FEZF2 Gene: Fez Family Zinc Finger 2
Key transcription factor in forebrain development and neuronal specification
Gene Information Card
| Symbol | FEZF2 |
|---|---|
| Full Name | Fez family zinc finger 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p14.2 |
| NCBI Gene ID | 55079 ncbi.nlm.nih.gov/gene/55079 |
| Ensembl ID | ENSG00000153250 |
| UniProt ID | Q8TBJ5 |
| OMIM ID | 607414 |
| HGNC ID | 21388 |
| Aliases | FEZ, FEZL, ZNF312B, TOF |
Description
FEZF2 (Fez family zinc finger 2) encodes a zinc finger transcription factor essential for forebrain development, particularly the specification and differentiation of corticospinal motor neurons and subcerebral projection neurons. It acts as a master regulator of neuronal identity and axon guidance.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability | Loss-of-function mutations impair forebrain neuron specification | ClinVar |
| Autism spectrum disorder | De novo variants disrupt transcriptional regulation | ClinVar |
| Schizophrenia | Rare variants may alter neurodevelopmental pathways | NCBI Gene |
| Corticospinal tract abnormalities | FEZF2 deficiency leads to defective motor neuron projection | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral cortex | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Hippocampus | 10.1 | Medium |
| Spinal cord | 6.7 | Low |
| Testis | 2.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U-87 MG (glioblastoma) | 3.4 | Low expression |
| HEK293 (embryonic kidney) | 0.8 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Ter) | Nonsense | Rare | Loss of function |
| c.245G>A (p.Arg82Gln) | Missense | Rare | Altered DNA binding |
| c.412_413del (p.Glu138fs) | Frameshift | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated protein, impairing transcriptional activation of target genes.
Gain of Function (GOF)
Not reported in FEZF2.
Dominant Negative (DN)
Not reported in FEZF2.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • Nucleus | • Forebrain development |
| • Corticospinal tract development | • Neuron differentiation |
| • Axon guidance |
Pathways
• Forebrain development
• Corticospinal neuron specification
• Transcriptional regulation by FEZF2
Protein Summary
FEZF2 is a 458-amino acid zinc finger transcription factor localized to the nucleus. It contains six C2H2-type zinc fingers and a Fez family-specific domain. The protein binds to specific DNA sequences to regulate genes involved in neuronal subtype identity, axon guidance, and cortical lamination.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FEZF2 Knockout HEK293 Cell Line | EDJ-KQ13474 | Human | 55079 | Details Get a Quote |
| FEZF2 Knockout HeLa Cell Line | EDJ-KQ56531 | Human | 55079 | Details Get a Quote |
| FEZF2 Knockout A-549 Cell Line | EDJ-KQ65025 | Human | 55079 | Details Get a Quote |
| FEZF2 Knockout HCT 116 Cell Line | EDJ-KQ73469 | Human | 55079 | Details Get a Quote |
