RIPPLY2 Chromosome 6
Ripply transcriptional repressor 2
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What This Gene Does
This gene encodes a nuclear protein that belongs to a novel family of proteins required for vertebrate somitogenesis. Members of this family have a tetrapeptide WRPW motif that is required for interaction with the transcriptional repressor Groucho and a carboxy-terminal Ripply homology domain/Bowline-DSCR-Ledgerline conserved region required for transcriptional repression. Null mutant mice die soon after birth and display defects in axial skeleton segmentation due to defective somitogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Associated Conditions (5)
Spondylocostal dysostosis 6
autosomal recessive
Spondylocostal dysostosis 2
RIPPLY2-related disorder
Klippel-Feil syndrome 2
Key Variants
RS201419367
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 6, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS370933531
Conflicting classifications of pathogenicity
Spondylocostal dysostosis 6, autosomal recessive, Spondylocostal dysostosis 2
Health Risk
RS864309489
Likely pathogenic
Klippel-Feil syndrome 2, autosomal recessive, Klippel-Feil syndrome 2
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201419367 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 6, autosomal recessive, Spondylocostal dysostosis 2 |
| RS370933531 | Health Risk | Conflicting classifications of pathogenicity | Spondylocostal dysostosis 6, autosomal recessive, Spondylocostal dysostosis 2 |
| RS864309489 | Health Risk | Likely pathogenic | Klippel-Feil syndrome 2, autosomal recessive, Klippel-Feil syndrome 2 |