GDNF (Glial Cell Derived Neurotrophic Factor)
A key neurotrophic factor for dopaminergic neuron survival and kidney development
Gene Information Card
| Symbol | GDNF |
|---|---|
| Full Name | Glial Cell Derived Neurotrophic Factor |
| Gene Type | protein-coding |
| Chromosomal Location | 5p13.2 |
| NCBI Gene ID | 2668 ncbi.nlm.nih.gov/gene/2668 |
| Ensembl ID | ENSG00000168621 |
| UniProt ID | P39905 |
| OMIM ID | 600837 |
| HGNC ID | 4232 |
| Aliases | ATF, ATF1, HGDNF, HSCR3 |
Description
GDNF (Glial Cell Derived Neurotrophic Factor) encodes a secreted neurotrophic factor that promotes the survival and differentiation of dopaminergic neurons, motor neurons, and sensory neurons. It is critical for kidney development and enteric nervous system formation. GDNF signals through the RET receptor tyrosine kinase and the GFRα1 co-receptor. Mutations in GDNF are associated with Hirschsprung disease and have been implicated in Parkinson's disease susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hirschsprung disease | Loss-of-function mutations impair RET signaling, leading to aganglionosis of the colon | ClinVar, OMIM |
| Parkinson's disease | Reduced GDNF expression or signaling may contribute to dopaminergic neuron degeneration | NCBI Gene, OMIM |
| Congenital central hypoventilation syndrome | Rare variants in GDNF may disrupt neural crest cell migration | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Kidney | 2.1 | Medium |
| Testis | 0.3 | Low |
| Stomach | 1.5 | Medium |
| Small intestine | 1.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 0.5 | Neuroblastoma cell line |
| HEK 293 | 0.2 | Embryonic kidney cell line |
| U-87 MG | 0.1 | Glioblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense | Rare | Loss of start codon, reduced protein expression |
| c.205C>T (p.Arg69Trp) | Missense | <0.01% | Impaired receptor binding |
| c.359G>A (p.Arg120Gln) | Missense | <0.01% | Reduced neurotrophic activity |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg69Trp) reduce GDNF binding to GFRα1/RET, impairing signaling.
Gain of Function (GOF)
Not reported in GDNF.
Dominant Negative (DN)
Not reported in GDNF.
View complete mutation data：
Gene Ontology (GO)
| • neurotrophin TRK receptor signaling pathway | • positive regulation of neuron projection development |
| • extracellular space | • growth factor activity |
| • protein binding |
Pathways
• RET signaling
• GDNF-GFRα1 complex signaling
• MAPK signaling cascade
Protein Summary
GDNF is a 211-amino acid secreted protein (UniProt P39905) that forms homodimers. It binds to the GFRα1 receptor and activates RET tyrosine kinase, promoting cell survival, proliferation, and differentiation. The protein is highly conserved and expressed in the brain, kidney, and gastrointestinal tract.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GDNF Knockout HEK293 Cell Line | EDJ-KQ956 | Human | 2668 | Details Get a Quote |
| GDNF Knockout HeLa Cell Line | EDJ-KQ53327 | Human | 2668 | Details Get a Quote |
| GDNF Knockout A-549 Cell Line | EDJ-KQ61810 | Human | 2668 | Details Get a Quote |
| GDNF Knockout HCT 116 Cell Line | EDJ-KQ70296 | Human | 2668 | Details Get a Quote |
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