MESP2 Chromosome 15
Mesoderm posterior bHLH transcription factor 2
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What This Gene Does
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]
Gene Info
Gene Group
Basic helix-loop-helix proteins
Locus Type
gene with protein product
Location
15q26.1
Ensembl
ENSG00000188095
Associated Conditions (4)
Spondylocostal dysostosis 2
autosomal recessive
Inborn genetic diseases
MESP2-related disorder
Key Variants
RS113097169
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS1218757887
Conflicting classifications of pathogenicity
Health Risk
RS370227491
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS374604155
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, Inborn genetic diseases
Health Risk
RS534821207
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, MESP2-related disorder
Health Risk
RS566641514
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, MESP2-related disorder
Health Risk
RS752665246
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS762014488
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS766664800
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS767474985
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS77473319
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, MESP2-related disorder
Health Risk
RS778503063
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2505185716 | Health Risk | Pathogenic | — |
| RS2505185781 | Health Risk | Pathogenic | — |
| RS2505185956 | Health Risk | Pathogenic | — |
| RS2505186262 | Health Risk | Pathogenic | — |
| RS2505187482 | Health Risk | Pathogenic | — |
| RS71647808 | Health Risk | Pathogenic | Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2 |
| RS998865794 | Health Risk | Pathogenic | — |
| RS1555439013 | Health Risk | Pathogenic/Likely pathogenic | Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2 |
| RS538996447 | Health Risk | Pathogenic/Likely pathogenic | Spondylocostal dysostosis 2, autosomal recessive, Spondylocostal dysostosis 2 |