FEZF1: A Key Regulator in Neuronal Development and Axon Guidance
Comprehensive genomic and functional analysis of the FEZ family zinc finger 1 gene
Gene Information Card
| Symbol | FEZF1 |
|---|---|
| Full Name | FEZ family zinc finger 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q31.32 |
| NCBI Gene ID | 9638 ncbi.nlm.nih.gov/gene/9638 |
| Ensembl ID | ENSG00000128610 |
| UniProt ID | Q9P2M4 |
| OMIM ID | 613301 |
| HGNC ID | 22786 |
| Aliases | FEZ, ZNF312B, FLJ10718 |
Description
FEZF1 (FEZ family zinc finger 1) is a protein-coding gene that encodes a zinc finger transcription factor. It plays a critical role in neuronal development, particularly in the formation of the olfactory system and the guidance of gonadotropin-releasing hormone (GnRH) neurons. FEZF1 is essential for proper axon pathfinding and neuronal migration. Mutations in this gene are associated with Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Kallmann syndrome 8 (KAL8) | Loss-of-function mutations in FEZF1 disrupt the development and migration of GnRH neurons, leading to anosmia and hypogonadotropic hypogonadism. | ClinVar, OMIM |
| Normosmic idiopathic hypogonadotropic hypogonadism (nIHH) | Mutations impair GnRH neuron function without affecting olfactory bulb development, resulting in isolated hypogonadism. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.0 | Not detected |
| Olfactory bulb | 0.0 | Not detected (low expression in specific cell types) |
| Testis | 0.0 | Not detected |
| Fetal brain | 0.0 | Not detected (developmental stage-specific) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.0 | Low or absent in standard RNA-seq |
| HEK293 (embryonic kidney) | 0.0 | Not expressed |
| H9 (embryonic stem cells) | 0.0 | Not expressed in undifferentiated cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113*) | Nonsense | Rare | Loss of function; truncates protein, associated with Kallmann syndrome |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; abolishes translation initiation |
| c.424C>T (p.Arg142Trp) | Missense | Rare | Likely loss of function; disrupts zinc finger domain |
Mutation functional classification
Loss of Function (LOF)
Most reported FEZF1 mutations are loss-of-function, leading to haploinsufficiency or complete loss of protein activity, impairing GnRH neuron migration.
Gain of Function (GOF)
No gain-of-function mutations have been reported for FEZF1.
Dominant Negative (DN)
No dominant-negative mutations have been described for FEZF1.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • zinc ion binding | • nucleus |
| • regulation of transcription by RNA polymerase II | • neuron migration |
| • axon guidance | • olfactory bulb development |
Pathways
• GnRH neuron development and migration
• Olfactory system development
Protein Summary
FEZF1 is a zinc finger transcription factor of 479 amino acids. It contains a C2H2-type zinc finger domain that mediates sequence-specific DNA binding. The protein is predominantly nuclear and regulates genes involved in neuronal migration and axon guidance. FEZF1 is expressed transiently during embryonic development in the olfactory placode and ventral forebrain, where it directs the migration of GnRH neurons from the olfactory epithelium to the hypothalamus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| FEZF1 Knockout HEK293 Cell Line | EDJ-KQ12722 | Human | 389549 | Details Get a Quote |
| FEZF1 Knockout HeLa Cell Line | EDJ-KQ60090 | Human | 389549 | Details Get a Quote |
| FEZF1 Knockout A-549 Cell Line | EDJ-KQ68553 | Human | 389549 | Details Get a Quote |
| FEZF1 Knockout HCT 116 Cell Line | EDJ-KQ76928 | Human | 389549 | Details Get a Quote |
