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GeneE
1 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.
FOXD4L5
forkhead box D4 like 5
Chromosome 9 Β· 9q21.11
NCBI Gene: 653427Ensembl: ENSG00000204779.2HGNC: HGNC:18522UniProt: Q5VV16
4PubMed Papers
9Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chromatinDNA-binding transcription factor activity, RNA polymerase II-specificcell differentiationnucleusIsolated anophthalmia - microphthalmiaMicrophthalmia - ankyloblepharon - intellectual disabilitynanophthalmiaisolated microphthalmia 7
✦AI Summary

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.

Sources cited
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: 29054765
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜9
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
gastric cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
cancerOpen 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%
Liver
18%
Ovary
18%
Lung
13%
Bone Marrow
4%
Heart
0%
Gene Interaction Network
Click a node to explore
FOXD4L5FOXD4FOXD2FOXQ1FOXD4L1FOXD4L3FOXD4L4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q5VV16
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
0.95Intolerant
Observed/Expected LoF0.00 [0.00–0.41]
RankingsWhere FOXD4L5 stands among ~20K protein-coding genes
  • #18,565of 20,598
    Most Researched4
  • #2,098of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedFOXD4L5
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Characterization of germline mutations in familial lung cancer from the Chinese population.
PMID: 29054765
Gene Β· 2018
1.00