RIPPLY2 (ripply transcriptional repressor 2)

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCDO6
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
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 miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT016780 hsa-miR-335-5p Microarray 18185580
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IBA 21873635
GO:0001503 Process Ossification IEA
GO:0001756 Process Somitogenesis ISS
GO:0005515 Function Protein binding IPI 25416956, 27107012, 32296183, 32814053
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609891 21390 ENSG00000203877
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Sequence length 128
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (9)
Causal
Disease term Disease name dbSNP ID References
Congenital diaphragmatic hernia Congenital diaphragmatic hernia rs121908602, rs121908604, rs864309713, rs775394591
Cryptorchidism Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886
Dextrocardia Dextrocardia with situs inversus rs1555672928 26238661, 25343988
Klippel feil syndrome Klippel Feil syndrome recessive type rs1567750527, rs772798486, rs713993044, rs864309489, rs1569172839 26238661, 25343988
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Spondylocostal Dysostosis autosomal recessive spondylocostal dysostosis GenCC
Show/Hide Text Mining Associations (5)
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