RIPPLY2 (ripply transcriptional repressor 2)

Gene

• Entrez ID: 134701
• Gene name: Ripply transcriptional repressor 2
• Gene symbol: RIPPLY2
• Synonyms (NCBI Gene): C6orf159, SCDO6, dJ237I15.1
• Chromosome: 6
• Chromosome location: 6q14.2
• Summary: 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 c

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs201419367	A>T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs370933531	T>G	Likely-benign, pathogenic	Intron variant
rs864309489	T>-	Uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016780	hsa-miR-335-5p	Microarray	18185580

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0001503	Process	Ossification	IEA
GO:0001756	Process	Somitogenesis	IEA
GO:0001756	Process	Somitogenesis	ISS
GO:0005515	Function	Protein binding	IPI	25416956, 27107012, 32296183, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0009798	Process	Axis specification	IEA
GO:0009880	Process	Embryonic pattern specification	IBA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0032525	Process	Somite rostral/caudal axis specification	IEA
GO:0032525	Process	Somite rostral/caudal axis specification	ISS
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0060349	Process	Bone morphogenesis	IEA

Other IDs

• MIM: 609891
• HGNC: 21390
• e!Ensembl: ENSG00000203877

Protein

• UniProt ID: Q5TAB7
• Protein name: Protein ripply2
• Protein function: Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14998	Ripply	36 → 121	Transcription Regulator	Family

• Sequence:

  MENAGGAEGTESGAAACAATDGPTRRAGADSGYAGFWRPWVDAGGKKEEETPNHAAEAMP
  DGPGMTAASGKLYQFRHPVRLFWPKSKCYDYLYQEAEALLKNFPIQATISFYEDSDSEDE
  IEDLTCEN

• Sequence length: 128

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Klippel-Feil syndrome 2, autosomal recessive	Likely pathogenic	rs864309489	RCV000202450

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
RIPPLY2-related disorder	Benign; Conflicting classifications of pathogenicity	rs2298290, rs370933531, rs138853939	RCV003980523 RCV003390955 RCV003913181
Spondylocostal dysostosis 2, autosomal recessive	Conflicting classifications of pathogenicity	rs201419367, rs370933531	RCV002270021 RCV002270022
Spondylocostal dysostosis 6, autosomal recessive	Benign; Conflicting classifications of pathogenicity	rs9353143, rs2298290, rs201419367, rs370933531	RCV001796533 RCV001796535 RCV000207268 RCV000207041

Associations from Text Mining
Disease Name	Relationship Type	References
Dystonic Disorders	Associate	26238661
Endometrial Neoplasms	Associate	33350104
Heterotaxy Syndrome	Associate	26238661
Klippel Feil Syndrome	Associate	26238661, 32278351
Takayasu Arteritis	Associate	27769046