NRG1 (Neuregulin 1) Gene
A key gene encoding ligands for ERBB receptor tyrosine kinases, involved in development, schizophrenia, and cancer.
Gene Information Card
| Symbol | NRG1 |
|---|---|
| Full Name | Neuregulin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p12 |
| NCBI Gene ID | 3084 ncbi.nlm.nih.gov/gene/3084 |
| Ensembl ID | ENSG00000157168 |
| UniProt ID | Q02297 |
| OMIM ID | 142445 |
| HGNC ID | 7997 |
| Aliases | GGF, HGL, HRG, NDF, ARIA, MST131, SMDF |
Description
NRG1 (Neuregulin 1) encodes a membrane-bound glycoprotein that is a ligand for the ERBB family of receptor tyrosine kinases (ERBB3, ERBB4). It mediates cell-cell signaling in the nervous system, heart, and breast epithelium. Alternative splicing generates multiple isoforms with distinct functions in development, synaptic plasticity, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | NRG1 variants alter neuregulin-ERBB signaling, affecting neuronal migration and synaptic function. | NCBI Gene, OMIM |
| Breast cancer | NRG1 overexpression or fusion events (e.g., NRG1 fusions) drive ERBB2/ERBB3 activation, promoting tumor growth. | COSMIC, ClinVar |
| Charcot-Marie-Tooth disease | Mutations in NRG1 disrupt Schwann cell-axon interactions, impairing peripheral nerve myelination. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Breast | 6.1 | Low |
| Lung | 4.7 | Low |
| Kidney | 3.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 5.8 | ERBB3-dependent signaling |
| SH-SY5Y (neuroblastoma) | 9.2 | Neuronal differentiation model |
| HEK293 (embryonic kidney) | 2.1 | Low endogenous expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.220C>T (p.Arg74Cys) | Missense | <0.1% | Alters ligand-receptor binding affinity |
| NRG1-ERBB4 fusion | Gene fusion | Rare | Constitutive activation of ERBB signaling in cancer |
| rs6994992 (promoter variant) | SNP | Common (allele frequency ~0.3) | Associated with schizophrenia risk |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in NRG1 impair ERBB signaling, leading to developmental defects and neuropathy.
Gain of Function (GOF)
Gain-of-function fusions (e.g., NRG1-ERBB4) drive oncogenic signaling in solid tumors.
Dominant Negative (DN)
Dominant-negative isoforms can disrupt normal neuregulin function, contributing to disease.
View complete mutation data：
Gene Ontology (GO)
| • growth factor activity (GO:0008083) | • signaling receptor binding (GO:0005102) |
| • signal transduction (GO:0007165) | • nervous system development (GO:0007399) |
| • neuron development (GO:0048666) |
Pathways
• ERBB signaling pathway (Reactome: R-HSA-1250196)
• Neuregulin signaling (KEGG: hsa04012)
Protein Summary
The NRG1 protein is synthesized as a transmembrane precursor that undergoes proteolytic cleavage to release soluble growth factors. These ligands bind ERBB3 and ERBB4 receptors, inducing dimerization with ERBB2 and activating downstream PI3K/AKT and MAPK pathways. Isoforms vary in their EGF-like domain and are critical for cardiac development, neuromuscular junction formation, and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRG1 Knockout HEK293 Cell Line | EDJ-KQ3605 | Human | 3084 | Details Get a Quote |
| NRG1 Knockout A-549 Cell Line | EDJ-KQ25517 | Human | 3084 | Details Get a Quote |
| NRG1 Knockout HCT 116 Cell Line | EDJ-KQ25518 | Human | 3084 | Details Get a Quote |
| NRG1 Knockout HeLa Cell Line | EDJ-KQ25519 | Human | 3084 | Details Get a Quote |
| NRG1 (p.P20=) Point Mutation in HAP1 Cell Line | EDC03348 | Human | 3084 | Details Get a Quote |
| NRG1 (p.A34E) Point Mutation in HAP1 Cell Line | EDC03350 | Human | 3084 | Details Get a Quote |
| NRG1 (p.P43S) Point Mutation in HAP1 Cell Line | EDC03355 | Human | 3084 | Details Get a Quote |
| NRG1 (c.-97C>A )Point Mutation in HAP1 Cell Line | EDC03349 | Human | 3084 | Details Get a Quote |
| NRG1 (c.667+7AG[7] )Point Mutation in HAP1 Cell Line | EDC03351 | Human | 3084 | Details Get a Quote |
| NRG1 (c.503-6056del T )Point Mutation in HAP1 Cell Line | EDC03352 | Human | 3084 | Details Get a Quote |
| NRG1 (c.503-44G>A )Point Mutation in HAP1 Cell Line | EDC03353 | Human | 3084 | Details Get a Quote |
| NRG1 (c.503-33C>A )Point Mutation in HAP1 Cell Line | EDC03354 | Human | 3084 | Details Get a Quote |
Displaying Records 1 To 12 Of 12 Records
