RPF2: Ribosome Production Factor 2 Homolog
A key ribosome biogenesis factor involved in 60S ribosomal subunit assembly and implicated in cancer and developmental disorders.
Gene Information Card
| Symbol | RPF2 |
|---|---|
| Full Name | Ribosome Production Factor 2 Homolog |
| Gene Type | Protein coding |
| Chromosomal Location | 6q21 |
| NCBI Gene ID | 84154 ncbi.nlm.nih.gov/gene/84154 |
| Ensembl ID | ENSG00000112414 |
| UniProt ID | Q9H7B2 |
| OMIM ID | 611714 |
| HGNC ID | 24802 |
| Aliases | Bxdc1, bA397G5.3, PRO1960 |
Description
RPF2 (Ribosome Production Factor 2 Homolog) encodes a nucleolar protein essential for the biogenesis of the 60S ribosomal subunit. It is involved in the early steps of pre-rRNA processing and assembly of ribosomal proteins. RPF2 is conserved from yeast to humans and plays a critical role in ribosome maturation, cell growth, and proliferation. Dysregulation of RPF2 has been linked to various cancers and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | Overexpression of RPF2 promotes ribosome biogenesis and cell proliferation, contributing to tumorigenesis. | PMID: 29395074 |
| Hepatocellular Carcinoma | RPF2 upregulation correlates with poor prognosis and increased ribosome production. | PMID: 31065109 |
| Developmental Delay / Intellectual Disability | De novo missense variants in RPF2 have been reported in patients with neurodevelopmental phenotypes. | ClinVar: RCV000626014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 12.8 | Medium |
| Bone marrow | 11.5 | Medium |
| Brain | 6.3 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 18.4 | Leukemia cell line; high expression |
| HeLa | 14.7 | Cervical carcinoma; moderate-high |
| HepG2 | 12.1 | Hepatocellular carcinoma; moderate |
| A549 | 9.8 | Lung carcinoma; moderate |
| SH-SY5Y | 7.2 | Neuroblastoma; low-moderate |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense / Start loss | Rare | Loss of protein expression; likely loss-of-function |
| c.325C>T (p.Arg109Trp) | Missense | 0.001% (gnomAD) | Unknown; reported in ClinVar as VUS |
| c.682G>A (p.Glu228Lys) | Missense | 0.002% (gnomAD) | Unknown; associated with developmental delay |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., p.Met1?) lead to absence of functional RPF2 protein, impairing ribosome biogenesis.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in RPF2.
Dominant Negative (DN)
No evidence for dominant-negative effects in RPF2.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • RNA binding (GO:0003723) |
| • maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462) |
Pathways
• Ribosome biogenesis in eukaryotes (KEGG: hsa03008)
• rRNA processing in the nucleus and cytosol (Reactome: R-HSA-8868773)
Protein Summary
RPF2 is a 389-amino acid nucleolar protein with a molecular weight of approximately 44 kDa. It contains a conserved Brix domain involved in ribosome assembly. RPF2 directly binds to pre-60S ribosomal particles and facilitates the incorporation of ribosomal protein L5 (RPL5) and the 5S RNP complex. The protein is essential for the early maturation steps of the large ribosomal subunit. Its expression is highest in tissues with active cell division, such as testis and bone marrow.
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