MESP2

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MESP2
Identifiers
Aliases MESP2, SCDO2, bHLHc6, mesoderm posterior bHLH transcription factor 2
External IDs MGI: 1096325 HomoloGene: 7420 GeneCards: 145873
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001039958

NM_008589

RefSeq (protein)

NP_001035047.1

NP_032615.2

Location (UCSC) Chr 15: 89.76 – 89.78 Mb Chr 7: 79.81 – 79.81 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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.[3]

Function[edit]

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.[3] In zebrafish, the homolog mesp-b is critical for dermomyotome development.[4]

Clinical significance[edit]

Mutations in the MESP2 gene cause autosomal recessive Spondylocostal dysostosis type 2.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: mesoderm posterior 2 homolog (mouse)". 
  4. ^ Windner SE, Doris RA, Ferguson CM, Nelson AC, Valentin G, Tan H, Oates AC, Wardle FC, Devoto SH (Mar 2015). "Tbx6, Mesp-b and Ripply1 regulate the onset of skeletal myogenesis in zebrafish". Development. 142 (6): 1159–68. doi:10.1242/dev.113431. PMID 25725067. 
  5. ^ Cornier AS, Staehling-Hampton K, Delventhal KM, Saga Y, Caubet JF, Sasaki N, Ellard S, Young E, Ramirez N, Carlo SE, Torres J, Emans JB, Turnpenny PD, Pourquié O (Jun 2008). "Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome". American Journal of Human Genetics. 82 (6): 1334–41. doi:10.1016/j.ajhg.2008.04.014. PMC 2427230free to read. PMID 18485326. 

Further reading[edit]

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