Mesoderm Posterior Basic Helix-Loop-Helix Transcription Factor 2

Alternative Names

  • MESP2
Back to search Result
OMIM Number

605195

NCBI Gene ID

145873

Uniprot ID

Q0VG99

Length

18,164 

No. of Exons

2

No. of isoforms

1

Protein Name

Mesoderm posterior protein 2

Molecular Mass

41760

Amino Acid Count

397

Genomic Location

chr15:89,760,591-89,778,754

Gene Map Locus
15q26.1

Description

MESP2 encodes a transcription factor belonging to the bHLH family and functions in rostrocaudal patterning of somites through notch signaling. MESP2 is expressed in the anterior presomitic, epithelial somitic, and cardiac mesoderms. Pathogenic variants in MESP2 are implicated in autosomal recessive Spondylocostal Dysostosis 2.  

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001039958.2:c.500_503dupLebanon15: 89776857-89776860PathogenicPathogenicSpondylocostal Dysostosis, Autosomal Recessive 2NG_008608.1:g.5500_5503dup ; NM_001039958.2:c.500_503dup ; NP_001035047.1:p.Gly169fs 1139941585183
© CAGS 2024. All rights reserved.