MESP2 Gene Summary [Human]
This gene encodes a member of the bHLH family of transcription factors and plays a key role in defining the rostrocaudal patterning of somites via interactions with multiple Notch signaling pathways. This gene is expressed in the anterior presomitic mesoderm and is downregulated immediately after the formation of segmented somites. This gene also plays a role in the formation of epithelial somitic mesoderm and cardiac mesoderm. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]
Details
| Type | Protein Coding |
| Official Symbol | MESP2 |
| Official Name | mesoderm posterior bHLH transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:29659] |
| Ensembl ID | ENSG00000188095 |
| Bio databases IDs | |
| Aliases | mesoderm posterior bHLH transcription factor 2 |
| Synonyms | bHLHc6, mesoderm posterior 2, mesoderm posterior bHLH transcription factor 2, SCDO2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MESP2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription regulatory region sequence-specific binding transcriptional activator activity
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- transcription regulator
- nucleic acid binding
- double-stranded DNA binding
- basic Helix Loop Helix (bHLH) domain superfamily
- helix loop helix domain
- Helix-loop-helix DNA-binding domain
- sequence-specific DNA binding
- transcription factor activity
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- spondylocostal dysostosis type 2
- coronary aneurysm
- gastroparesis
- spina bifida
- juvenile rheumatoid arthritis
role in cell
- expression in
- differentiation
- migration
- outgrowth
- specification
- epithelial-mesenchymal transition
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- nucleoplasm
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MESP2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- heart morphogenesis
- Notch signaling pathway
- mesoderm formation
- somite rostral/caudal axis specification
- regulation of transcription from RNA polymerase II promoter
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- protein dimerization activity
- sequence-specific DNA binding RNA polymerase II transcription factor activity