RIPPLY3
Transcriptional repressor involved in somitogenesis and mesoderm patterning
Gene Information Card
| Symbol | RIPPLY3 |
|---|---|
| Full Name | Ripply transcriptional repressor 3 |
| Gene Type | Protein-coding |
| Chromosomal Location | 21q22.12 |
| NCBI Gene ID | 339511 ncbi.nlm.nih.gov/gene/339511 |
| Ensembl ID | ENSG00000160209 |
| UniProt ID | Q6JVE2 |
| OMIM ID | 614572 |
| HGNC ID | 26508 |
| Aliases | RIPPLY3, Ripply3, Ripply family member 3 |
Description
RIPPLY3 encodes a transcriptional repressor that plays a critical role in somitogenesis and mesoderm segmentation. It is a member of the Ripply family, which interacts with T-box transcription factors to repress gene expression during embryonic development. RIPPLY3 is involved in the formation of somite boundaries and the regulation of paraxial mesoderm differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Scoliosis (idiopathic) | Altered somitogenesis due to RIPPLY3 dysregulation may affect vertebral segmentation | Limited evidence from genetic association studies |
| Congenital vertebral malformations | Disruption of RIPPLY3-mediated repression of Tbx6 leads to abnormal somite formation | Case reports and animal models |
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 | No expression detected |
| HeLa | 0.0 | No expression detected |
| HEK293 | 0.0 | No expression detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon, likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in RIPPLY3 are predicted to disrupt somitogenesis, but no confirmed pathogenic variants are reported in ClinVar.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Somitogenesis (Reactome: R-HSA-9617629)
• Transcriptional regulation by T-box factors (Reactome: R-HSA-9617629)
Protein Summary
RIPPLY3 is a 244-amino-acid protein containing a Ripply domain and a nuclear localization signal. It functions as a transcriptional corepressor by recruiting Groucho/TLE family proteins to T-box transcription factors such as Tbx6, thereby repressing target genes essential for somite boundary formation. The protein is predominantly expressed during early embryonic development in the presomitic mesoderm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RIPPLY3 Knockout HEK293 Cell Line | EDJ-KQ11354 | Human | 53820 | Details Get a Quote |
| RIPPLY3 Knockout A-549 Cell Line | EDJ-KQ39531 | Human | 53820 | Details Get a Quote |
| RIPPLY3 Knockout HeLa Cell Line | EDJ-KQ56377 | Human | 53820 | Details Get a Quote |
| RIPPLY3 Knockout HCT 116 Cell Line | EDJ-KQ73313 | Human | 53820 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
