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Aliases for RIPPLY2 Gene

Subcategory (RNA class) for RIPPLY2 Gene


Aliases for RIPPLY2 Gene

  • Ripply Transcriptional Repressor 2 2 3 5
  • C6orf159 3 4
  • Chromosome 6 Open Reading Frame 159 2
  • Ripply2 Homolog (Zebrafish) 2
  • Protein Ripply2 3
  • Ripply2 Homolog 3
  • DJ237I15.1 3
  • SCDO6 3

External Ids for RIPPLY2 Gene

ORGUL Members for RIPPLY2 Gene

Previous HGNC Symbols for RIPPLY2 Gene

  • C6orf159

Previous GeneCards Identifiers for RIPPLY2 Gene

  • GC06M161503
  • GC06P084620
  • GC06P084621
  • GC06P084562
  • GC06P081792

Summaries for RIPPLY2 Gene

Entrez Gene Summary for RIPPLY2 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]

GeneCards Summary for RIPPLY2 Gene

RIPPLY2 (Ripply Transcriptional Repressor 2) is a Protein Coding gene, and is affiliated with the lncRNA class. Diseases associated with RIPPLY2 include Spondylocostal Dysostosis 6, Autosomal Recessive and Spondylocostal Dysostosis, Autosomal Recessive. Among its related pathways are Gene regulatory network modelling somitogenesis. An important paralog of this gene is RIPPLY1.

UniProtKB/Swiss-Prot for RIPPLY2 Gene

  • Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity).

Additional gene information for RIPPLY2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIPPLY2 Gene

Genomics for RIPPLY2 Gene

GeneHancer (GH) Regulatory Elements for RIPPLY2 Gene

Promoters and enhancers for RIPPLY2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I083853 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 577.9 +0.4 409 1.3 PKNOX1 SIN3A FEZF1 GLI4 ZNF2 GLIS2 KLF7 ZNF202 SP3 REST RIPPLY2 GC06M083852 CEP162 DOPEY1
GH06I084226 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.2 +374.3 374335 2 PKNOX1 CLOCK ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF213 CEP162 RIPPLY2 GC06P084130
GH06I083859 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 11.3 +6.9 6863 2.3 MLX ZFP64 DMAP1 YBX1 IRF4 SLC30A9 E2F8 ZNF143 SP3 NFYC CYB5R4 CEP162 RIPPLY2 PIR41363
GH06I083824 Enhancer 0.6 ENCODE 35.5 -28.8 -28799 0.2 ZNF792 ZNF189 GFI1B INSM2 ZNF501 ZIC2 ZSCAN21 GLIS1 ZNF629 ZSCAN5C RIPPLY2 SNAP91 ENSG00000237874
GH06I083974 Enhancer 1 ENCODE 10.9 +122.9 122896 3.7 SMAD1 ARNT ZNF766 CBX5 E2F8 FOS REST ZNF592 MEF2D SMARCA4 RIPPLY2 ENSG00000228679 GC06P083900
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around RIPPLY2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the RIPPLY2 gene promoter:

Genomic Locations for RIPPLY2 Gene

Genomic Locations for RIPPLY2 Gene
4,250 bases
Plus strand

Genomic View for RIPPLY2 Gene

Genes around RIPPLY2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIPPLY2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIPPLY2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIPPLY2 Gene

Proteins for RIPPLY2 Gene

  • Protein details for RIPPLY2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein ripply2
    Protein Accession:
    Secondary Accessions:
    • Q5TAB6

    Protein attributes for RIPPLY2 Gene

    128 amino acids
    Molecular mass:
    13906 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for RIPPLY2 Gene


neXtProt entry for RIPPLY2 Gene

Post-translational modifications for RIPPLY2 Gene

No Post-translational modifications

Other Protein References for RIPPLY2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RIPPLY2 Gene

Domains & Families for RIPPLY2 Gene

Gene Families for RIPPLY2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RIPPLY2 Gene


Suggested Antigen Peptide Sequences for RIPPLY2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • The ripply homology domain is required for transcriptional repression.
  • Belongs to the ripply family.
  • The ripply homology domain is required for transcriptional repression.
  • The WRPW motif is required for binding to tle/groucho proteins.
  • Belongs to the ripply family.
genes like me logo Genes that share domains with RIPPLY2: view

Function for RIPPLY2 Gene

Molecular function for RIPPLY2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in somitogenesis. Required for somite segregation and establishment of rostrocaudal polarity in somites (By similarity).

Gene Ontology (GO) - Molecular Function for RIPPLY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with RIPPLY2: view
genes like me logo Genes that share phenotypes with RIPPLY2: view

Human Phenotype Ontology for RIPPLY2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RIPPLY2 Gene

MGI Knock Outs for RIPPLY2:

miRNA for RIPPLY2 Gene

miRTarBase miRNAs that target RIPPLY2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for RIPPLY2 Gene

Localization for RIPPLY2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIPPLY2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RIPPLY2 gene
Compartment Confidence
nucleus 5
extracellular 3
cytosol 1

Gene Ontology (GO) - Cellular Components for RIPPLY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA,ISS --
genes like me logo Genes that share ontologies with RIPPLY2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RIPPLY2 Gene

Pathways & Interactions for RIPPLY2 Gene

genes like me logo Genes that share pathways with RIPPLY2: view

Pathways by source for RIPPLY2 Gene

1 BioSystems pathway for RIPPLY2 Gene

Gene Ontology (GO) - Biological Process for RIPPLY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IBA --
GO:0001503 ossification IEA --
GO:0001756 somitogenesis ISS --
GO:0007219 Notch signaling pathway IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with RIPPLY2: view

No data available for SIGNOR curated interactions for RIPPLY2 Gene

Drugs & Compounds for RIPPLY2 Gene

No Compound Related Data Available

Transcripts for RIPPLY2 Gene

mRNA/cDNA for RIPPLY2 Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(14) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for RIPPLY2 Gene

Ripply2 homolog (zebrafish):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIPPLY2 Gene

No ASD Table

Relevant External Links for RIPPLY2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for RIPPLY2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for RIPPLY2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RIPPLY2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x5.4), Brain - Nucleus accumbens (basal ganglia) (x4.4), Brain - Cerebellum (x4.3), Brain - Putamen (basal ganglia) (x4.1), and Brain - Frontal Cortex (BA9) (x4.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RIPPLY2 Gene

NURSA nuclear receptor signaling pathways regulating expression of RIPPLY2 Gene:


SOURCE GeneReport for Unigene cluster for RIPPLY2 Gene:


Phenotype-based relationships between genes and organs from Gene ORGANizer for RIPPLY2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
Head and neck:
  • brain
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • skull
  • tooth
  • chest wall
  • lung
  • rib
  • rib cage
  • sternum
  • pelvis
  • digit
  • finger
  • hand
  • upper limb
  • blood vessel
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with RIPPLY2: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for RIPPLY2 Gene

Orthologs for RIPPLY2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RIPPLY2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia RIPPLY2 33 34
  • 98.96 (n)
(Bos Taurus)
Mammalia LOC781965 33
  • 82.87 (n)
  • 54 (a)
(Mus musculus)
Mammalia Ripply2 33 16 34
  • 73.11 (n)
(Rattus norvegicus)
Mammalia Ripply2 33
  • 71.15 (n)
(Canis familiaris)
Mammalia RIPPLY2 34
  • 66 (a)
(Gallus gallus)
Aves RIPPLY2 34
  • 44 (a)
(Anolis carolinensis)
Reptilia RIPPLY2 34
  • 36 (a)
(Danio rerio)
Actinopterygii ripply2 34
  • 38 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 19 (a)
Species where no ortholog for RIPPLY2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RIPPLY2 Gene

Gene Tree for RIPPLY2 (if available)
Gene Tree for RIPPLY2 (if available)

Paralogs for RIPPLY2 Gene

Paralogs for RIPPLY2 Gene

(1) SIMAP similar genes for RIPPLY2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with RIPPLY2: view

Variants for RIPPLY2 Gene

Sequence variations from dbSNP and Humsavar for RIPPLY2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs201419367 pathogenic, uncertain-significance, Spondylocostal dysostosis 6, autosomal recessive, not specified 83,854,160(+) A/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs370933531 pathogenic, Spondylocostal dysostosis 6, autosomal recessive 83,857,238(+) T/G intron_variant
rs864309489 likely-pathogenic, uncertain-significance, Klippel-Feil syndrome 2, autosomal recessive, not provided 83,857,301(+) T/ coding_sequence_variant, frameshift, non_coding_transcript_variant
rs1000510704 -- 83,855,215(+) C/A/G intron_variant
rs1000870904 -- 83,852,271(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for RIPPLY2 Gene

Variant ID Type Subtype PubMed ID
nsv830718 CNV gain+loss 17160897
nsv1153488 OTHER inversion 26484159
nsv1068710 OTHER inversion 25765185
nsv1025798 CNV gain 25217958

Variation tolerance for RIPPLY2 Gene

Residual Variation Intolerance Score: 52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.22; 4.83% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RIPPLY2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIPPLY2 Gene

Disorders for RIPPLY2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for RIPPLY2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Spondylocostal dysostosis 6, autosomal recessive (SCDO6) [MIM:616566]: A form of spondylocostal dysostosis, a condition of variable severity associated with vertebral and rib segmentation defects. The main skeletal malformations include fusion of vertebrae, hemivertebrae, fusion of certain ribs, and other rib malformations. Deformity of the chest and spine (severe scoliosis, kyphoscoliosis and lordosis) is a natural consequence of the malformation and leads to a dwarf-like appearance. As the thorax is small, infants frequently have respiratory insufficiency and repeated respiratory infections resulting in life-threatening complications in the first year of life. {ECO:0000269 PubMed:25343988}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RIPPLY2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RIPPLY2: view

No data available for Genatlas for RIPPLY2 Gene

Publications for RIPPLY2 Gene

  1. Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. (PMID: 25343988) McInerney-Leo AM … Duncan EL (Human molecular genetics 2015) 3 4 58
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 44 58
  3. Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites. (PMID: 16326386) Kawamura A … Takada S (Developmental cell 2005) 3 4 58
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  5. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N … Roth FP (Molecular systems biology 2016) 3 58

Products for RIPPLY2 Gene

Sources for RIPPLY2 Gene

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