1 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.
4PubMed Papers
9Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLETranscription Factor
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
chromatinDNA-binding transcription factor activity, RNA polymerase II-specificcell differentiationnucleusIsolated anophthalmia - microphthalmiaMicrophthalmia - ankyloblepharon - intellectual disabilitynanophthalmiaisolated microphthalmia 7
Based on limited published evidence, FOXD4L5 is a forkhead box transcription factor that functions as a DNA-binding protein with RNA polymerase II-specific activity. Database annotations indicate it regulates transcription and participates in anatomical structure morphogenesis and cell differentiation through chr9-associated mechanisms in the nucleus. FOXD4L5 mutations have been identified in familial lung cancer samples from Chinese populations, with specific mutations showing higher frequencies in familial and sporadic lung cancer tissues compared to healthy controls 1, suggesting potential involvement in lung cancer genetic susceptibility.
1
FOXD4L5 mutations show higher frequencies in familial and lung cancer tissues compared to healthy population, indicating potential association with lung cancer genetic predisposition
PMID: 29054765β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
Isolated anophthalmia - microphthalmiaOpen Targets
Microphthalmia - ankyloblepharon - intellectual disabilityOpen Targets
nanophthalmiaOpen Targets
isolated microphthalmia 7Open Targets
microphthalmiaOpen Targets
nanophthalmos 2Open Targets
gastric cancerOpen Targets
No pathogenic variants reported on ClinVar for this gene.