2 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
13PubMed Papers
12Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITYβ Experimental GO Evidenceβ 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
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.
1
FOXD4L6 resulted from recent human-specific duplication of FOXD4; describes FOX family as transcription factors with conserved forkhead DNA-binding domain
PMID: 206508212
FOXD4L6 identified as methylation-driven gene associated with overall survival in lung squamous cell carcinoma patients
PMID: 32218699β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
Alzheimer diseaseOpen Targets
basal cell carcinomaOpen Targets
Isolated anophthalmia - microphthalmiaOpen Targets
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
nanophthalmiaOpen Targets
isolated microphthalmia 7Open Targets
microphthalmiaOpen Targets
nanophthalmos 2Open Targets
non-melanoma skin carcinomaOpen Targets
laryngotracheoesophageal cleftOpen Targets
No pathogenic variants reported on ClinVar for this gene.