RBM43: RNA Binding Motif Protein 43
A gene encoding an RNA-binding protein with potential roles in post-transcriptional regulation and disease association.
Gene Information Card
| Symbol | RBM43 |
|---|---|
| Full Name | RNA Binding Motif Protein 43 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 375854 ncbi.nlm.nih.gov/gene/375854 |
| Ensembl ID | ENSG00000163083 |
| UniProt ID | Q5T8P6 |
| OMIM ID | 617827 |
| HGNC ID | 26414 |
| Aliases | FLJ32743, MGC16384 |
Description
RBM43 (RNA Binding Motif Protein 43) is a protein-coding gene located on chromosome 2q31.1. It encodes a protein containing an RNA recognition motif (RRM), suggesting a role in RNA binding and post-transcriptional regulation. The gene is expressed in various tissues and has been implicated in certain cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may affect RNA splicing or stability; specific mechanism unclear | COSMIC mutation data; limited evidence |
| Developmental disorders | Potential role in RNA regulation; no direct disease association confirmed | OMIM; limited evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 4.5 | Low |
| Lung | 3.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.0 | Moderate expression |
| HeLa | 4.5 | Low expression |
| K562 | 3.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.1% | Unknown |
| c.456G>A | Synonymous | <0.1% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
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)
| • RNA binding | • nucleic acid binding |
| • nucleotide binding |
Pathways
• No specific pathways curated
Protein Summary
The RBM43 protein contains an RNA recognition motif (RRM) and is predicted to bind RNA. Its exact biological function is not fully characterized, but it may participate in post-transcriptional regulation, including splicing, stability, or transport of RNA. Expression data suggest a role in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RBM43 Knockout HEK293 Cell Line | EDJ-KQ15010 | Human | 375287 | Details Get a Quote |
| RBM43 Knockout A-549 Cell Line | EDJ-KQ44280 | Human | 375287 | Details Get a Quote |
| RBM43 Knockout HCT 116 Cell Line | EDJ-KQ45544 | Human | 375287 | Details Get a Quote |
| RBM43 Knockout HeLa Cell Line | EDJ-KQ45545 | Human | 375287 | Details Get a Quote |
