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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FOXD4
forkhead box D4
Chromosome 9 · 9p24.3
NCBI Gene: 2298Ensembl: ENSG00000170122.6HGNC: HGNC:3805UniProt: Q12950
24PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingnucleusuterine fibroidaseptic looseningrevision of total knee arthroplastyIsolated anophthalmia - microphthalmia
✦AI Summary

FOXD4 is a forkhead box transcription factor that functions as a sequence-specific DNA-binding transcription factor regulating RNA polymerase II-dependent gene expression 1. The human genome contains seven FOXD4-related genes (FOXD4 and FOXD4L1-L6) generated through recent gene duplication, unlike the single mouse ortholog 2. FOXD4 contains functionally distinct domains: an N-terminal acidic blob region mediating transcriptional activation and a C-terminal Eh-1 motif enabling Groucho co-repressor interaction for transcriptional repression 3. During embryonic neural development, FOXD4 maintains proliferative neural ectodermal precursors while suppressing genes promoting neural differentiation, regulating the critical transition from immature to differentiating neural tissue 4. Pathologically, FOXD4 mutations have been associated with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality, with a W148R mutation disrupting conserved DNA-binding capacity 5. In colorectal adenocarcinoma, elevated FOXD4 expression correlates with poor prognosis and serves as a diagnostic biomarker (AUC=0.728) 6. Additionally, structural variants impacting FOXD4 have been identified as candidate contributors to neural tube defects 7. These findings establish FOXD4 as a developmentally critical transcriptional regulator with pathogenic potential in congenital and malignant diseases.

Sources cited
1
FOXD4 is a member of the human FOX gene family functioning as a transcription factor; deregulation of FOX genes leads to congenital disorders and carcinogenesis
PMID: 15492844
2
Human genome contains seven FOXD4-related genes generated through recent duplication, unlike the single mouse Foxd4 ortholog; FOX proteins are transcription factors with conserved forkhead DNA-binding domain
PMID: 20650821
3
FoxD4/5 has an N-terminal Acidic blob activation domain and C-terminal Eh-1 motif for Groucho-mediated repression; regulates neural ectoderm maintenance and neural differentiation genes
PMID: 22425621
4
FoxD4L1/FoxD4 maintains immature neural ectodermal precursors and delays neural progenitor differentiation through activation and repression of distinct gene networks
PMID: 23862097
5
W148R mutation in FOXD4 disrupts conserved tryptophan in forkhead domain and segregates with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality
PMID: 17273782
6
FOXD4 overexpression in colorectal adenocarcinoma is associated with poor prognosis and serves as a diagnostic biomarker (AUC=0.728)
PMID: 33165349
7
Structural variants impacting FOXD4 are identified as candidate genes associated with neural tube defects
PMID: 40107724
Disease Associationsⓘ20
uterine fibroidOpen Targets
0.24Weak
aseptic looseningOpen Targets
0.19Weak
revision of total knee arthroplastyOpen Targets
0.19Weak
Isolated anophthalmia - microphthalmiaOpen Targets
0.06Suggestive
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
0.05Suggestive
nanophthalmiaOpen Targets
0.04Suggestive
isolated microphthalmia 7Open Targets
0.04Suggestive
microphthalmiaOpen Targets
0.04Suggestive
nanophthalmos 2Open Targets
0.04Suggestive
Varicose veinsOpen Targets
0.03Suggestive
colorectal carcinomaOpen Targets
0.03Suggestive
diabetes mellitusOpen Targets
0.02Suggestive
B-cell acute lymphoblastic leukemiaOpen Targets
0.02Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
head and neck malignant neoplasiaOpen Targets
0.01Suggestive
Ewing sarcomaOpen Targets
0.01Suggestive
dilated cardiomyopathyOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
colon adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
FOXL3Shared pathway100%FOXD4L5Shared pathway100%FOXD4L6Shared pathway100%FOXB2Shared pathway100%FOXI2Shared pathway100%FOXD4L4Shared pathway100%
Tissue Expression6 tissues
Lung
100%
Brain
100%
Ovary
89%
Liver
89%
Bone Marrow
22%
Heart
0%
Gene Interaction Network
Click a node to explore
FOXD4FOXL3FOXD4L5FOXD4L6FOXB2FOXI2FOXD4L4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q12950
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.37LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.96 [0.69–1.37]
RankingsWhere FOXD4 stands among ~20K protein-coding genes
  • #13,191of 20,598
    Most Researched24
  • #14,316of 17,882
    Most Constrained (LOEUF)1.37
Genes detectedFOXD4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Human FOX gene family (Review).
PMID: 15492844
Int J Oncol · 2004
1.00
2
Update of human and mouse forkhead box (FOX) gene families.
PMID: 20650821
Hum Genomics · 2010
0.90
3
A W148R mutation in the human FOXD4 gene segregating with dilated cardiomyopathy, obsessive-compulsive disorder, and suicidality.
PMID: 17273782
Int J Mol Med · 2007
0.80
4
Diagnostic and prognostic values of forkhead box D4 gene in colonic adenocarcinoma.
PMID: 33165349
Int J Clin Exp Pathol · 2020
0.70
5
Gene content and function of the ancestral chromosome fusion site in human chromosome 2q13-2q14.1 and paralogous regions.
PMID: 12421752
Genome Res · 2002
0.60