PNRC2: Proline-Rich Nuclear Receptor Coactivator 2
A gene encoding a nuclear receptor coactivator involved in transcriptional regulation and nonsense-mediated mRNA decay.
Gene Information Card
| Symbol | PNRC2 |
|---|---|
| Full Name | Proline-Rich Nuclear Receptor Coactivator 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.11 |
| NCBI Gene ID | 55629 ncbi.nlm.nih.gov/gene/55629 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | Q9NPJ4 |
| OMIM ID | 606714 |
| HGNC ID | HGNC:19390 |
| Aliases | PRR2, PRO1902, MGC138290 |
Description
PNRC2 (Proline-Rich Nuclear Receptor Coactivator 2) encodes a protein that functions as a coactivator of nuclear receptors, including estrogen receptor alpha (ERα) and androgen receptor (AR). It contains a proline-rich region and interacts with the C-terminal domain of RNA polymerase II. PNRC2 is also a component of the nonsense-mediated mRNA decay (NMD) pathway, binding to UPF1 and promoting mRNA decay. The gene is located on chromosome 1p36.11 and is broadly expressed in human tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | PNRC2 coactivates ERα; overexpression may enhance estrogen signaling and tumor growth. | PMID: 11564754; NCBI Gene |
| Prostate Cancer | PNRC2 coactivates AR; altered expression linked to androgen-dependent proliferation. | PMID: 11564754; NCBI Gene |
| Nonsense-Mediated Decay Disorders | PNRC2 interacts with UPF1; defects in NMD pathway may contribute to genetic disorders. | UniProt; PMID: 19029303 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 5.2 | Low |
| Brain cortex | 8.1 | Medium |
| Breast | 6.3 | Medium |
| Colon | 7.0 | Medium |
| Heart | 4.5 | Low |
| Kidney | 6.8 | Medium |
| Liver | 5.9 | Medium |
| Lung | 7.4 | Medium |
| Ovary | 6.1 | Medium |
| Prostate | 7.8 | Medium |
| Testis | 9.2 | High |
| Thyroid | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 8.5 | Embryonic kidney; high expression |
| HeLa | 7.2 | Cervical carcinoma; moderate expression |
| MCF7 | 6.9 | Breast cancer; moderate expression |
| HepG2 | 5.8 | Hepatocellular carcinoma; moderate expression |
| K562 | 4.3 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Potential loss of start codon; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Rare variant; functional impact not characterized |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Rare variant; no known disease association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PNRC2. Predicted truncating variants may impair NMD coactivator function.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT: R-HSA-975956 (Nonsense-Mediated Decay (NMD))
• REACT: R-HSA-212436 (Generic Transcription Pathway)
• REACT: R-HSA-8939211 (ESR-mediated signaling)
Protein Summary
The PNRC2 protein (UniProt Q9NPJ4) is a 385-amino acid proline-rich nuclear receptor coactivator. It contains a proline-rich region (residues 1-100) and a C-terminal domain that interacts with RNA polymerase II. PNRC2 functions as a coactivator for nuclear receptors such as ERα and AR, enhancing their transcriptional activity. Additionally, PNRC2 is a key component of the nonsense-mediated mRNA decay pathway, where it binds UPF1 and facilitates mRNA degradation. The protein is localized to the nucleus and is expressed in multiple tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PNRC2 Knockout HEK293 Cell Line | EDJ-KQ14823 | Human | 55629 | Details Get a Quote |
| PNRC2 Knockout HeLa Cell Line | EDJ-KQ43995 | Human | 55629 | Details Get a Quote |
| PNRC2 Knockout A-549 Cell Line | EDJ-KQ45257 | Human | 55629 | Details Get a Quote |
| PNRC2 Knockout HCT 116 Cell Line | EDJ-KQ45258 | Human | 55629 | Details Get a Quote |
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