MAGOHB: A Core Splicing Factor with Emerging Roles in Cancer and Development
Comprehensive genomic and functional analysis of the MAGOHB gene, encoding a key component of the spliceosome complex.
Gene Information Card
| Symbol | MAGOHB |
|---|---|
| Full Name | Mago-nashi homolog B (Drosophila) |
| Gene Type | Protein coding |
| Chromosomal Location | 12p13.31 |
| NCBI Gene ID | 55110 ncbi.nlm.nih.gov/gene/55110 |
| Ensembl ID | ENSG00000111196 |
| UniProt ID | Q96A72 |
| OMIM ID | 617484 |
| HGNC ID | 25971 |
| Aliases | MAGOH, MGN2, mago-nashi homolog 2 |
Description
MAGOHB (Mago-nashi homolog B) is a protein-coding gene that encodes a core component of the spliceosome, specifically the exon junction complex (EJC). The EJC is deposited on spliced mRNAs and plays critical roles in post-transcriptional regulation, including nonsense-mediated decay (NMD), mRNA localization, and translation efficiency. MAGOHB is a paralog of MAGOH and is essential for proper RNA splicing and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | MAGOHB overexpression or mutation may alter splicing fidelity, promoting oncogenic isoforms. | COSMIC; PMID: 25691885 |
| Developmental disorders | Loss-of-function variants in MAGOHB are associated with microcephaly and intellectual disability. | ClinVar; PMID: 31006510 |
| Spliceosomopathies | Defects in EJC components, including MAGOHB, contribute to diseases of RNA processing. | OMIM #617484 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | High |
| Brain | 8.7 | Medium |
| Lung | 6.3 | Medium |
| Liver | 4.1 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| HEK293 | 10.1 | Embryonic kidney cells |
| K562 | 9.4 | Leukemia cell line |
| HepG2 | 7.2 | Hepatocellular carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon; likely loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Impaired EJC assembly; associated with neurodevelopmental delay |
| c.337_338del (p.Leu113fs) | Frameshift | <0.01% | Truncated protein; loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that lead to truncated or absent MAGOHB protein, impairing EJC function and RNA splicing.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported in literature.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg72Trp) may disrupt EJC assembly and exert dominant-negative effects on splicing.
View complete mutation data：
Gene Ontology (GO)
| • RNA splicing | • mRNA export from nucleus |
| • nuclear-transcribed mRNA catabolic process | • nonsense-mediated decay |
| • exon junction complex | • protein binding |
| • nucleus | • cytoplasm |
Pathways
• Spliceosome (KEGG: hsa03040)
• mRNA Surveillance Pathway (KEGG: hsa03015)
• Exon Junction Complex Pathway (Reactome: R-HSA-72163)
Protein Summary
MAGOHB encodes a 148-amino acid protein that is a core component of the exon junction complex (EJC). The protein contains a conserved Mago-nashi domain and interacts directly with other EJC components such as RBM8A (Y14) and eIF4A3. MAGOHB is essential for the deposition of the EJC onto spliced mRNAs, thereby influencing downstream processes including nonsense-mediated decay, mRNA localization, and translational control. Its paralog, MAGOH, is functionally redundant in some contexts, but MAGOHB has distinct expression patterns and may have unique roles in specific tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAGOHB Knockout HEK293 Cell Line | EDJ-KQ14183 | Human | 55110 | Details Get a Quote |
| MAGOHB Knockout A-549 Cell Line | EDJ-KQ44118 | Human | 55110 | Details Get a Quote |
| MAGOHB Knockout HCT 116 Cell Line | EDJ-KQ44119 | Human | 55110 | Details Get a Quote |
| MAGOHB Knockout HeLa Cell Line | EDJ-KQ44120 | Human | 55110 | Details Get a Quote |
