The FOXP3 gene homepage

General information
Gene symbol FOXP3
Gene name forkhead box P3
Chromosome X
Chromosomal band p11.23
Imprinted Unknown
Genomic reference LRG_62
Transcript reference NM_014009.3
Associated with diseases IDDM, IPEX
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 129
Unique public DNA variants reported 103
Individuals with public variants 106
Hidden variants 12
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated February 26, 2024
Version FOXP3:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 6106
Entrez Gene 50943
PubMed articles FOXP3
OMIM - Gene 300292
OMIM - Diseases IDDM (diabetes mellitus, insulin-dependent (IDDM))
IPEX (immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX))
HGMD FOXP3
GeneCards FOXP3
GeneTests FOXP3
Orphanet FOXP3


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000641 X transcript variant 1 NM_014009.3 NP_054728.2 129


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