NRG2 (Neuregulin 2)
A member of the neuregulin family involved in cell signaling, growth, and differentiation, with roles in nervous system development and cancer.
Gene Information Card
| Symbol | NRG2 |
|---|---|
| Full Name | Neuregulin 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q31.2 |
| NCBI Gene ID | 9542 ncbi.nlm.nih.gov/gene/9542 |
| Ensembl ID | ENSG00000158458 |
| UniProt ID | O14511 |
| OMIM ID | 603818 |
| HGNC ID | 7998 |
| Aliases | NDF, NTAK, DON-1, HRG2, neuregulin-2 |
Description
NRG2 (Neuregulin 2) encodes a member of the neuregulin family of growth factors. The protein is a ligand for the ErbB family of receptor tyrosine kinases (ErbB3 and ErbB4) and plays critical roles in cell-cell signaling, neuronal development, cardiac development, and epithelial cell growth. Alternative splicing generates multiple isoforms with distinct functions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered NRG2-ErbB4 signaling may disrupt synaptic plasticity and neurotransmission; genetic association studies implicate NRG2 variants in schizophrenia risk. | ClinVar, OMIM |
| Breast Cancer | NRG2 overexpression or aberrant splicing can activate ErbB3/ErbB4 signaling, promoting tumor cell proliferation and survival. | COSMIC, NCBI |
| Colorectal Cancer | Somatic mutations and altered expression of NRG2 have been observed in colorectal tumors, potentially contributing to oncogenic signaling. | COSMIC |
| Heart Failure | NRG2 is involved in cardiac development and repair; dysregulation may impair cardiomyocyte survival and function. | NCBI, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 1.2 | Not detected |
| Kidney | 4.5 | Low |
| Breast | 7.8 | Low |
| Colon | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model; moderate expression |
| MCF7 (breast cancer) | 9.8 | Hormone-responsive; low expression |
| HCT116 (colorectal carcinoma) | 11.4 | Moderate expression |
| HEK293 (embryonic kidney) | 3.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.245G>A (p.Arg82Gln) | Missense | <0.01% | Likely benign; ClinVar |
| c.568_569insA (p.Leu190fs) | Frameshift | <0.01% | Loss of function; COSMIC |
| c.742C>T (p.Arg248Trp) | Missense | <0.01% | Reported in colorectal cancer; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu190fs) are predicted to truncate the protein, impairing ligand-receptor binding and downstream signaling.
Gain of Function (GOF)
Missense mutations in the EGF-like domain (e.g., p.Arg248Trp) may enhance receptor activation, contributing to oncogenic signaling.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported for NRG2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ErbB signaling pathway (KEGG: hsa04012)
• Neuregulin signaling (Reactome: R-HSA-1227986)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
Neuregulin 2 (NRG2) is a secreted or membrane-bound growth factor containing an EGF-like domain that binds to ErbB3 and ErbB4 receptors. It is synthesized as a precursor that undergoes proteolytic cleavage to release the active ligand. NRG2 is involved in neuronal migration, synapse formation, cardiac development, and epithelial cell growth. Isoforms vary in their tissue distribution and receptor affinity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| NRG2 Knockout HEK293 Cell Line | EDJ-KQ6632 | Human | 9542 | Details Get a Quote |
| NRG2 Knockout A-549 Cell Line | EDJ-KQ30884 | Human | 9542 | Details Get a Quote |
| NRG2 Knockout HCT 116 Cell Line | EDJ-KQ30885 | Human | 9542 | Details Get a Quote |
| NRG2 Knockout HeLa Cell Line | EDJ-KQ55189 | Human | 9542 | Details Get a Quote |
