MESP2

MESP2
Identifiers
Aliases	MESP2, SCDO2, bHLHc6, mesoderm posterior bHLH transcription factor 2
External IDs	OMIM: 605195 MGI: 1096325 HomoloGene: 7420 GeneCards: MESP2
Gene location (Human) Chr. Chromosome 15 (human)[1] Band 15q26.1 Start 89,760,591 bp[1] End 89,778,754 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7 D2|7 45.18 cM Start 79,460,475 bp[2] End 79,463,187 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lower lobe of lung prefrontal cortex palpebral conjunctiva Brodmann area 9 nucleus accumbens cingulate gyrus amygdala stromal cell of endometrium salivary gland superior frontal gyrus Top expressed in secondary oocyte urethra female urethra male urethra spermatocyte morula seminiferous tubule saccule conjunctival fornix lip More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding protein dimerization activity RNA polymerase II cis-regulatory region sequence-specific DNA binding DNA-binding transcription activator activity, RNA polymerase II-specific DNA-binding transcription factor activity, RNA polymerase II-specific DNA-binding transcription factor activity Cellular component nucleus Biological process Notch signaling pathway multicellular organism development regulation of transcription, DNA-templated transcription, DNA-templated mesoderm formation somitogenesis heart morphogenesis transcription by RNA polymerase II embryonic pattern specification positive regulation of transcription by RNA polymerase II regulation of transcription by RNA polymerase II Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 145873 17293 Ensembl ENSG00000188095 ENSMUSG00000030543 UniProt Q0VG99 O08574 RefSeq (mRNA) NM_001039958 NM_008589 RefSeq (protein) NP_001035047 NP_032615 Location (UCSC) Chr 15: 89.76 – 89.78 Mb Chr 7: 79.46 – 79.46 Mb PubMed search [3] [4]
Wikidata
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Mesoderm posterior protein 2 (MESP2), also known as class C basic helix-loop-helix protein 6 (bHLHc6), is a protein that in humans is encoded by the MESP2 gene.^[5]

Function

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.^[5] In zebrafish, the homolog mesp-b is critical for dermomyotome development.^[6]

Clinical significance

Mutations in the MESP2 gene cause autosomal recessive Spondylocostal dysostosis type 2.^[7]

References

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

This article on a gene on human chromosome 15 is a stub. You can help Wikipedia by expanding it.

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