MESP2 mesoderm posterior bHLH transcription factor 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MESP2provided by HGNC
Official Full Name: mesoderm posterior bHLH transcription factor 2provided by HGNC
Primary source: HGNC:HGNC:29659
See related: Ensembl:ENSG00000188095 MIM:605195; AllianceGenome:HGNC:29659
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SCDO2; bHLHc6
Summary: 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. Mutations in the MESP2 gene cause autosomal recessive spondylocostal dystosis 2 (SCD02). [provided by RefSeq, Oct 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 15q26.1

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	15	NC_000015.10 (89776332..89778754)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	15	NC_060939.1 (87532244..87534642)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	15	NC_000015.9 (90319563..90321985)

Chromosome 15 - NC_000015.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation.
Title: MESP2 variants contribute to conotruncal heart defects by inhibiting cardiac neural crest cell proliferation.
MESP2, HES7 and DUSP6 genes may not be involved in the etiopathogenesis of sporadic and non-syndromic CS in Chinese Han population.
Title: Mutation analysis of MESP2, HES7 and DUSP6 gene exons in patients with congenital scoliosis.
findings suggest a founder-effect mutation in the MESP2 gene as a major cause of the classical Puerto Rican form of spondylothoracic dysostosis/Jarcho-Levin syndrome
Title: Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.
Mesp1 is down-regulated in the later stages of development by increasing levels of Mesp2 in the wild-type embryo.
Title: Cooperative Mesp activity is required for normal somitogenesis along the anterior-posterior axis.
Mutated MESP2 causes spondylocostal dysostosis
Title: Mutated MESP2 causes spondylocostal dysostosis in humans.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Spondylocostal dysostosis MedGen: C0265343 GeneReviews: Spondylocostal Dysostosis, Autosomal Recessive	Compare labs
Spondylocostal dysostosis 1, autosomal recessive MedGen: CN032975 OMIM: 277300 GeneReviews: Spondylocostal Dysostosis, Autosomal Recessive	Compare labs
Spondylocostal dysostosis 2, autosomal recessive MedGen: C1837549 OMIM: 608681 GeneReviews: Spondylocostal Dysostosis, Autosomal Recessive	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:484264

STS-W74095 (e-PCR)
- UniSTS:15312

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in Notch signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in heart morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in mesoderm formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in somite rostral/caudal axis specification	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromatin	ISA Inferred from Sequence Alignment more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: mesoderm posterior protein 2

Names: class C basic helix-loop-helix protein 6; mesoderm posterior 2 homolog; mesoderm posterior basic helix-loop-helix transcription factor 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.