EBNA1BP2: EBNA1 Binding Protein 2
A nucleolar protein involved in ribosome biogenesis and potential cancer biomarker
Gene Information Card
| Symbol | EBNA1BP2 |
|---|---|
| Full Name | EBNA1 binding protein 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p35.1 |
| NCBI Gene ID | 10969 ncbi.nlm.nih.gov/gene/10969 |
| Ensembl ID | ENSG00000117419 |
| UniProt ID | Q99848 |
| OMIM ID | 609521 |
| HGNC ID | 20492 |
| Aliases | EBP2, NOBP, P40, MGC117314 |
Description
EBNA1BP2 (EBNA1 binding protein 2) encodes a nucleolar protein that binds to the Epstein-Barr virus nuclear antigen 1 (EBNA1). The protein is involved in ribosome biogenesis, specifically in the processing of pre-rRNA and assembly of the 60S ribosomal subunit. It is ubiquitously expressed and has been implicated in various cancers, including breast cancer and hepatocellular carcinoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Overexpression of EBNA1BP2 may promote cell proliferation and tumor growth; potential biomarker | PMID: 25605274 |
| Hepatocellular Carcinoma | Upregulation associated with poor prognosis; may enhance ribosome biogenesis and cell cycle progression | PMID: 29351298 |
| Epstein-Barr Virus-associated diseases | EBNA1BP2 interacts with EBNA1, potentially modulating viral latency and oncogenesis | PMID: 10557339 |
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 | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression |
| HEK293 | 14.2 | Medium expression |
| MCF7 | 16.0 | High expression |
| HepG2 | 13.7 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.341G>A (p.Arg114His) | Missense | <0.01% | Unknown; rare variant in population databases |
| c.572C>T (p.Pro191Leu) | Missense | <0.01% | Unknown; rare variant in population databases |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleolus (GO:0005730) | • rRNA processing (GO:0006364) |
| • ribosome biogenesis (GO:0042254) | • protein binding (GO:0005515) |
| • RNA binding (GO:0003723) |
Pathways
• Ribosome biogenesis in eukaryotes (Reactome: R-HSA-6791226)
• rRNA processing in the nucleolus (Reactome: R-HSA-72312)
Protein Summary
EBNA1BP2 is a 40 kDa nucleolar protein that localizes to the dense fibrillar component of the nucleolus. It contains a conserved N-terminal domain and a C-terminal region rich in basic residues. The protein binds to EBNA1 via its N-terminal domain and is essential for pre-rRNA processing and 60S ribosomal subunit assembly. It interacts with multiple ribosomal proteins and nucleolar factors, including NPM1 and RPL11.
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