Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	134701
Gene name Gene Name - the full gene name approved by the HGNC.	Ripply transcriptional repressor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RIPPLY2
Synonyms (NCBI Gene) Gene synonyms aliases	C6orf159, SCDO6, dJ237I15.1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q14.2
Summary Summary of gene provided in NCBI Entrez 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 c

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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

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

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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

MIM	HGNC	e!Ensembl
609891	21390	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

Interactions

View interactions

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Klippel Feil syndrome	Klippel-Feil syndrome 2, autosomal recessive	rs864309489	N/A

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
spondylocostal dysostosis	Spondylocostal dysostosis 2, autosomal recessive	N/A	N/A	ClinVar
Spondylocostal Dysostosis	autosomal recessive spondylocostal dysostosis	N/A	N/A	GenCC

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

RIPPLY2 (ripply transcriptional repressor 2)