MESP2

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]

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 79,810,727 bp[2] End 79,813,439 bp[2]
Gene ontology Molecular function • DNA binding • protein dimerization activity • GO:0000980 RNA polymerase II cis-regulatory region sequence-specific DNA binding • GO:0001077, GO:0001212, GO:0001213, GO:0001211, GO:0001205 DNA-binding transcription activator activity, RNA polymerase II-specific • GO:0001200, GO:0001133, GO:0001201 DNA-binding transcription factor activity, RNA polymerase II-specific • GO:0001131, GO:0001151, GO:0001130, GO:0001204 DNA-binding transcription factor activity Cellular component • cell nucleus Biological process • Notch signaling pathway • multicellular organism development • regulation of transcription, DNA-templated • transcription, DNA-templated • mesoderm formation • somitogenesis • heart morphogenesis • transcription from RNA polymerase II promoter • embryonic pattern specification • positive regulation of transcription from RNA polymerase II promoter • 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
RefSeq (protein)	NP_001035047	NP_032615
Location (UCSC)	Chr 15: 89.76 – 89.78 Mb	Chr 7: 79.81 – 79.81 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

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

1. GRCh38: Ensembl release 89: ENSG00000188095 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000030543 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. "Entrez Gene: mesoderm posterior 2 homolog (mouse)".
6. 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. PMC 4360180. PMID 25725067.
7. 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 2427230. PMID 18485326.

Further reading

• Whittock NV, Sparrow DB, Wouters MA, Sillence D, Ellard S, Dunwoodie SL, Turnpenny PD (Jun 2004). "Mutated MESP2 causes spondylocostal dysostosis in humans". American Journal of Human Genetics. 74 (6): 1249–54. doi:10.1086/421053. PMC 1182088. PMID 15122512.
• Morimoto M, Kiso M, Sasaki N, Saga Y (Dec 2006). "Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis". Developmental Biology. 300 (2): 687–98. doi:10.1016/j.ydbio.2006.08.043. PMID 16996494.
• McLellan AS, Langlands K, Kealey T (Dec 2002). "Exhaustive identification of human class II basic helix-loop-helix proteins by virtual library screening". Mechanisms of Development. 119 Suppl 1: S285-91. doi:10.1016/S0925-4773(03)00130-8. PMID 14516699. S2CID 5903576.
• Haraguchi S, Kitajima S, Takagi A, Takeda H, Inoue T, Saga Y (Oct 2001). "Transcriptional regulation of Mesp1 and Mesp2 genes: differential usage of enhancers during development". Mechanisms of Development. 108 (1–2): 59–69. doi:10.1016/S0925-4773(01)00478-6. PMID 11578861. S2CID 9238477.
• 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 2427230. PMID 18485326.

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