MAGOH Gene
Mago Homolog, Exon Junction Complex Subunit
Gene Information Card
| Symbol | MAGOH |
|---|---|
| Full Name | Mago Homolog, Exon Junction Complex Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 1p34.1 |
| NCBI Gene ID | 4116 ncbi.nlm.nih.gov/gene/4116 |
| Ensembl ID | ENSG00000162396 |
| UniProt ID | P61326 |
| OMIM ID | 602603 |
| HGNC ID | 6815 |
| Aliases | MAGOHA, Mago, MGN, mago-nashi homolog |
Description
The MAGOH gene encodes the Mago homolog protein, a core component of the exon junction complex (EJC). The EJC is deposited on spliced mRNAs upstream of exon-exon junctions and plays a critical role in post-transcriptional regulation, including nonsense-mediated decay (NMD), mRNA localization, splicing, and translational enhancement. MAGOH is evolutionarily conserved and essential for cell viability.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of EJC components, including MAGOH, can alter NMD efficiency and mRNA export, contributing to oncogenic transformation. | COSMIC; literature review |
| Developmental disorders | MAGOH haploinsufficiency or loss-of-function mutations may impair EJC function, leading to aberrant splicing and NMD, potentially linked to neurodevelopmental phenotypes. | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 48.2 | High |
| Brain | 35.1 | High |
| Lung | 28.4 | Medium |
| Liver | 22.7 | Medium |
| Heart | 19.3 | Medium |
| Kidney | 18.6 | Medium |
| Pancreas | 15.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 42.5 | Cervical carcinoma; high expression |
| HEK293 | 38.1 | Embryonic kidney; high expression |
| K562 | 30.2 | Leukemia; medium expression |
| HepG2 | 25.8 | Hepatocellular carcinoma; medium expression |
| A549 | 22.4 | Lung carcinoma; medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense (start loss) | <0.01% | Likely loss of function; potential impact on translation initiation |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.346G>A (p.Glu116Lys) | Missense | <0.01% | Unknown; reported in COSMIC in cancer samples |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MAGOH are expected to disrupt EJC assembly, impairing NMD and mRNA surveillance, potentially leading to genomic instability and disease.
Gain of Function (GOF)
No documented gain-of-function mutations for MAGOH.
Dominant Negative (DN)
No documented dominant-negative mutations for MAGOH.
View complete mutation data：
Gene Ontology (GO)
Pathways
• REACT:1788 - Nonsense-Mediated Decay (NMD)
• REACT:1790 - mRNA Splicing - Major Pathway
• REACT:1792 - Processing of Capped Intron-Containing Pre-mRNA
Protein Summary
The MAGOH protein (UniProt P61326) is a 148-amino acid, 17 kDa component of the exon junction complex (EJC). It forms a heterodimer with RBM8A (Y14) and interacts with other EJC core factors (eIF4A3, MLN51). The protein is highly conserved and essential for embryonic development. Its structure includes a central beta-sheet flanked by alpha-helices, mediating RNA and protein interactions critical for EJC function.
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 |
