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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FOXD4L6
forkhead box D4 like 6
Chromosome 9 Β· 9p11.2
NCBI Gene: 653404Ensembl: ENSG00000273514.2HGNC: HGNC:31986UniProt: Q3SYB3
13PubMed Papers
12Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingDNA-binding transcription factor activity, RNA polymerase II-specificRNA polymerase II cis-regulatory region sequence-specific DNA bindingcell differentiationAlzheimer diseasebasal cell carcinomaIsolated anophthalmia - microphthalmiaskin cancer
✦AI Summary

Based on limited published evidence, FOXD4L6 is a forkhead box transcription factor encoded on chromosome 9 that resulted from a recent human-specific duplication of FOXD4 1. Like other FOX family members, it contains a highly conserved forkhead DNA-binding domain and functions as an RNA polymerase II-specific transcription factor involved in chr9 regulation and transcription control. FOXD4L6 is associated with cell differentiation and anatomical structure morphogenesis through its transcriptional regulatory activity. Recent evidence suggests FOXD4L6 may have clinical significance as a methylation-driven prognostic biomarker in lung squamous cell carcinoma 2, though its precise molecular functions require further investigation.

Sources cited
1
FOXD4L6 resulted from recent human-specific duplication of FOXD4; describes FOX family as transcription factors with conserved forkhead DNA-binding domain
PMID: 20650821
2
FOXD4L6 identified as methylation-driven gene associated with overall survival in lung squamous cell carcinoma patients
PMID: 32218699
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜12
Alzheimer diseaseOpen Targets
0.19Weak
basal cell carcinomaOpen Targets
0.08Suggestive
Isolated anophthalmia - microphthalmiaOpen Targets
0.06Suggestive
skin cancerOpen Targets
0.05Suggestive
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
non-melanoma skin carcinomaOpen Targets
0.04Suggestive
cancerOpen Targets
0.00Suggestive
laryngotracheoesophageal cleftOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
FOXD4Shared pathway100%FOXD2Shared pathway100%FOXQ1Shared pathway100%FOXD4L1Shared pathway100%FOXD4L3Shared pathway100%FOXD4L4Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
FOXD4L6FOXD4FOXD2FOXQ1FOXD4L1FOXD4L3FOXD4L4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q3SYB3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.43LoF Tolerant
pLIβ“˜
0.38Tolerant
Observed/Expected LoF0.32 [0.11–1.43]
RankingsWhere FOXD4L6 stands among ~20K protein-coding genes
  • #16,164of 20,598
    Most Researched13
  • #14,696of 17,882
    Most Constrained (LOEUF)1.43
Genes detectedFOXD4L6
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Update of human and mouse forkhead box (FOX) gene families.
PMID: 20650821
Hum Genomics Β· 2010
1.00
2
Integrative analysis of DNA methylation-driven genes for the prognosis of lung squamous cell carcinoma using MethylMix.
PMID: 32218699
Int J Med Sci Β· 2020
0.50