ARTN (Artemin) Gene
GDNF Family Ligand, Neurotrophic Factor
Gene Information Card
| Symbol | ARTN |
|---|---|
| Full Name | Artemin |
| Gene Type | protein-coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 9048 ncbi.nlm.nih.gov/gene/9048 |
| Ensembl ID | ENSG00000117407 |
| UniProt ID | P60025 |
| OMIM ID | 603886 |
| HGNC ID | 727 |
| Aliases | EVN, NBN, ART |
Description
ARTN (Artemin) is a member of the glial cell line-derived neurotrophic factor (GDNF) family of ligands. It encodes a secreted protein that signals through the RET receptor tyrosine kinase in complex with GFRα3 co-receptor. Artemin supports the survival, proliferation, and differentiation of neurons, particularly sensory and sympathetic neurons. It is involved in neuroprotection, pain signaling, and has been implicated in cancer progression and Hirschsprung disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hirschsprung Disease | Loss-of-function variants in ARTN impair RET/GFRα3 signaling, leading to defective enteric neuron development. | PMID: 11810287; ClinVar |
| Neuroblastoma | ARTN overexpression promotes RET-dependent tumor cell survival and migration. | PMID: 15930273; COSMIC |
| Chronic Pain | Artemin upregulation in inflamed tissues sensitizes nociceptive neurons via GFRα3/RET. | PMID: 16990514 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 0.8 | Low |
| Spinal Cord | 1.2 | Low |
| Peripheral Nerve | 3.5 | Medium |
| Skin | 2.1 | Low |
| Prostate | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 2.4 | Moderate expression |
| HEK293 | 0.3 | Low expression |
| MCF7 (breast cancer) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.316C>T (p.Arg106Cys) | Missense | <0.01% | Reduced GFRα3 binding affinity; associated with Hirschsprung disease |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of translation initiation; likely pathogenic |
| c.382G>A (p.Gly128Ser) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Missense variants (e.g., p.Arg106Cys) impair ligand-receptor interaction, reducing RET activation.
Gain of Function (GOF)
Not reported in ARTN; overexpression in tumors may act as a gain-of-function by increasing signaling.
Dominant Negative (DN)
Not described for ARTN.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACTOME: Signaling by GDNF family ligands (R-HSA-8853659)
• KEGG: Neurotrophin signaling pathway (hsa04722)
Protein Summary
Artemin is a 237-amino acid secreted protein (precursor) that is proteolytically processed to a mature 113-residue form. It contains a conserved GDNF family domain with seven cysteine residues forming a cysteine knot structure. Artemin binds specifically to GFRα3, which recruits RET to activate downstream MAPK and PI3K/AKT pathways. It is essential for the development of the enteric nervous system and modulates nociception in adults.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ARTN Knockout HEK293 Cell Line | EDJ-KQ6441 | Human | 9048 | Details Get a Quote |
| ARTN Knockout HCT 116 Cell Line | EDJ-KQ30504 | Human | 9048 | Details Get a Quote |
| ARTN Knockout HeLa Cell Line | EDJ-KQ30505 | Human | 9048 | Details Get a Quote |
| ARTN Knockout A-549 Cell Line | EDJ-KQ63546 | Human | 9048 | Details Get a Quote |
