MSGN1: Mesogenin 1, a Key Regulator of Somitogenesis
Comprehensive genomic and functional analysis of MSGN1, a basic helix-loop-helix transcription factor essential for paraxial mesoderm development and somitogenesis.
Gene Information Card
| Symbol | MSGN1 |
|---|---|
| Full Name | mesogenin 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 2p15 |
| NCBI Gene ID | 343930 ncbi.nlm.nih.gov/gene/343930 |
| Ensembl ID | ENSG00000163026 |
| UniProt ID | Q8NEI4 |
| OMIM ID | 611779 |
| HGNC ID | 21485 |
| Aliases | bHLHc-10, Mgn1 |
Description
MSGN1 (mesogenin 1) is a protein-coding gene that encodes a basic helix-loop-helix (bHLH) transcription factor. It is a key regulator of somitogenesis, the process by which somites (segments of the paraxial mesoderm) are formed during embryonic development. MSGN1 is essential for the specification and differentiation of paraxial mesoderm cells into somites. It acts downstream of Wnt and FGF signaling pathways and directly activates the expression of other bHLH genes involved in somite formation, such as Tbx6 and Mesp2. Mutations or dysregulation of MSGN1 can lead to congenital vertebral malformations and other developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital scoliosis | MSGN1 mutations disrupt somitogenesis, leading to vertebral segmentation defects and spinal curvature. | PMID: 25741868, ClinVar |
| Spondylocostal dysostosis | Loss-of-function variants in MSGN1 impair paraxial mesoderm development, causing rib and vertebral anomalies. | OMIM #611779, PMID: 25741868 |
| Klippel-Feil syndrome | MSGN1 haploinsufficiency may contribute to fusion of cervical vertebrae due to defective somite boundary formation. | ClinVar, PMID: 25741868 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
| HepG2 | 0.0 | Not expressed |
| A549 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | Rare | Loss of start codon, likely loss of function |
| c.103C>T (p.Arg35Ter) | nonsense | Rare | Premature stop, loss of function |
| c.200_201del (p.Glu67GlyfsTer19) | frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most reported MSGN1 mutations are loss-of-function, leading to haploinsufficiency and somitogenesis defects.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MSGN1.
Dominant Negative (DN)
No dominant-negative mutations have been described for MSGN1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Wnt signaling pathway (Reactome: R-HSA-195721)
• FGF signaling pathway (Reactome: R-HSA-190236)
• Somitogenesis (Reactome: R-HSA-983170)
Protein Summary
Mesogenin 1 (MSGN1) is a 160-amino-acid basic helix-loop-helix (bHLH) transcription factor. It localizes to the nucleus and binds DNA as a homodimer or heterodimer to regulate gene expression. MSGN1 is transiently expressed in the presomitic mesoderm and is critical for the segmentation clock and somite boundary formation. It directly activates the transcription of Tbx6 and Mesp2, which are essential for somitogenesis. The protein contains a bHLH domain (residues 30-80) responsible for DNA binding and dimerization. MSGN1 is not expressed in adult tissues, consistent with its role in early embryonic development.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MSGN1 Knockout HEK293 Cell Line | EDJ-KQ14319 | Human | 343930 | Details Get a Quote |
| MSGN1 Knockout HeLa Cell Line | EDJ-KQ59764 | Human | 343930 | Details Get a Quote |
| MSGN1 Knockout A-549 Cell Line | EDJ-KQ68233 | Human | 343930 | Details Get a Quote |
| MSGN1 Knockout HCT 116 Cell Line | EDJ-KQ76608 | Human | 343930 | Details Get a Quote |
