MESP2

Mesoderm posterior 2 homolog (mouse)
Identifiers
Symbols	MESP2; SCDO2; bHLHc6
External IDs	OMIM: 605195 MGI: 1096325 HomoloGene: 7420 GeneCards: MESP2 Gene
Gene Ontology Molecular function • DNA binding • sequence-specific DNA binding transcription factor activity Cellular component • nucleus Biological process • somitogenesis • Notch signaling pathway • multicellular organismal development • mesodermal cell migration • positive regulation of transcription from RNA polymerase II promoter Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	145873	17293
Ensembl	ENSG00000188095	ENSMUSG00000030543
UniProt	Q0VG99	O08574
RefSeq (mRNA)	NM_001039958	NM_008589.2
RefSeq (protein)	NP_001035047	NP_032615.2
Location (UCSC)	Chr 15: 90.32 – 90.32 Mb	Chr 7: 86.96 – 86.96 Mb
PubMed search	[1]	[2]

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.^[1]

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.^[1]

Clinical significance

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

References

1. ^ ^{a b} "Entrez Gene: mesoderm posterior 2 homolog (mouse)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=145873. 
2. ^ Cornier AS, Staehling-Hampton K, Delventhal KM, et al. (June 2008). "Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome". Am. J. Hum. Genet. 82 (6): 1334–41. doi:10.1016/j.ajhg.2008.04.014. PMC 2427230. PMID 18485326. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(08)00274-7. 

Further reading

• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• Whittock NV, Sparrow DB, Wouters MA, et al. (2004). "Mutated MESP2 causes spondylocostal dysostosis in humans.". Am. J. Hum. Genet. 74 (6): 1249–54. doi:10.1086/421053. PMID 15122512. 
• Morimoto M, Kiso M, Sasaki N, Saga Y (2006). "Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis.". Dev. Biol. 300 (2): 687–98. doi:10.1016/j.ydbio.2006.08.043. PMID 16996494. 
• McLellan AS, Langlands K, Kealey T (2002). "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening.". Mech. Dev. 119 Suppl 1: S285-91. doi:10.1016/S0925-4773(03)00130-8. PMID 14516699. 
• Haraguchi S, Kitajima S, Takagi A, et al. (2001). "Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development.". Mech. Dev. 108 (1-2): 59–69. doi:10.1016/S0925-4773(01)00478-6. PMID 11578861. 
• Cornier AS, Staehling-Hampton K, Delventhal KM, et al. (2008). "Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.". Am. J. Hum. Genet. 82 (6): 1334–41. doi:10.1016/j.ajhg.2008.04.014. PMC 2427230. PMID 18485326. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2427230. 

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