RPRD2
Regulation of Nuclear Pre-mRNA Domain Containing 2
Gene Information Card
| Symbol | RPRD2 |
|---|---|
| Full Name | Regulation of Nuclear Pre-mRNA Domain Containing 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q21.2 |
| NCBI Gene ID | 23241 ncbi.nlm.nih.gov/gene/23241 |
| Ensembl ID | ENSG00000117461 |
| UniProt ID | Q9NUV7 |
| OMIM ID | 618606 |
| HGNC ID | 29001 |
| Aliases | FLJ20032, KIAA0546, RPRD2 |
Description
RPRD2 encodes a protein involved in the regulation of transcription and pre-mRNA processing. It interacts with RNA polymerase II and influences the transition from transcription initiation to elongation. The protein contains a conserved RPRD domain and is implicated in cell cycle control and DNA damage response.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect transcriptional regulation and cell proliferation | NCBI Gene, COSMIC |
| Breast cancer | Mutations and expression changes observed in tumor samples | COSMIC, ClinVar |
| Lung cancer | Somatic mutations reported in lung adenocarcinoma | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Embryonic kidney |
| HeLa | 9.8 | Cervical carcinoma |
| A549 | 7.5 | Lung carcinoma |
| MCF7 | 6.2 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.1% | p.Pro412Ser; uncertain significance |
| c.567_568del | Frameshift | <0.01% | Predicted loss of function |
| c.890A>G | Missense | <0.05% | p.Asn297Ser; likely benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift deletions predicted to truncate the protein and disrupt RNA polymerase II interaction.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described in current literature.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005634 (GO:0005634) | • GO:0006366 (GO:0006366) |
| • GO:0006355 (GO:0006355) | • GO:0005515 (GO:0005515) |
Pathways
• Transcription by RNA polymerase II
• mRNA processing
Protein Summary
The RPRD2 protein is 1,474 amino acids long and localizes to the nucleus. It contains an RPRD domain that mediates binding to RNA polymerase II and is involved in the regulation of transcription elongation and pre-mRNA splicing. The protein also plays a role in cell cycle progression and response to DNA damage.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RPRD2 Knockout HEK293 Cell Line | EDJ-KQ7916 | Human | 23248 | Details Get a Quote |
| RPRD2 Knockout HCT 116 Cell Line | EDJ-KQ32214 | Human | 23248 | Details Get a Quote |
| RPRD2 Knockout A-549 Cell Line | EDJ-KQ33541 | Human | 23248 | Details Get a Quote |
| RPRD2 Knockout HeLa Cell Line | EDJ-KQ33543 | Human | 23248 | Details Get a Quote |
