NTF3 Gene - Neurotrophin 3
Key regulator of neuronal survival, differentiation, and synaptic plasticity
Gene Information Card
| Symbol | NTF3 |
|---|---|
| Full Name | Neurotrophin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 4908 ncbi.nlm.nih.gov/gene/4908 |
| Ensembl ID | ENSG00000185652 |
| UniProt ID | P20783 |
| OMIM ID | 162660 |
| HGNC ID | 8023 |
| Aliases | NT-3, NTF3, HDNF, NGF-2, neurotrophin-3 |
Description
The NTF3 gene encodes neurotrophin 3 (NT-3), a member of the neurotrophin family that regulates survival, differentiation, and maintenance of neurons. NT-3 binds to TrkC (NTRK3) and p75NTR receptors, activating signaling pathways critical for nervous system development and plasticity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hirschsprung disease | Loss-of-function variants impair enteric neuron development | PMID: 10835629, ClinVar |
| Congenital central hypoventilation syndrome | Disrupted neurotrophic signaling in autonomic neurons | PMID: 12668620 |
| Schizophrenia | Altered NT-3 levels affect synaptic plasticity | PMID: 11566898 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Heart | 4.2 | Medium |
| Skeletal Muscle | 3.8 | Medium |
| Lung | 1.1 | Low |
| Liver | 0.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 8.9 | Neuroblastoma cell line |
| U-87 MG | 2.1 | Glioblastoma cell line |
| HEK293 | 0.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Loss of start codon, reduced protein |
| c.208C>T (p.Arg70Cys) | missense | <0.01% | Impaired receptor binding |
| c.382G>A (p.Gly128Ser) | missense | <0.01% | Unknown significance |
Mutation functional classification
Loss of Function (LOF)
Hirschsprung disease-associated variants reduce NT-3 activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
Pathways
• Neurotrophin signaling pathway (KEGG: hsa04722)
• MAPK signaling pathway (Reactome: R-HSA-198725)
• PI3K-Akt signaling pathway (Reactome: R-HSA-9006925)
Protein Summary
Neurotrophin 3 (NT-3) is a 119-amino acid secreted protein that forms homodimers. It binds with high affinity to TrkC receptor and with low affinity to p75NTR. NT-3 promotes survival of sensory and sympathetic neurons, and is essential for proprioceptive neuron development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NTF3 Knockout HEK293 Cell Line | EDJ-KQ212 | Human | 4908 | Details Get a Quote |
| NTF3 Knockout HeLa Cell Line | EDJ-KQ54027 | Human | 4908 | Details Get a Quote |
| NTF3 Knockout A-549 Cell Line | EDJ-KQ62516 | Human | 4908 | Details Get a Quote |
| NTF3 Knockout HCT 116 Cell Line | EDJ-KQ70988 | Human | 4908 | Details Get a Quote |
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