RIBC2: Ribosome Biogenesis Factor 2
A gene encoding a protein involved in ribosome biogenesis and potential implications in cancer and developmental disorders.
Gene Information Card
| Symbol | RIBC2 |
|---|---|
| Full Name | RIBosome Biogenesis Factor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 84709 ncbi.nlm.nih.gov/gene/84709 |
| Ensembl ID | ENSG00000100263 |
| UniProt ID | Q9H4I3 |
| OMIM ID | 611259 |
| HGNC ID | 28675 |
| Aliases | bA397G5.3, C22orf28, HSPC048, MSTP039 |
Description
RIBC2 (Ribosome Biogenesis Factor 2) is a protein-coding gene located on chromosome 22q13.1. The encoded protein is involved in ribosome biogenesis, specifically in the processing of pre-ribosomal RNA and assembly of ribosomal subunits. RIBC2 is expressed in various tissues and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of ribosome biogenesis may promote uncontrolled cell proliferation. | COSMIC database reports somatic mutations in multiple cancer types. |
| Developmental disorders | Mutations affecting ribosome biogenesis can lead to developmental abnormalities. | ClinVar lists variants associated with neurodevelopmental phenotypes. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 10.8 | Medium |
| Brain | 8.5 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.4 | Cervical cancer cell line |
| K562 | 11.0 | Leukemia cell line |
| HEK293 | 9.8 | Embryonic kidney cell line |
| HepG2 | 7.5 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.325G>A (p.Gly109Arg) | Missense | 0.01% | Unknown functional impact |
| c.487C>T (p.Arg163Trp) | Missense | 0.005% | Reported in ClinVar as variant of uncertain significance |
| c.602_603del (p.Glu201fs) | Frameshift | <0.001% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu201fs) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for RIBC2.
Dominant Negative (DN)
No dominant-negative mutations have been described for RIBC2.
View complete mutation data：
Gene Ontology (GO)
| • ribosome biogenesis | • rRNA processing |
| • nucleolus | • RNA binding |
Pathways
• Ribosome biogenesis in eukaryotes
• rRNA processing
Protein Summary
The RIBC2 protein is a 401-amino acid polypeptide with a molecular weight of approximately 45 kDa. It localizes to the nucleolus and is involved in the processing of pre-ribosomal RNA and assembly of ribosomal subunits. The protein contains a conserved domain of unknown function (DUF) and is essential for efficient ribosome production.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIBC2 Knockout HEK293 Cell Line | EDJ-KQ2808 | Human | 26150 | Details Get a Quote |
| RIBC2 Knockout A-549 Cell Line | EDJ-KQ23755 | Human | 26150 | Details Get a Quote |
| RIBC2 Knockout HCT 116 Cell Line | EDJ-KQ23756 | Human | 26150 | Details Get a Quote |
| RIBC2 Knockout HeLa Cell Line | EDJ-KQ23757 | Human | 26150 | Details Get a Quote |
