Bioinformatics and Systems Medicine Laboratory
General information | Expression | Regulation | Mutation | Interaction

Basic Information

Gene ID

50943

Name

FOXP3

Synonym

AIID|DIETER|IPEX|PIDX|XPID;forkhead box P3;FOXP3;forkhead box P3

Definition

FOXP3delta7|forkhead box protein P3|immune dysregulation, polyendocrinopathy, enteropathy, X-linked|immunodeficiency, polyendocrinopathy, enteropathy, X-linked|scurfin

Position

Xp11.23

Gene Type

protein-coding

Source

Count: 2; Pubmed_search,Generif

Literature support

Count: 4 PubMed records as below.

Evidence Status

Description

potential

"According to this review, FoxP3 is an important tumor suppressor gene in carcinomas and has putative cancer suppressor gene function in cutaneous melanoma as well."

reviewed

Identification of a tumor suppressor relay between the FOXP3 and the Hippo pathways in breast and prostate cancers.

reviewed

FOXP3 as an X-linked tumor suppressor.

reviewed

"FOXP3 is an X-linked prostate tumor suppressor in the male. Because the male has only one X chromosome, our data represent a paradigm of ""single genetic hit"" inactivation-mediated carcinogenesis."
More detail of all 4 literatures about FOXP3

Pathways and Diseases

Pathway

IL2 signaling events mediated by STAT5;PID Curated;200158

Pathway

Calcineurin-regulated NFAT-dependent transcription in lymphocytes;PID Curated;200039

Disease

Other well-defined immunodeficiency syndromes;KEGG DISEASE;H00107

Disease

diabetes, type 1;GAD

Disease

IMMUNE;GAD

Disease

Immune system diseases;KEGG DISEASE

Disease

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked;OMIM

Disease

Diabetes mellitus, type I, susceptibility to;OMIM

Disease

Primary immunodeficiency;KEGG DISEASE

External Links

Links to Entrez Gene

50943

Links to all GeneRIF Items

50943

Links to iHOP

50943

Sequence Information

Nucleotide Sequence

>50943 : length: 1191
atgcccaaccccaggcctggcaagccctcggccccttccttggcccttggcccatcccca
ggagcctcgcccagctggagggctgcacccaaagcctcagacctgctgggggcccggggc
ccagggggaaccttccagggccgagatcttcgaggcggggcccatgcctcctcttcttcc
ttgaaccccatgccaccatcgcagctgcagctctcaacggtggatgcccacgcccggacc
cctgtgctgcaggtgcaccccctggagagcccagccatgatcagcctcacaccacccacc
accgccactggggtcttctccctcaaggcccggcctggcctcccacctgggatcaacgtg
gccagcctggaatgggtgtccagggagccggcactgctctgcaccttcccaaatcccagt
gcacccaggaaggacagcaccctttcggctgtgccccagagctcctacccactgctggca
aatggtgtctgcaagtggcccggatgtgagaaggtcttcgaagagccagaggacttcctc
aagcactgccaggcggaccatcttctggatgagaagggcagggcacaatgtctcctccag
agagagatggtacagtctctggagcagcagctggtgctggagaaggagaagctgagtgcc
atgcaggcccacctggctgggaaaatggcactgaccaaggcttcatctgtggcatcatcc
gacaagggctcctgctgcatcgtagctgctggcagccaaggccctgtcgtcccagcctgg
tctggcccccgggaggcccctgacagcctgtttgctgtccggaggcacctgtggggtagc
catggaaacagcacattcccagagttcctccacaacatggactacttcaagttccacaac
atgcgaccccctttcacctacgccacgctcatccgctgggccatcctggaggctccagag
aagcagcggacactcaatgagatctaccactggttcacacgcatgtttgccttcttcaga
aaccatcctgccacctggaagaacgccatccgccacaacctgagtctgcacaagtgcttt
gtgcgggtggagagcgagaagggggctgtgtggaccgtggatgagctggagttccgcaag
aaacggagccagaggcccagcaggtgttccaaccctacacctggcccctga

Protein Sequence

>50943 : length: 396
MPNPRPGKPSAPSLALGPSPGASPSWRAAPKASDLLGARGPGGTFQGRDLRGGAHASSSS
LNPMPPSQLQLSTVDAHARTPVLQVHPLESPAMISLTPPTTATGVFSLKARPGLPPGINV
ASLEWVSREPALLCTFPNPSAPRKDSTLSAVPQSSYPLLANGVCKWPGCEKVFEEPEDFL
KHCQADHLLDEKGRAQCLLQREMVQSLEQQLVLEKEKLSAMQAHLAGKMALTKASSVASS
DKGSCCIVAAGSQGPVVPAWSGPREAPDSLFAVRRHLWGSHGNSTFPEFLHNMDYFKFHN
MRPPFTYATLIRWAILEAPEKQRTLNEIYHWFTRMFAFFRNHPATWKNAIRHNLSLHKCF
VRVESEKGAVWTVDELEFRKKRSQRPSRCSNPTPGP



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