Regulator

Summary of regulator annotations and link-out to annotation databases

Basic gene annotations are collected from Uniprot and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser is available.

FOXP3 - forkhead box P3

Function

Transcriptional regulator which is crucial for the development and inhibitory function of regulatory T-cells (Treg) (PubMed:17377532, PubMed:21458306, PubMed:30513302, PubMed:23947341, PubMed:24354325, PubMed:24722479, PubMed:24835996, PubMed:32644293). Plays an essential role in maintaining homeostasis of the immune system by allowing the acquisition of full suppressive function and stability of the Treg lineage, and by directly modulating the expansion and function of conventional T-cells (PubMed:23169781). Can act either as a transcriptional repressor or a transcriptional activator depending on its interactions with other transcription factors, histone acetylases and deacetylases (PubMed:17377532, PubMed:21458306, PubMed:23947341, PubMed:24354325, PubMed:24722479). The suppressive activity of Treg involves the coordinate activation of many genes, including CTLA4 and TNFRSF18 by FOXP3 along with repression of genes encoding cytokines such as interleukin-2 (IL2) and interferon-gamma (IFNG) (PubMed:17377532, PubMed:21458306, PubMed:23947341, PubMed:24354325, PubMed:24722479). Inhibits cytokine production and T-cell effector function by repressing the activity of two key transcription factors, RELA and NFATC2 (PubMed:15790681). Mediates transcriptional repression of IL2 via its association with histone acetylase KAT5 and histone deacetylase HDAC7 (PubMed:17360565). Can activate the expression of TNFRSF18, IL2RA and CTLA4 and repress the expression of IL2 and IFNG via its association with transcription factor RUNX1 (PubMed:17377532). Inhibits the differentiation of IL17 producing helper T-cells (Th17) by antagonizing RORC function, leading to down-regulation of IL17 expression, favoring Treg development (PubMed:18368049). Inhibits the transcriptional activator activity of RORA (PubMed:18354202). Can repress the expression of IL2 and IFNG via its association with transcription factor IKZF4 (By similarity).

Uniprot Browser
Entrez IDEnsEMBL IDPreferred NameUniprot ID
50943 ENSG00000049768 FOXP3 Q9BZS1

List of causal flows containing the regulator.

Causal Flows are statistically significant links between putative causal events (somatic mutations, copy number variations, chromosomal translocations, etc.) and the activity levels of regulators and regulons. In the causal flow, a mutation may causally activate or deactivate a downstream regulator which then might up- down-regulates a regulonthat contains genes with similar expression profiles and binding sites.

Causal Mechanistic Flows with ENSG00000049768 as Regulator

IDMutationRoleRegulatorRoleRegulon# downstream regulons# diffexp regulonsDrugs
CMF-01761ATP2B2down-regulatesFOXP3repressesR-1956121Drugs (0)

Regulator Drugs (0)

Regulon Drugs (0)

CMF-02441IGF2BP1up-regulatesFOXP3repressesR-1956121Drugs (0)

Regulator Drugs (0)

Regulon Drugs (0)

CMF-05414KDELC2down-regulatesFOXP3repressesR-1950122Drugs (5)

Regulator Drugs (0)

Regulon Drugs (5)

PRAMLINTIDE, OLECLUMAB, BELZUTIFAN, PRAMLINTIDE ACETATE, DAVALINTIDE

CMF-09386CUL1down-regulatesFOXP3repressesR-1950121Drugs (5)

Regulator Drugs (0)

Regulon Drugs (5)

PRAMLINTIDE, OLECLUMAB, BELZUTIFAN, PRAMLINTIDE ACETATE, DAVALINTIDE

CMF-13220SLC26A8down-regulatesFOXP3repressesR-1950125Drugs (5)

Regulator Drugs (0)

Regulon Drugs (5)

PRAMLINTIDE, OLECLUMAB, BELZUTIFAN, PRAMLINTIDE ACETATE, DAVALINTIDE

CMF-16962TIE1down-regulatesFOXP3repressesR-1950122Drugs (5)

Regulator Drugs (0)

Regulon Drugs (5)

PRAMLINTIDE, OLECLUMAB, BELZUTIFAN, PRAMLINTIDE ACETATE, DAVALINTIDE

CMF-21549SORCS1up-regulatesFOXP3repressesR-1950122Drugs (5)

Regulator Drugs (0)

Regulon Drugs (5)

PRAMLINTIDE, OLECLUMAB, BELZUTIFAN, PRAMLINTIDE ACETATE, DAVALINTIDE

CMF-33464TCR_SIGNALING_IN_NAIVE_CD4+_T_CELLSdown-regulatesFOXP3repressesR-1950122Drugs (5)

Regulator Drugs (0)

Regulon Drugs (5)

PRAMLINTIDE, OLECLUMAB, BELZUTIFAN, PRAMLINTIDE ACETATE, DAVALINTIDE