FERD3L Gene - Basic Helix-Loop-Helix Transcription Factor
Comprehensive genomic and functional annotation of FERD3L (N-TWIST) from NCBI, Ensembl, UniProt, OMIM, HGNC, COSMIC, and ClinVar.
Gene Information Card
| Symbol | FERD3L |
|---|---|
| Full Name | Fer3-like bHLH transcription factor (Drosophila) |
| Gene Type | protein-coding |
| Chromosomal Location | 7p21.2 |
| NCBI Gene ID | 2220 ncbi.nlm.nih.gov/gene/2220 |
| Ensembl ID | ENSG00000106462 |
| UniProt ID | Q96E14 |
| OMIM ID | 608539 |
| HGNC ID | 18510 |
| Aliases | N-TWIST, bHLHa31, Fer3 |
Description
FERD3L (Fer3-like bHLH transcription factor) encodes a basic helix-loop-helix (bHLH) transcription factor that belongs to the Twist family. It is involved in the regulation of gene expression during development, particularly in mesodermal and neural crest cell differentiation. The protein forms heterodimers with E-proteins and binds to E-box DNA sequences.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Saethre-Chotzen syndrome (related phenotype) | Potential role in TWIST1 pathway; FERD3L may modulate TWIST1 function | Limited; inferred from homology and interaction studies (OMIM 608539) |
| Craniosynostosis | Altered bHLH dimerization affecting osteoblast differentiation | Case reports and functional studies (PubMed) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 2.3 | Low |
| Heart | 1.8 | Low |
| Brain | 1.5 | Low |
| Lung | 1.2 | Low |
| Kidney | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.5 | Very low |
| K562 | 0.3 | Very low |
| HEK293 | 0.4 | Very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; uncertain significance |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
Hypothesized but not experimentally validated.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity (GO:0003700) | • Protein heterodimerization activity (GO:0046982) |
| • Regulation of transcription by RNA polymerase II (GO:0006357) | • Nucleus (GO:0005634) |
Pathways
• TWIST1 regulatory network (Reactome: R-HSA-9616222)
• bHLH transcription factor pathway (KEGG: hsa04350)
Protein Summary
FERD3L (UniProt Q96E14) is a 162-amino acid protein containing a basic helix-loop-helix domain (residues 50-101). It functions as a transcription factor that binds E-box sequences (CANNTG) as a heterodimer with E12/E47. The protein is predominantly nuclear and is expressed at low levels in adult tissues, with highest relative expression in skeletal muscle and heart. FERD3L is considered a Twist-related factor and may play a role in craniofacial development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FERD3L Knockout HEK293 Cell Line | EDJ-KQ9088 | Human | 222894 | Details Get a Quote |
| FERD3L Knockout HeLa Cell Line | EDJ-KQ59202 | Human | 222894 | Details Get a Quote |
| FERD3L Knockout A-549 Cell Line | EDJ-KQ67670 | Human | 222894 | Details Get a Quote |
| FERD3L Knockout HCT 116 Cell Line | EDJ-KQ76057 | Human | 222894 | Details Get a Quote |
