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MESP2

Chr 15q26.1

mesoderm posterior bHLH transcription factor 2

Aliases:
SCDO2, bHLHc6
MANE:
ENST00000341735.5

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Skeletal dysplasia

    BIALLELIC, autosomal or pseudoautosomal
  • Familial Neural Tube Defects

  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • spondylocostal dysostosis 2, autosomal recessive

    0.71
  • autosomal recessive spondylocostal dysostosis

    0.51
  • spondylocostal dysostosis

    0.37
  • neurodegenerative disease

    0.30
  • spondylocostal dysostosis 1, autosomal recessive

    0.29
  • hereditary disease

    0.19
  • spondylolisthesis

    0.11
  • Familial Scheuermann disease

    0.11
  • Scheuermann disease

    0.11
  • X-linked osteoporosis with fractures

    0.10

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Mesoderm posterior protein 2

Transcription factor with important role in somitogenesis. Defines the rostrocaudal patterning of the somite by participating in distinct Notch pathways. Also regulates the FGF signaling pathway. Specifies the rostral half of the somites. Generates rostro-caudal polarity of somites by down-regulating in the presumptive rostral domain DLL1, a Notch ligand. Participates in the segment border formation by activating in the anterior presomitic mesoderm LFNG, a negative regulator of DLL1-Notch signaling. Acts as a strong suppressor of Notch activity. Together with MESP1 is involved in the epithelialization of somitic mesoderm and in the development of cardiac mesoderm

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.