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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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FOXD2
forkhead box D2
Chromosome 1 · 1p33
NCBI Gene: 2306Ensembl: ENSG00000186564.6HGNC: HGNC:3803UniProt: O60548
20PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificpositive regulation of transcription by RNA polymerase IIprotein bindingneurodegenerative diseaseAbnormality of refractionjoint diseasehypertension
✦AI Summary

FOXD2 is a forkhead box transcription factor located on chromosome 1 that functions as a DNA-binding transcription activator involved in embryogenesis and somatogenesis 1. As a class 1 FOX protein, FOXD2 contains a conserved forkhead domain and regulates transcription through RNA polymerase II-mediated mechanisms. The FOXD2 locus resides within a FOX gene cluster alongside FOXE3 1. Clinically, FOXD2 relevance primarily emerges through its adjacent long non-coding RNA, FOXD2-AS1, which is aberrantly upregulated across multiple malignancies including gastric, lung, bladder, colorectal, nasopharyngeal, esophageal, hepatocellular, thyroid, and skin cancers 2. High FOXD2-AS1 expression correlates with poor overall survival (HR=1.51) and disease-free survival (HR=1.66) 3, larger tumor size, and advanced TNM staging 4. FOXD2-AS1 promotes cancer progression through multiple mechanisms including P53 inhibition in glioma 5, TWIST1-mediated hepatocellular carcinoma progression 6, and miR-31/PAX9 axis regulation in retinoblastoma 7. Additionally, FOXD2-AS1 modulates oncogenic pathways including PI3K/AKT, Wnt/β-catenin, and NF-κB signaling, enhancing stemness and chemoresistance 8. FOXD2-AS1 represents a potential biomarker and therapeutic target in human cancers.

Sources cited
1
FOXD2 is a member of the FOX gene family with a forkhead domain; FOXE3-FOXD2 form a gene cluster on 1p33
PMID: 15492844
2
FOXD2-AS1 is upregulated in gastric, lung, bladder, colorectal, nasopharyngeal, esophageal, hepatocellular, thyroid and skin cancers; relates to survival and prognosis
PMID: 30723052
3
High FOXD2-AS1 expression associates with poor overall survival (HR=1.51) and disease-free survival (HR=1.66); serves as prognostic biomarker
PMID: 34303519
4
FOXD2-AS1 expression correlates with larger tumor size and advanced TNM stage; is risk factor for poor OS and DFS
PMID: 33140822
5
FOXD2-AS1 affects PI3K/AKT, Hippo/YAP, Notch, Wnt/β-catenin, and NF-κB pathways; enhances stem cell properties and EMT; confers chemoresistance
PMID: 38211387
6
FOXD2-AS1 upregulated in glioma; inhibits P53 through EZH2 binding to promote glioma proliferation
PMID: 32373975
7
FOXD2-AS1 upregulated in hepatocellular carcinoma; facilitates progression by upregulating TWIST1
PMID: 37259735
8
FOXD2-AS1 promotes retinoblastoma cell viability and migration via miR-31/PAX9 axis regulation
PMID: 35782084
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.30Weak
Abnormality of refractionOpen Targets
0.27Weak
joint diseaseOpen Targets
0.22Weak
hypertensionOpen Targets
0.21Weak
neuroendocrine neoplasmOpen Targets
0.21Weak
Abnormality of the gastrointestinal tractOpen Targets
0.17Weak
Disorder of lipid metabolismOpen Targets
0.14Weak
malignant renal pelvis neoplasmOpen Targets
0.13Weak
androgenetic alopeciaOpen Targets
0.12Weak
albuminuriaOpen Targets
0.12Weak
gliomaOpen Targets
0.11Weak
colorectal carcinomaOpen Targets
0.11Weak
oral squamous cell carcinomaOpen Targets
0.10Weak
bronchopneumoniaOpen Targets
0.10Weak
Lung AbscessOpen Targets
0.10Weak
response to xenobiotic stimulusOpen Targets
0.10Weak
disease of peritoneumOpen Targets
0.10Weak
breast cancerOpen Targets
0.10Suggestive
osteosarcomaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.10Suggestive
Pathogenic Variants2
NM_004474.4(FOXD2):c.789dup (p.Gly264fs)Pathogenic
FOXD2-associated disorder
★☆☆☆2023→ Residue 264
NM_004474.4(FOXD2):c.628A>G (p.Met210Val)Likely pathogenic
See cases
☆☆☆☆2023→ Residue 210
View on ClinVar ↗
Related Genes
FOXD4Shared pathway100%FOXL3Shared pathway100%FOXD4L5Shared pathway100%FOXD4L6Shared pathway100%FOXB2Shared pathway100%FOXI2Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Lung
60%
Brain
21%
Ovary
17%
Bone Marrow
14%
Heart
4%
Gene Interaction Network
Click a node to explore
FOXD2FOXD4FOXL3FOXD4L5FOXD4L6FOXB2FOXI2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O60548
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.96LoF Tolerant
pLIⓘ
0.01Tolerant
Observed/Expected LoF2.13 [0.77–1.96]
RankingsWhere FOXD2 stands among ~20K protein-coding genes
  • #14,156of 20,598
    Most Researched20
  • #4,555of 5,498
    Most Pathogenic Variants2
  • #17,708of 17,882
    Most Constrained (LOEUF)1.96
Genes detectedFOXD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human FOX gene family (Review).
PMID: 15492844
Int J Oncol · 2004
1.00
2
Oncogenicity of lncRNA FOXD2-AS1 and its molecular mechanisms in human cancers.
PMID: 30723052
Pathol Res Pract · 2019
0.90
3
A review on the role of FOXD2-AS1 in human disorders.
PMID: 38211387
Pathol Res Pract · 2024
0.80
4
The role of FOXD2-AS1 in cancer: a comprehensive study based on data mining and published articles.
PMID: 33140822
Biosci Rep · 2020
0.70
5
Long Non-Coding RNA FOXD2-AS1 Serves as a Potential Prognostic Biomarker for Patients With Cancer: A Meta-Analysis and Database Testing.
PMID: 34303519
Am J Med Sci · 2021
0.60