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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Klippel-Feil syndrome 2, autosomal recessive	Likely pathogenic	rs864309489	RCV000202450	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JARCHO-LEVIN SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL FEIL SYNDROME RECESSIVE TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RIPPLY2-related disorder	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylocostal dysostosis 2, autosomal recessive	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylocostal dysostosis 6, autosomal recessive	Benign; Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia, Sickle Cell	Anemia	BEFREE	29681102		★☆☆☆☆ Found in Text Mining only
Autosomal recessive spondylocostal dysostosis	Spondylocostal Dysostosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital meningocele	Congenital Meningocele	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Defect of vertebral segmentation	Abnormal spinal segmentation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dextrocardia with situs inversus	Dextrocardia	CLINVAR_DG	25343988, 26238661		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	26238661	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	33350104	Associate	★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	26238661	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jarcho-Levin syndrome	Jarcho-Levin Syndrome	ORPHANET_DG	25343988		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jarcho-Levin syndrome	Jarcho-Levin Syndrome	BEFREE	30420309		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel Feil syndrome recessive type	Klippel Feil syndrome	CLINVAR_DG	25343988, 26238661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel Feil syndrome recessive type	Klippel Feil syndrome	BEFREE	26238661		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Venous Return Anomaly	Pulmonary Venous Return Anomaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal carnitine transport defect	Renal Carnitine Transport Defect	BEFREE	29681102		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Situs ambiguus	Situs ambiguus	BEFREE	26238661		★☆☆☆☆ Found in Text Mining only
Spina Bifida Occulta	Spina bifida occulta	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE	Spondylocostal Dysostosis	GENOMICS_ENGLAND_DG	25343988		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 2	Spondylocostal Dysostosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3	Spondylocostal Dysostosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	BEFREE	27769046		★☆☆☆☆ Found in Text Mining only