NRTN (Neurturin)
A neurotrophic factor gene involved in neuronal development and survival, with implications in Hirschsprung disease and other disorders.
Gene Information Card
| Symbol | NRTN |
|---|---|
| Full Name | Neurturin |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 4902 ncbi.nlm.nih.gov/gene/4902 |
| Ensembl ID | ENSG00000171119 |
| UniProt ID | Q99748 |
| OMIM ID | 602018 |
| HGNC ID | 8008 |
| Aliases | NTN |
Description
NRTN (neurturin) is a member of the glial cell line-derived neurotrophic factor (GDNF) family of ligands. It signals through the RET receptor tyrosine kinase in complex with GFRα2, promoting survival, maintenance, and differentiation of neurons, particularly dopaminergic and enteric neurons. NRTN is critical for development of the enteric nervous system and has been implicated in Hirschsprung disease and other neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hirschsprung disease | Loss-of-function variants in NRTN impair RET/GFRα2 signaling, leading to failure of enteric neuron migration during development. | ClinVar, OMIM |
| Congenital central hypoventilation syndrome | Rare NRTN variants may contribute to autonomic nervous system dysfunction, though evidence is limited. | OMIM, PubMed |
| Parkinson disease | NRTN has been investigated as a therapeutic target due to its neurotrophic effects on dopaminergic neurons; no direct disease-causing mutations established. | UniProt, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Small intestine | 3.2 | Medium |
| Colon | 2.5 | Medium |
| Stomach | 1.9 | Low |
| Kidney | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 1.2 | Neuroblastoma cell line |
| HEK293 | 0.3 | Low expression |
| Caco-2 | 2.1 | Colorectal adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.3G>A (p.Met1?) | Missense/Start loss | <0.01% | Likely loss of function; associated with Hirschsprung disease |
| c.316C>T (p.Arg106Cys) | Missense | <0.01% | Reduced receptor binding; reported in Hirschsprung disease |
| c.422G>A (p.Arg141His) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, and start-loss variants that reduce or abolish neurturin protein production or receptor binding.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• RET signaling (Reactome: R-HSA-8853659)
• GDNF family ligand-receptor interaction (KEGG: hsa04370)
Protein Summary
Neurturin is a secreted neurotrophic factor of the GDNF family. It forms a homodimer that binds to the GFRα2 co-receptor, which then activates the RET tyrosine kinase receptor. This signaling cascade promotes survival and differentiation of neurons, especially in the enteric and dopaminergic systems. The mature protein is 100 amino acids long and contains a conserved cysteine knot domain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRTN Knockout HEK293 Cell Line | EDJ-KQ4587 | Human | 4902 | Details Get a Quote |
| NRTN Knockout HCT 116 Cell Line | EDJ-KQ28479 | Human | 4902 | Details Get a Quote |
| NRTN Knockout HeLa Cell Line | EDJ-KQ54025 | Human | 4902 | Details Get a Quote |
| NRTN Knockout A-549 Cell Line | EDJ-KQ62514 | Human | 4902 | Details Get a Quote |
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