FOXP3
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_014009.2 Gene Symbol FOXP3
Protein Name Forkhead box p3
Alternate Names AIID, DIETER, IPEX, JM2, MGC141961, MGC141963, PIDX, XPID
Gene Locus Xp11.23

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
78 02242 300292 50943 -
 6106 ENSG00000049768 Q9BZS1 FOXP3

Disease name Characteristic / Associated features Category inheritance type
X-linked immunodeficiency, polyendocrinopathy, enteropathy Diarrhea, secretory; Enteropathy; Ileus; Biopsy shows villous atrophy; Chronic inflammation; Eczema; Atopy; Insulin-dependent diabetes mellitus (type I); Hypothyroidism; Hemolytic anemia, autoimmune; Thrombocytopenia; Immune dysregulation; Variable autoimmune disorders; Lymphadenopathy; Autoantibodies; reduced numbers of CD4+CD25+CD127low T cells; elevated serum IgA; elevated serum IgE; autoimmune enteropathy Diseases of Immune Dysregulation X-linked recessive