Protein-coding gene in the species Homo sapiens
Mesoderm posterior protein 2 (MESP2), also known asclass C basic helix-loop-helix protein 6 (bHLHc6), is aprotein that in humans is encoded by theMESP2 gene .[ 5]
This gene encodes a member of thebHLH family oftranscription factors and plays a key role in defining the rostrocaudal patterning ofsomites via interactions with multipleNotch signaling pathways . This gene is expressed in the anterior presomiticmesoderm 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] [ 6]
Clinical significance [ edit ] Mutations in the MESP2 gene cause autosomal recessiveSpondylocostal dysostosis type 2.[ 7]
^a b c GRCh38: Ensembl release 89: ENSG00000188095 –Ensembl , May 2017^a b c GRCm38: Ensembl release 89: ENSMUSG00000030543 –Ensembl , May 2017^ "Human PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" .National Center for Biotechnology Information, U.S. National Library of Medicine .^a b "Entrez Gene: mesoderm posterior 2 homolog (mouse)" .^ 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) dev.113431:1159– 68.doi :10.1242/dev.113431 (inactive 20 October 2025).PMC 4360180 PMID 25725067 . {{cite journal }}: CS1 maint: DOI inactive as of October 2025 (link )^ 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 . 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 theUnited States National Library of Medicine , which is in thepublic domain .
(1) Basic domains
(1.1) Basic leucine zipper (bZIP )(1.2) Basic helix-loop-helix (bHLH )
Group A Group B Group CPAS Group D Group E Group F
(1.3) bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2.1) Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4)β-Scaffold factors with minor groove contacts
(0) Other transcription factors
