MESP2 (original) (raw)

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Protein-coding gene in the species Homo sapiens

MESP2
Identifiers
Aliases	MESP2, SCDO2, bHLHc6, mesoderm posterior bHLH transcription factor 2
External IDs	OMIM: 605195; MGI: 1096325; HomoloGene: 7420; GeneCards: MESP2; OMA:MESP2 - orthologs
Gene location (Human)Chr.Chromosome 15 (human)[1]Band15q26.1Start89,760,591 bp[1]End89,778,754 bp[1]
Gene location (Mouse)Chr.Chromosome 7 (mouse)[2]Band7 D2|7 45.18 cMStart79,460,475 bp[2]End79,463,187 bp[2]
RNA expression patternBgeeHuman Mouse (ortholog)Top expressed ingonadtesticlebuccal mucosa celllower lobe of lungmucosa of transverse colonskin of thighprefrontal cortexpalpebral conjunctivaBrodmann area 9nucleus accumbensTop expressed inzygotesecondary oocyteprimary oocyteurethrafemale urethramale urethraembryospermatocyteembryomorulaMore reference expression dataBioGPSn/a
Gene ontologyMolecular 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
OrthologsSpeciesHuman MouseEntrez14587317293EnsemblENSG00000188095ENSMUSG00000030543UniProtQ0VG99O08574RefSeq (mRNA)NM_001039958NM_008589RefSeq (protein)NP_001035047NP_032615Location (UCSC)Chr 15: 89.76 – 89.78 MbChr 7: 79.46 – 79.46 MbPubMed search[3][4]
Wikidata
View/Edit HumanView/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.[5]

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

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

1. ^ a b c GRCh38: Ensembl release 89: ENSG00000188095 – Ensembl, May 2017
2. ^ a b c 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. ^ a b "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.

• 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.