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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
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:7579676-7595243 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome X, 3.41 cM
  • Mapping Data
    9 experiments
Strain
Comparison
more
  • SNPs within 2kb
    62 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:7579676-7595243 (.)
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
    7
  • Human Ortholog
    FOXP3, forkhead box P3
    Orthology source: HomoloGene, HGNC
  • 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
less
  • Phenotype Summary
    165 phenotypes from 20 alleles in 22 genetic backgrounds
    115 phenotypes from multigenic genotypes
    3 images
    880 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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    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 3832 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 1076
      Developmental Gene Expression 11
      Diseases 6
      Gene Ontology 31
      Phenotypes 880
    • 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:266093 Yu X, et al., Metabolic control of regulatory T cell stability and function by TRAF3IP3 at the lysosome. J Exp Med. 2018 Sep 3;215(9):2463-2476

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory