MESP2
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| mesoderm posterior bHLH transcription factor 2 | MIM:605195 | Ensembl:ENSG00000188095 | HGNC:HGNC:29659 | PA142671469 | 15q26.1 |
GO terms in MESP2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0001707 | mesoderm formation |
| BP | IBA | GO:0001756 | somitogenesis |
| BP | IBA | GO:0003007 | heart morphogenesis |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IEA | GO:0007219 | Notch signaling pathway |
| BP | IEA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| CC | IBA | GO:0005634 | nucleus |
| MF | IBA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | ISM | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | NAS | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IBA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IEA | GO:0046983 | protein dimerization activity |
Gene expression in normal tissue: MESP2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MESP2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2406 | Cardiac Progenitor Differentiation |
| wikipathways | WP2854 | Gene regulatory network modelling somitogenesis |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MESP2
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