FOXP3 forkhead box P3

Gene ID: 50943, updated on 2-Nov-2024
Gene type: protein coding
Also known as: JM2; AIID; IPEX; PIDX; XPID; DIETER

Summary

The protein encoded by this gene is a member of the forkhead/winged-helix family of transcriptional regulators. Defects in this gene are the cause of immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), also known as X-linked autoimmunity-immunodeficiency syndrome. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Insulin-dependent diabetes mellitus secretory diarrhea syndrome MedGen: C0342288OMIM: 304790GeneReviews: IPEX Syndrome	not available

Genomic context

Location:: Xp11.23

Sequence:: Chromosome: X; NC_000023.11 (49250438..49264710, complement)

Total number of exons:: 12

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for FOXP3 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

CCHMC - Human Genetics Mutation Database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
FOXP3 @ LOVD
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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