RIPPLY2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
RIPPLY2
Official Name
ripply transcriptional repressor 2 [Source:HGNC Symbol;Acc:HGNC:21390]
Ensembl ID
ENSG00000203877
Bio databases IDs NCBI: 134701 Ensembl: ENSG00000203877
Aliases ripply transcriptional repressor 2
Synonyms C030002E08Rik, C6orf159, dJ237I15.1, Gm1122, RGD1308746, ripply transcriptional repressor 2, SCDO6
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RIPPLY2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • transcription regulator
  • protein binding

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • Klippel-Feil syndrome type 2
  • spondylocostal dysostosis type 6
regulated by
role in cell
  • ossification by

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Nucleus
  • nucleoplasm

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RIPPLY2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • negative regulation of transcription from RNA polymerase II promoter
  • Notch signaling pathway
  • ossification
  • somitogenesis
  • embryonic pattern specification
  • bone morphogenesis
  • somite rostral/caudal axis specification
  • determination of left/right symmetry

Cellular Component

Where in the cell the gene product is active
  • nucleus

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.