NDNF (Neuron-Derived Neurotrophic Factor): A Key Regulator of Neuronal Survival and Synaptic Plasticity
Comprehensive gene card for NDNF, including genomic context, expression profiles, associated diseases, and functional annotations.
Gene Information Card
| Symbol | NDNF |
|---|---|
| Full Name | Neuron-Derived Neurotrophic Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 4q27 |
| NCBI Gene ID | 79625 ncbi.nlm.nih.gov/gene/79625 |
| Ensembl ID | ENSG00000163738 |
| UniProt ID | Q96T58 |
| OMIM ID | 614104 |
| HGNC ID | 26246 |
| Aliases | FLJ35725, MGC16169 |
Description
NDNF (Neuron-Derived Neurotrophic Factor) encodes a secreted protein that plays a critical role in the development, maintenance, and function of the nervous system. It promotes neuronal survival, axonal growth, and synaptic plasticity. NDNF is primarily expressed in the brain, particularly in the cortex and hippocampus, and is involved in the regulation of GABAergic interneuron function. Its expression is also observed in other tissues, suggesting broader physiological roles.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's Disease | Potential neuroprotective role; altered expression may contribute to neurodegeneration. | Expression studies in post-mortem brain tissue |
| Schizophrenia | Associated with interneuron dysfunction; NDNF is a marker for a specific subtype of GABAergic neurons. | Genetic association and expression studies |
| Major Depressive Disorder | Potential involvement in neuroplasticity and stress response; altered expression in animal models. | Preclinical studies and expression analysis |
| Epilepsy | Modulation of neuronal excitability; potential role in seizure susceptibility. | Animal model studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cerebral Cortex | High | High |
| Hippocampus | High | High |
| Cerebellum | Medium | Medium |
| Testis | Medium | Medium |
| Adipose Tissue | Low | Low |
| Liver | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (Neuroblastoma) | Medium | Neuronal-like cell line; used for neurobiology studies. |
| U-87 MG (Glioblastoma) | Low | Astrocytoma cell line. |
| HeLa (Cervical Cancer) | Low | Non-neuronal control. |
| HUVEC (Endothelial) | Low | Endothelial cell line. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>A (p.Tyr41Ter) | Nonsense | Rare | Predicted to result in a truncated, non-functional protein. |
| c.456G>T (p.Gln152His) | Missense | Rare | Potential impact on protein structure and function; clinical significance unknown. |
| c.789_790insA (p.Leu264ThrfsTer5) | Frameshift | Rare | Predicted to cause loss of function. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in NDNF are rare and may contribute to neurodevelopmental or psychiatric phenotypes by impairing neuronal survival and synaptic function.
Gain of Function (GOF)
No clear gain-of-function mutations have been described for NDNF.
Dominant Negative (DN)
No evidence for dominant-negative effects of NDNF mutations.
View complete mutation data：
Gene Ontology (GO)
| • neurotrophin binding | • heparin binding |
| • growth factor activity | • extracellular space |
| • positive regulation of neuron projection development | • positive regulation of synaptic transmission |
| • nervous system development |
Pathways
• Neurotrophin signaling pathway
• Axon guidance
• Synaptic plasticity
Protein Summary
The NDNF protein is a secreted neurotrophic factor that binds to heparan sulfate proteoglycans on the cell surface. It promotes neuronal survival and differentiation, and modulates synaptic transmission by regulating the function of GABAergic interneurons. The protein contains a fibronectin type III domain and is structurally related to other growth factors. Its precise mechanism of action involves activation of intracellular signaling cascades that promote cell survival and plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NDNF Knockout HEK293 Cell Line | EDJ-KQ14401 | Human | 79625 | Details Get a Quote |
| NDNF Knockout HeLa Cell Line | EDJ-KQ57194 | Human | 79625 | Details Get a Quote |
| NDNF Knockout A-549 Cell Line | EDJ-KQ65703 | Human | 79625 | Details Get a Quote |
| NDNF Knockout HCT 116 Cell Line | EDJ-KQ74125 | Human | 79625 | Details Get a Quote |
