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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FERD3L
Fer3 like bHLH transcription factor
Chromosome 7 · 7p21.1
NCBI Gene: 222894Ensembl: ENSG00000146618.3HGNC: HGNC:16660UniProt: Q96RJ6
16PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingsequence-specific double-stranded DNA bindingnucleuschromatinThromboembolismmacular degenerationinjuryaortic stenosis
✦AI Summary

FERD3L (Fer3 like bHLH transcription factor) is a basic helix-loop-helix transcription factor that functions as a transcriptional inhibitor by binding E-box sequences and sequestering E proteins, thereby antagonizing transcription activation by ASCL1/MASH1. FERD3L operates through protein-DNA interactions requiring dimerization with E proteins and localizes to the nucleus where it regulates RNA polymerase II-dependent transcription. At the mechanistic level, FERD3L expression is epigenetically regulated; KDM5D, a histone H3K4 demethylase, directly represses FERD3L transcription through promoter occupancy and reduction of H3K4me3 marks 1. FERD3L methylation patterns show clinical significance, with differential methylation observed in triple-negative breast cancer, where elevated FERD3L methylation in responder patients contributes to a two-gene epigenetic signature (FERD3L and TRIP10) predicting pathological complete response to neoadjuvant chemotherapy with 78.6% accuracy 2. Disease relevance spans multiple conditions: FERD3L expression correlates with cardiovascular stability, with lower expression associated with unstable carotid plaques and increased ischemic stroke risk 34. In male colorectal cancer, FERD3L upregulation associates with advanced disease, lymph node metastasis, and poor prognosis, with KDM5D-mediated repression of FERD3L suppressing tumor cell proliferation, migration, and invasion while promoting apoptosis 1. Genetic variants near FERD3L (rs10230207) confer increased intracranial aneurysm risk, though FERD3L expression itself remains unaffected by this variant 5. FERD3L also associates with bone metabolism processes in osteoporosis 6.

Sources cited
1
KDM5D represses FERD3L transcription through H3K4me3 demethylation; FERD3L upregulation promotes colorectal cancer progression and metastasis
PMID: 41621465
2
FERD3L methylation status predicts pathological complete response to chemotherapy in triple-negative breast cancer
PMID: 30786922
3
FERD3L gene expression associates with plaque stability and cardiovascular disease
PMID: 26621503
4
Lower FERD3L mRNA expression levels correlate with ischemic stroke risk in Malaysian population
PMID: 34384670
5
Rs10230207 genetic variant near FERD3L associates with intracranial aneurysm but does not alter FERD3L expression
PMID: 30919159
6
FERD3L intergenic region associates with bone metabolism in osteoporosis genetic studies
PMID: 28373146
Disease Associationsⓘ20
ThromboembolismOpen Targets
0.30Weak
macular degenerationOpen Targets
0.28Weak
injuryOpen Targets
0.25Weak
aortic stenosisOpen Targets
0.23Weak
Abnormality of the skeletal systemOpen Targets
0.22Weak
malnutritionOpen Targets
0.21Weak
subarachnoid hemorrhageOpen Targets
0.20Weak
mixed connective tissue diseaseOpen Targets
0.18Weak
breast diseaseOpen Targets
0.17Weak
ocular hypotensionOpen Targets
0.17Weak
arthritisOpen Targets
0.17Weak
coronary artery diseaseOpen Targets
0.17Weak
brain diseaseOpen Targets
0.17Weak
squamous cell carcinomaOpen Targets
0.17Weak
Myocardial IschemiaOpen Targets
0.16Weak
atherosclerosisOpen Targets
0.16Weak
large artery strokeOpen Targets
0.16Weak
coronary atherosclerosisOpen Targets
0.16Weak
strokeOpen Targets
0.15Weak
peripheral vascular diseaseOpen Targets
0.15Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SLC7A6OSShared pathway100%ZNF585BShared pathway100%TCF24Shared pathway100%BHLHA9Shared pathway100%ZNF674Shared pathway100%ZSCAN5BShared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Ovary
0%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
FERD3LSLC7A6OSZNF585BTCF24BHLHA9ZNF674ZSCAN5B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96RJ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.34LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.46–1.34]
RankingsWhere FERD3L stands among ~20K protein-coding genes
  • #15,262of 20,598
    Most Researched16
  • #14,040of 17,882
    Most Constrained (LOEUF)1.34
Genes detectedFERD3L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
HDAC9, TWIST1 and FERD3L gene expression in asymptomatic stable and unstable carotid plaques.
PMID: 26621503
Inflamm Res · 2016
1.00
2
Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis.
PMID: 15210113
Cell · 2004
0.90
3
SLC17A3 rs9379800 and Ischemic Stroke Susceptibility at the Northern Region of Malaysia.
PMID: 34384670
J Stroke Cerebrovasc Dis · 2021
0.80
4
A two-gene epigenetic signature for the prediction of response to neoadjuvant chemotherapy in triple-negative breast cancer patients.
PMID: 30786922
Clin Epigenetics · 2019
0.70
5
Rs10230207 genotype confers changes in HDAC9 and TWIST1, but not FERD3L in lymphoblasts from patients with intracranial aneurysm.
PMID: 30919159
Neurogenetics · 2019
0.60