NEO1 (Neogenin 1) Gene: Functions, Expression, and Clinical Significance
Comprehensive resource on NEO1, a member of the immunoglobulin superfamily involved in axon guidance, cell migration, and cancer.
Gene Information Card
| Symbol | NEO1 |
|---|---|
| Full Name | neogenin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 15q24.1 |
| NCBI Gene ID | 4756 ncbi.nlm.nih.gov/gene/4756 |
| Ensembl ID | ENSG00000167136 |
| UniProt ID | Q92859 |
| OMIM ID | 601907 |
| HGNC ID | 7754 |
| Aliases | NGN, NEO1_HUMAN, neogenin |
Description
NEO1 (neogenin 1) encodes a transmembrane protein belonging to the immunoglobulin superfamily. It functions as a receptor for netrins (e.g., NTN1) and repulsive guidance molecules (RGMs), playing critical roles in axon guidance, cell migration, angiogenesis, and apoptosis. NEO1 is involved in neural development, muscle regeneration, and has been implicated in various cancers and congenital disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered NEO1 expression may promote tumor invasion and metastasis via netrin signaling | PMID: 23454731 |
| Breast cancer | NEO1 overexpression correlates with poor prognosis; involved in cell migration | PMID: 25636874 |
| Congenital heart disease | NEO1 variants associated with cardiac outflow tract defects | PMID: 28426893 |
| Neural tube defects | NEO1 mutations disrupt netrin signaling, impairing neural tube closure | PMID: 22689649 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 3.1 | Low |
| Kidney | 6.7 | Low |
| Lung | 5.9 | Low |
| Skeletal muscle | 4.2 | Low |
| Placenta | 10.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression in embryonic kidney cells |
| HeLa | 8.9 | Moderate expression in cervical cancer cells |
| MCF7 | 11.4 | Elevated in breast cancer cell line |
| SH-SY5Y | 14.7 | High in neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2152C>T (p.Arg718Trp) | Missense | Rare | Alters netrin binding; associated with neural tube defects |
| c.3140G>A (p.Arg1047Gln) | Missense | Rare | Reported in congenital heart disease; functional impact unknown |
| c.1234_1236del (p.Lys412del) | In-frame deletion | Rare | May affect receptor dimerization |
Mutation functional classification
Loss of Function (LOF)
Missense variants in the fibronectin type III domains reduce netrin binding and downstream signaling, impairing axon guidance.
Gain of Function (GOF)
Not well documented; overexpression in cancers may confer gain-of-function in cell migration.
Dominant Negative (DN)
Truncating or deletion mutations may interfere with wild-type receptor function, leading to dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cell adhesion (GO:0007155) | • axon guidance (GO:0007411) |
| • receptor activity (GO:0004872) | • plasma membrane (GO:0005886) |
| • protein binding (GO:0005515) | • signaling receptor activity (GO:0038023) |
Pathways
• Netrin signaling (R-HSA-373752)
• Axon guidance (R-HSA-422475)
• RGM/Neogenin signaling (R-HSA-9013408)
Protein Summary
Neogenin 1 is a 1461-amino acid transmembrane receptor with four immunoglobulin-like domains and six fibronectin type III domains in the extracellular region. It binds netrins and RGMs, activating downstream pathways such as MAPK and Rho GTPases. The protein is critical for neuronal development, cell survival, and migration. Alternative splicing generates multiple isoforms.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NEO1 Knockout HEK293 Cell Line | EDJ-KQ393 | Human | 4756 | Details Get a Quote |
| NEO1 Knockout A-549 Cell Line | EDJ-KQ18611 | Human | 4756 | Details Get a Quote |
| NEO1 Knockout HCT 116 Cell Line | EDJ-KQ18612 | Human | 4756 | Details Get a Quote |
| NEO1 Knockout HeLa Cell Line | EDJ-KQ18613 | Human | 4756 | Details Get a Quote |
