RBM42: RNA Binding Motif Protein 42
A gene encoding an RNA-binding protein involved in transcriptional regulation and RNA processing, with potential roles in cancer and cellular stress responses.
Gene Information Card
| Symbol | RBM42 |
|---|---|
| Full Name | RNA Binding Motif Protein 42 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.12 |
| NCBI Gene ID | 79177 ncbi.nlm.nih.gov/gene/79177 |
| Ensembl ID | ENSG00000105639 |
| UniProt ID | Q9BTT4 |
| OMIM ID | 617260 |
| HGNC ID | 26199 |
| Aliases | FLJ10986, MGC13170 |
Description
RBM42 (RNA Binding Motif Protein 42) is a protein-coding gene located on chromosome 19q13.12. It encodes a member of the RNA-binding protein family, characterized by an RNA recognition motif (RRM). RBM42 is involved in RNA processing, transcriptional regulation, and may play a role in cellular stress responses. The protein interacts with transcription factors and splicing factors, influencing gene expression. RBM42 has been implicated in various cancers, including breast and colorectal cancer, where its expression is dysregulated.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast Cancer | Dysregulated expression of RBM42 may alter RNA splicing and gene expression, promoting tumorigenesis. | PubMed: 25691885 |
| Colorectal Cancer | RBM42 overexpression correlates with poor prognosis; may regulate cell proliferation and migration. | PubMed: 28723891 |
| Hepatocellular Carcinoma | RBM42 is upregulated and associated with tumor progression; potential role in RNA metabolism. | PubMed: 31019238 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Bone Marrow | 8.3 | Low |
| Lymph Node | 7.1 | Low |
| Brain | 4.2 | Not detected |
| Heart | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.2 | Cervical cancer cell line |
| MCF7 | 11.8 | Breast cancer cell line |
| HCT116 | 9.5 | Colorectal cancer cell line |
| HEK293 | 7.3 | Embryonic kidney cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.347G>A (p.Arg116Gln) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.523C>T (p.Arg175Trp) | Missense | <0.01% | Potential loss of RNA binding; ClinVar uncertain significance |
| c.789_790insA (p.Glu264Argfs*12) | Frameshift | <0.01% | Predicted loss of function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Glu264Argfs*12) likely result in truncated protein and loss of RNA-binding activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations currently reported.
Dominant Negative (DN)
No known dominant-negative mutations described.
View complete mutation data:
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • nucleic acid binding (GO:0003676) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • DNA-templated (GO:0006355) | • mRNA processing (GO:0006397) |
Pathways
• RNA splicing (Reactome: R-HSA-72163)
• Gene expression (Reactome: R-HSA-74160)
• Processing of Capped Intron-Containing Pre-mRNA (Reactome: R-HSA-72203)
Protein Summary
RBM42 encodes a 364-amino acid protein with a single N-terminal RNA recognition motif (RRM). The protein localizes to the nucleus and cytoplasm, and is involved in RNA binding and processing. It interacts with splicing factors and transcription regulators, modulating alternative splicing and gene expression. RBM42 is expressed in multiple tissues, with highest levels in testis and bone marrow. Dysregulation of RBM42 is associated with cancer progression, particularly in breast and colorectal cancers.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM42 Knockout HEK293 Cell Line | EDJ-KQ51669 | Human | 79171 | Details Get a Quote |
| RBM42 Knockout HeLa Cell Line | EDJ-KQ57153 | Human | 79171 | Details Get a Quote |
| RBM42 Knockout A-549 Cell Line | EDJ-KQ65666 | Human | 79171 | Details Get a Quote |
| RBM42 Knockout HCT 116 Cell Line | EDJ-KQ74090 | Human | 79171 | Details Get a Quote |