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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FOXR1
forkhead box R1
Chromosome 11 · 11q23.3
NCBI Gene: 283150Ensembl: ENSG00000176302.13HGNC: HGNC:29980UniProt: B0YJ16
21PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of transcription by RNA polymerase IInucleusprotein bindingDNA-binding transcription activator activity, RNA polymerase II-specificmicrocephalyhepatocellular carcinomaurinary bladder carcinomalung adenocarcinoma
✦AI Summary

FOXR1 (forkhead box R1) is a transcription factor that functions as both a transcriptional activator and repressor, playing critical roles in cellular stress response and brain development 1. The protein directly regulates stress response genes including heat shock chaperones HSPA1A and HSPA6, and the antioxidant enzyme DHRS2, with its expression increasing during cellular stress 1. FOXR1 is essential for normal embryonic development, as Foxr1 knockout mice exhibit severe survival deficits, reduced body weight, decreased cortical thickness, and enlarged ventricles 1. The gene demonstrates embryonic lethality with partial penetrance while being dispensable for male fertility in surviving adults 2. In pathological contexts, FOXR1 exhibits oncogenic properties when aberrantly expressed through chr11 rearrangements. Intrachromosomal deletions in neuroblastoma create fusion genes such as MLL-FOXR1 and PAFAH1B2-FOXR1, leading to oncogenic activation 3. These fusion proteins can functionally replace MYC in driving cell proliferation and act as negative regulators of forkhead factor-mediated transcription 3. Additional FOXR1 fusions have been identified in various tumor types including ossifying fibromyxoid tumors (PHF1::FOXR1) and composite hemangioendothelioma (YAP1::FOXR1), often associated with aggressive behavior 45.

Sources cited
1
FOXR1 functions as transcriptional activator/repressor, regulates stress response genes HSPA1A, HSPA6, DHRS2, and is required for brain development
PMID: 34723967
2
Foxr1 knockout mice show embryonic lethality with partial penetrance but normal male fertility in survivors
PMID: 41287519
3
FOXR1 fusion genes in neuroblastoma (MLL-FOXR1, PAFAH1B2-FOXR1) exhibit oncogenic properties and can replace MYC function
PMID: 21860421
4
PHF1::FOXR1 fusion identified in malignant ossifying fibromyxoid tumors with aggressive behavior
PMID: 36648026
5
YAP1::FOXR1 fusion discovered in composite hemangioendothelioma
PMID: 37658696
Disease Associationsⓘ20
microcephalyOpen Targets
0.19Weak
hepatocellular carcinomaOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
urinary bladder carcinomaOpen Targets
0.19Weak
Global developmental delayOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
Brain atrophyOpen Targets
0.19Weak
bile duct adenocarcinomaOpen Targets
0.18Weak
breast carcinomaOpen Targets
0.18Weak
breast ductal adenocarcinomaOpen Targets
0.18Weak
clear cell renal carcinomaOpen Targets
0.18Weak
cutaneous melanomaOpen Targets
0.18Weak
Duodenal AdenocarcinomaOpen Targets
0.18Weak
female breast carcinomaOpen Targets
0.18Weak
gastric carcinomaOpen Targets
0.18Weak
lymphoid neoplasmOpen Targets
0.18Weak
multiple myelomaOpen Targets
0.18Weak
pancreatic ductal adenocarcinomaOpen Targets
0.18Weak
papillary thyroid carcinomaOpen Targets
0.18Weak
skin squamous cell carcinomaOpen Targets
0.18Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOXG1Shared pathway100%VCYShared pathway100%PHGDHShared pathway100%VCX2Shared pathway100%VCX3AShared pathway100%CA10Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
20%
Ovary
20%
Lung
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
FOXR1FOXG1VCYPHGDHVCX2VCX3ACA10
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6PIV2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.98LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.51–0.98]
RankingsWhere FOXR1 stands among ~20K protein-coding genes
  • #13,909of 20,598
    Most Researched21
  • #9,416of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedFOXR1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human FOX gene family (Review).
PMID: 15492844
Int J Oncol · 2004
1.00
2
Expanding the molecular signatures of malignant ossifying fibromyxoid tumours with two novel gene fusions: PHF1::FOXR1 and PHF1::FOXR2.
PMID: 36648026
Histopathology · 2023
0.90
3
FOXR1 regulates stress response pathways and is necessary for proper brain development.
PMID: 34723967
PLoS Genet · 2021
0.80
4
Identification and characterization of human FOXK1 gene in silico.
PMID: 15202027
Int J Mol Med · 2004
0.70
5
Oncogenic activation of FOXR1 by 11q23 intrachromosomal deletion-fusions in neuroblastoma.
PMID: 21860421
Oncogene · 2012
0.60