RIPPLY2
Ripply Transcriptional Repressor 2
Gene Information Card
| Symbol | RIPPLY2 |
|---|---|
| Full Name | Ripply Transcriptional Repressor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 134701 ncbi.nlm.nih.gov/gene/134701 |
| Ensembl ID | ENSG00000133019 |
| UniProt ID | Q5JXA9 |
| OMIM ID | 614177 |
| HGNC ID | 21390 |
| Aliases | RIPPLY2, bA364O22.1 |
Description
RIPPLY2 encodes a transcriptional repressor involved in somitogenesis, specifically in the segmentation of the paraxial mesoderm. It acts downstream of the Notch signaling pathway to regulate the cyclic expression of segmentation clock genes. Mutations in RIPPLY2 are associated with autosomal recessive spondylocostal dysostosis type 6.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondylocostal dysostosis 6, autosomal recessive | Loss-of-function mutations impair transcriptional repression of segmentation genes, leading to vertebral and rib malformations. | OMIM #616566; PMID: 25728777 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
| HepG2 | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.2T>C (p.Met1Thr) | Missense | Rare | Loss of start codon, likely loss of function |
| c.3G>A (p.Met1Ile) | Missense | Rare | Loss of start codon, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Mutations causing loss of start codon or premature truncation lead to loss of repressor activity, associated with spondylocostal dysostosis.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • negative regulation of transcription from RNA polymerase II promoter (GO:0000122) | • somitogenesis (GO:0001756) |
| • nucleus (GO:0005634) | • protein binding (GO:0005515) |
Pathways
• Notch signaling pathway (involved in segmentation clock)
• Somite segmentation
Protein Summary
RIPPLY2 is a 244-amino acid nuclear protein containing a Ripply family domain. It functions as a transcriptional repressor by interacting with TLE corepressors and binding to DNA via homeodomain factors. It is transiently expressed in the presomitic mesoderm and plays a critical role in establishing segment boundaries.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIPPLY2 Knockout HEK293 Cell Line | EDJ-KQ9347 | Human | 134701 | Details Get a Quote |
| RIPPLY2 Knockout HeLa Cell Line | EDJ-KQ58343 | Human | 134701 | Details Get a Quote |
| RIPPLY2 Knockout A-549 Cell Line | EDJ-KQ66832 | Human | 134701 | Details Get a Quote |
| RIPPLY2 Knockout HCT 116 Cell Line | EDJ-KQ75235 | Human | 134701 | Details Get a Quote |
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