RIPPLY2

Protein identityUniProt · HPA

UniProt accession

Q5TAB7

Gene

RIPPLY2

Ensembl

ENSG00000203877

Chromosome

6

Canonical length

128 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

128 residues, UniProt reviewed canonical sequence.

>Q5TAB7|RIPPLY2
     1  MENAGGAEGT ESGAAACAAT DGPTRRAGAD SGYAGFWRPW VDAGGKKEEE TPNHAAEAMP
    61  DGPGMTAASG KLYQFRHPVR LFWPKSKCYD YLYQEAEALL KNFPIQATIS FYEDSDSEDE
   121  IEDLTCEN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against RIPPLY2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.6

Highest tissue expression

32 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about RIPPLY2.

Disease | AllUniProt

Conditions RIPPLY2 is implicated in, by any mechanism.

• Spondylocostal dysostosis 6, autosomal recessive (SCDO6) MIM:616566

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 104 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Klippel-Feil syndrome 2, autosomal recessive

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.26

gnomAD pLI

0.01

gnomAD missense Z

-0.56

DepMap mean gene effect

-0.02

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bone morphogenesis
• determination of left/right symmetry
• embryonic pattern specification
• negative regulation of transcription by RNA polymerase II
• Notch signaling pathway
• ossification
• post-anal tail morphogenesis
• somite rostral/caudal axis specification
• somitogenesis

Cellular components

• nucleus

Protein domainsUniProt · Pfam · InterPro

• Ripply family
• Transcription Regulator

KeywordsUniProt

• Developmental protein
• Dwarfism
• Nucleus