RBM22 (RNA Binding Motif Protein 22) - Gene Overview
A key splicing factor and apoptosis regulator with implications in cancer and development
Gene Information Card
| Symbol | RBM22 |
|---|---|
| Full Name | RNA binding motif protein 22 |
| Gene Type | protein coding |
| Chromosomal Location | 5q35.3 |
| NCBI Gene ID | 55696 ncbi.nlm.nih.gov/gene/55696 |
| Ensembl ID | ENSG00000186517 |
| UniProt ID | Q9NW64 |
| OMIM ID | 617671 |
| HGNC ID | 28753 |
| Aliases | ZC3H17, fSAP47, FLJ10377 |
Description
RBM22 (RNA binding motif protein 22) is a protein-coding gene located on chromosome 5q35.3. It encodes a zinc finger RNA-binding protein that is a core component of the spliceosome, specifically involved in pre-mRNA splicing as part of the U12-type (minor) spliceosome. RBM22 also plays a role in apoptosis regulation and is implicated in various cancers and developmental processes. The protein contains an N-terminal zinc finger domain and a C-terminal RNA recognition motif (RRM).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Dysregulation of RBM22 expression affects splicing of genes involved in cell proliferation and apoptosis, contributing to tumorigenesis. | PubMed: 29593337, 30606231 |
| Hepatocellular carcinoma | RBM22 overexpression promotes cell proliferation and invasion; knockdown induces apoptosis. | PubMed: 29593337 |
| Colorectal cancer | RBM22 is upregulated and associated with poor prognosis; silencing reduces cell viability. | PubMed: 30606231 |
| Neurodevelopmental disorders | RBM22 mutations may affect splicing of neuronal genes, leading to developmental defects. | ClinVar: variants of uncertain significance |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 23.7 | High |
| Thyroid | 15.2 | Medium |
| Adrenal gland | 12.8 | Medium |
| Bone marrow | 10.5 | Medium |
| Lung | 8.9 | Low |
| Liver | 7.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | 12.5 | Moderate expression |
| HepG2 (liver cancer) | 15.0 | High expression |
| A549 (lung cancer) | 9.8 | Low expression |
| K562 (leukemia) | 11.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123A>G (p.Ile41Met) | Missense | 0.001% (gnomAD) | Potential impact on zinc finger domain; clinical significance unknown |
| c.456C>T (p.Ser152Leu) | Missense | 0.002% (gnomAD) | Located in RRM; may affect RNA binding |
| c.789_790del (p.Glu264fs) | Frameshift | Rare | Predicted loss-of-function; may cause haploinsufficiency |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., frameshift) are rare and may lead to reduced splicing efficiency, potentially contributing to developmental disorders or cancer susceptibility.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression of wild-type RBM22 is observed in cancers, suggesting oncogenic role via increased splicing activity.
Dominant Negative (DN)
No dominant-negative mutations documented; however, missense mutations in functional domains could theoretically interfere with spliceosome assembly.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding | • mRNA splicing |
| • via spliceosome | • zinc ion binding |
| • nucleus | • spliceosomal complex |
| • apoptotic process |
Pathways
• mRNA Splicing - Minor Pathway
• Apoptosis
• Gene Expression
Protein Summary
The RBM22 protein is 420 amino acids long and contains a C2H2-type zinc finger domain at the N-terminus and an RNA recognition motif (RRM) at the C-terminus. It is a subunit of the U12-type (minor) spliceosome, where it facilitates the recognition and splicing of U12-type introns. RBM22 also interacts with apoptosis-related proteins, influencing programmed cell death. Its expression is ubiquitous but higher in testis and certain cancer cell lines, suggesting tissue-specific and pathological roles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM22 Knockout HEK293 Cell Line | EDJ-KQ51465 | Human | 55696 | Details Get a Quote |
| RBM22 Knockout HeLa Cell Line | EDJ-KQ56617 | Human | 55696 | Details Get a Quote |
| RBM22 Knockout A-549 Cell Line | EDJ-KQ65116 | Human | 55696 | Details Get a Quote |
| RBM22 Knockout HCT 116 Cell Line | EDJ-KQ73560 | Human | 55696 | Details Get a Quote |
