MESP2
Mesoderm Posterior BHLH Transcription Factor 2
Gene Information Card
| Symbol | MESP2 |
|---|---|
| Full Name | Mesoderm Posterior BHLH Transcription Factor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q26.1 |
| NCBI Gene ID | 145873 ncbi.nlm.nih.gov/gene/145873 |
| Ensembl ID | ENSG00000188095 |
| UniProt ID | Q0VG99 |
| OMIM ID | 605195 |
| HGNC ID | 29659 |
| Aliases | bHLHc6, SCDO2 |
Description
MESP2 encodes a basic helix-loop-helix (bHLH) transcription factor that plays a critical role in somitogenesis, the process of segmenting the paraxial mesoderm into somites during embryonic development. MESP2 is a key downstream target of Notch signaling and is essential for establishing the rostrocaudal polarity of somites and for the formation of the vertebral column. Mutations in MESP2 cause autosomal recessive spondylocostal dysostosis type 2 (SCDO2), a disorder characterized by vertebral segmentation defects and rib anomalies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondylocostal dysostosis 2 (SCDO2) | Loss-of-function mutations in MESP2 disrupt somite segmentation and rostrocaudal patterning, leading to vertebral and rib malformations. | OMIM #608681; multiple case reports with homozygous or compound heterozygous mutations in MESP2. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| No data available |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.259C>T (p.Arg87Trp) | Missense | Rare (found in SCDO2 families) | Loss of DNA-binding and transcriptional activity; disrupts nuclear localization. |
| c.427C>T (p.Arg143Ter) | Nonsense | Rare | Premature stop codon; likely leads to nonsense-mediated decay and loss of function. |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of translation initiation; complete loss of protein. |
Mutation functional classification
Loss of Function (LOF)
All reported pathogenic MESP2 mutations are loss-of-function, leading to haploinsufficiency or complete loss of protein activity, causing SCDO2.
Gain of Function (GOF)
No gain-of-function mutations have been reported for MESP2.
Dominant Negative (DN)
No dominant-negative mutations have been reported for MESP2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Notch signaling pathway (KEGG: hsa04330)
• Segmentation clock (Reactome: R-HSA-9824439)
Protein Summary
MESP2 is a 397-amino acid bHLH transcription factor that localizes to the nucleus. It forms heterodimers with E-proteins (e.g., TCF3) and binds to E-box sequences to regulate target genes involved in somite boundary formation and rostrocaudal patterning. The protein is transiently expressed in the presomitic mesoderm and is rapidly downregulated after somite formation. Its activity is tightly controlled by Notch signaling and by the ubiquitin-proteasome system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MESP2 Knockout HEK293 Cell Line | EDJ-KQ1937 | Human | 145873 | Details Get a Quote |
| MESP2 Knockout HeLa Cell Line | EDJ-KQ58530 | Human | 145873 | Details Get a Quote |
| MESP2 Knockout A-549 Cell Line | EDJ-KQ67021 | Human | 145873 | Details Get a Quote |
| MESP2 Knockout HCT 116 Cell Line | EDJ-KQ75421 | Human | 145873 | Details Get a Quote |
