-2285428 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0032885
 protein coding gene ChrX:1721018-1736727 (+)
CAST/EiJ MGP_CASTEiJ_G0034494
 protein coding gene ChrX:2126854-2142312 (+)
CBA/J MGP_CBAJ_G0035164
 protein coding gene ChrX:2380527-2398632 (+)
DBA/2J MGP_DBA2J_G0035321
 protein coding gene ChrX:2173207-2189840 (+)
FVB/NJ MGP_FVBNJ_G0035268
 protein coding gene ChrX:2137937-2153627 (+)
LP/J MGP_LPJ_G0035398
 protein coding gene ChrX:2193626-2209534 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0035307
 protein coding gene ChrX:2346532-2363053 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0036028
 protein coding gene ChrX:2173500-2190117 (+)
PWK/PhJ MGP_PWKPhJ_G0034196
 protein coding gene ChrX:2105418-2120994 (+)
SPRET/EiJ MGP_SPRETEiJ_G0034033
 protein coding gene ChrX:2145203-2160575 (+)
WSB/EiJ MGP_WSBEiJ_G0034617
 protein coding gene ChrX:2177088-2193366 (+)



Homology
more
  • Human Ortholog
    FOXP3, forkhead box P3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FOXP3, forkhead box P3
  • Synonyms
    AIID, DIETER, IPEX, JM2, PIDX, XPID
  • Links
    NCBI Gene ID: 50943
    neXtProt AC: NX_Q9BZS1
    UniProt: Q9BZS1

  • Chr Location
    Xp11.23; chrX:49250438-49264800 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with Foxp3 mouse models; 5 with human FOXP3 associations

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

  • Mutations/Alleles
    3 with disease annotations
  • References
    7 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    156 phenotypes from 17 alleles in 20 genetic backgrounds
    162 phenotypes from multigenic genotypes
    3 images
    1659 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.
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
less
  • All GO Annotations
    176
  • GO References
    36
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
    933
  • Tissues
    178
  • cDNA Data
    11
  • Literature Summary
    18
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 20371 NCBI Gene Model | MGI Sequence Detail 15568 C57BL/6J ±  kb
    transcript NM_001199347 RefSeq | MGI Sequence Detail 3837 C57BL/6  
    polypeptide Q99JB6 UniProt | EBI | MGI Sequence Detail 429 Not Applicable  
    For the selected sequence
    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 1886
      Developmental Gene Expression 18
      Diseases 7
      Gene Ontology 36
      Phenotypes 1659
    • 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:354980 Peeters JGC, et al., Hyperactivating EZH2 to augment H3K27me3 levels in regulatory T cells enhances immune suppression by driving early effector differentiation. Cell Rep. 2024 Sep 24;43(9):114724
    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)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/12/2024
    MGI 6.24     		The Jackson Laboratory