BDNF Gene: Brain-Derived Neurotrophic Factor
A key regulator of neuronal survival, synaptic plasticity, and cognitive function, with implications in neuropsychiatric and neurodegenerative disorders.
Gene Information Card
| Symbol | BDNF |
|---|---|
| Full Name | Brain-Derived Neurotrophic Factor |
| Gene Type | Protein coding |
| Chromosomal Location | 11p14.1 |
| NCBI Gene ID | 627 ncbi.nlm.nih.gov/gene/627 |
| Ensembl ID | ENSG00000176697 |
| UniProt ID | P23560 |
| OMIM ID | 113505 |
| HGNC ID | 1033 |
| Aliases | ANON2; BULN2 |
Description
The BDNF gene encodes brain-derived neurotrophic factor, a member of the neurotrophin family of growth factors. It is widely expressed in the central nervous system and plays a critical role in neuronal survival, differentiation, synaptic plasticity, and neurogenesis. BDNF binds to the tropomyosin receptor kinase B (TrkB) and the p75 neurotrophin receptor, activating downstream signaling cascades that promote neuronal health and cognitive function. Dysregulation of BDNF is implicated in various neurological and psychiatric disorders, including depression, Alzheimer's disease, and schizophrenia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Depression | Reduced BDNF levels and impaired TrkB signaling contribute to neuronal atrophy in limbic regions; the Val66Met polymorphism affects activity-dependent secretion and is associated with increased susceptibility. | Multiple studies, including meta-analyses (e.g., Verhagen et al., 2010) and GWAS (e.g., CONVERGE consortium, 2015). |
| Alzheimer's Disease | BDNF expression is decreased in the hippocampus and cortex; BDNF protects against amyloid-beta toxicity and supports synaptic integrity. | Post-mortem studies (e.g., Connor et al., 1997) and animal models (e.g., Nagahara et al., 2009). |
| Schizophrenia | Altered BDNF levels in serum and brain; the Val66Met polymorphism is associated with cognitive deficits and altered hippocampal volume. | Meta-analyses (e.g., Jindal et al., 2010) and imaging genetics studies (e.g., Egan et al., 2003). |
| Bipolar Disorder | BDNF levels are reduced during manic and depressive episodes; the Val66Met polymorphism may influence disease course and treatment response. | Clinical studies (e.g., Fernandes et al., 2011) and genetic association studies. |
| Huntington's Disease | Loss of BDNF production in the striatum due to mutant huntingtin disrupts cortical-striatal connectivity, contributing to neurodegeneration. | Studies in mouse models (e.g., Zuccato et al., 2001) and human post-mortem tissue. |
| Obesity | BDNF regulates appetite and energy balance via hypothalamic pathways; rare loss-of-function mutations are associated with severe obesity. | Genetic studies (e.g., Gray et al., 2006) and GWAS (e.g., Thorleifsson et al., 2009). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in cerebral cortex, hippocampus, and amygdala. |
| Adrenal Gland | Low | Moderate expression in adrenal medulla. |
| Lung | Low | Low expression in lung tissue. |
| Placenta | Low | Low expression in placenta. |
| Prostate | Low | Low expression in prostate. |
| Testis | Low | Low expression in testis. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | High | Neuronal-like cells; commonly used for BDNF studies. |
| U87 (glioblastoma) | Medium | Astrocytic cells; BDNF expression present. |
| HepG2 (liver) | Low | Low expression; not a primary source. |
| A549 (lung) | Low | Low expression; minimal relevance. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Val66Met (rs6265) | SNP (missense) | ~20-30% in Caucasian populations | Impairs activity-dependent BDNF secretion; associated with memory deficits and increased risk for neuropsychiatric disorders. |
| C270T (rs2030324) | SNP (5' UTR) | ~10-15% in some populations | May affect BDNF expression; associated with Alzheimer's disease risk in some studies. |
| R125H | Missense | Rare | Loss-of-function; associated with hyperphagia and severe obesity. |
| R125L | Missense | Rare | Loss-of-function; associated with hyperphagia and severe obesity. |
| A88V | Missense | Rare | Impaired secretion; associated with obesity and cognitive impairment. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., R125H, R125L) impair BDNF secretion or receptor binding, leading to reduced neurotrophic support, contributing to obesity and neurodevelopmental deficits.
Gain of Function (GOF)
No clear gain-of-function mutations have been reported for BDNF; most pathogenic variants are loss-of-function or hypomorphic.
Dominant Negative (DN)
The Val66Met polymorphism is not dominant-negative but reduces activity-dependent secretion, acting in a dominant manner to lower BDNF availability.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008083 - growth factor activity | • GO:0005102 - signaling receptor binding |
| • GO:0005515 - protein binding | • GO:0007399 - nervous system development |
| • GO:0043524 - negative regulation of neuron apoptotic process | • GO:0061564 - axon development |
| • GO:0007611 - learning or memory | • GO:0007626 - locomotory behavior |
| • GO:0007165 - signal transduction | • GO:0043066 - negative regulation of apoptotic process |
Pathways
• MAPK/ERK signaling pathway
• PI3K-Akt signaling pathway
• Neurotrophin signaling pathway
• Long-term potentiation
• Synaptic vesicle cycle
Protein Summary
The BDNF protein is a secreted growth factor that exists as a homodimer. It is synthesized as a precursor (proBDNF) and cleaved to form mature BDNF. Mature BDNF binds with high affinity to the TrkB receptor, activating downstream signaling cascades (e.g., PI3K/Akt, MAPK/ERK, PLCγ) that promote neuronal survival, differentiation, and synaptic plasticity. ProBDNF binds to p75NTR and sortilin, mediating apoptosis and long-term depression. The protein is critical for hippocampal-dependent memory and mood regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BDNF Knockout HEK293 Cell Line | EDJ-KQ612 | Human | 627 | Details Get a Quote |
| BDNF Knockout A-549 Cell Line | EDJ-KQ19073 | Human | 627 | Details Get a Quote |
| BDNF Knockout HCT 116 Cell Line | EDJ-KQ19074 | Human | 627 | Details Get a Quote |
| BDNF Knockout HeLa Cell Line | EDJ-KQ19075 | Human | 627 | Details Get a Quote |
| Bdnf Knockout NIH 3T3 Cell Line | EDJ-KZ119 | Mouse | 12064 | Details Get a Quote |
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