MESP2 mesoderm posterior bHLH transcription factor 2

Gene ID: 145873, updated on 2-Nov-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Spondylocostal dysostosis MedGen: C0265343GeneReviews: Spondylocostal Dysostosis, Autosomal Recessive	See labs
Spondylocostal dysostosis 1, autosomal recessive MedGen: CN032975OMIM: 277300GeneReviews: Spondylocostal Dysostosis, Autosomal Recessive	See labs
Spondylocostal dysostosis 2, autosomal recessive MedGen: C1837549OMIM: 608681GeneReviews: Spondylocostal Dysostosis, Autosomal Recessive	See labs

Genomic context

Location:: 15q26.1

Sequence:: Chromosome: 15; NC_000015.10 (89776332..89778754)

Total number of exons:: 2

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MESP2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
MESP2 database
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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