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Aliases for RIPPLY2 Gene

Subcategory (RNA class) for RIPPLY2 Gene

lncRNA

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 and Spondylocostal Dysostosis, Autosomal Recessive. 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).

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

Genomics for RIPPLY2 Gene

Regulatory Elements for RIPPLY2 Gene

Enhancers for RIPPLY2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F083824 0.5 ENCODE 35.4 -28.8 -28800 0.2 ZNF263 ZNF792 GFI1B INSM2 ZNF501 ZIC2 GLIS1 ZNF24 PRDM1 TRIM28 RIPPLY2 SNAP91 ENSG00000237874
GH06F083853 0.6 ENCODE 27.9 +0.4 391 1.0 PKNOX1 FEZF1 GLI4 ZNF2 GLIS2 KLF7 ZNF202 ZNF263 SP3 REST RIPPLY2 CEP162 GC06M083852
GH06F083859 0.7 ENCODE 19.3 +6.9 6865 2.3 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A YBX1 DMAP1 ZNF2 RIPPLY2 CEP162 CYB5R4 PIR41363
GH06F083873 0.4 Ensembl 18.9 +20.5 20535 0.4 RIPPLY2 CEP162 PIR41363 GC06P083900
GH06F084227 0.5 ENCODE 12.1 +374.5 374484 1.5 PKNOX1 CREB3L1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF207 ZNF143 FOS CEP162 RIPPLY2 GC06P084130
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RIPPLY2 on UCSC Golden Path with GeneCards custom track

Promoters for RIPPLY2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001882622 234 201 INSM2 ZNF76 KLF17 FEZF1 GLI4 ZNF2 GLIS2 ZNF366 KLF7 ZNF391

Genomic Location for RIPPLY2 Gene

Chromosome:
6
Start:
83,853,266 bp from pter
End:
83,857,515 bp from pter
Size:
4,250 bases
Orientation:
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:
    Q5TAB7-RIPP2_HUMAN
    Recommended name:
    Protein ripply2
    Protein Accession:
    Q5TAB7
    Secondary Accessions:
    • Q5TAB6

    Protein attributes for RIPPLY2 Gene

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

    Alternative splice isoforms for RIPPLY2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIPPLY2 Gene

Post-translational modifications for RIPPLY2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Protein Domains for RIPPLY2 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RIPPLY2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5TAB7

UniProtKB/Swiss-Prot:

RIPP2_HUMAN :
  • The ripply homology domain is required for transcriptional repression.
  • Belongs to the ripply family.
Domain:
  • The ripply homology domain is required for transcriptional repression.
  • The WRPW motif is required for binding to tle/groucho proteins.
Family:
  • Belongs to the ripply family.
genes like me logo Genes that share domains with RIPPLY2: view

No data available for Gene Families for RIPPLY2 Gene

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:

Animal Model Products

miRNA for RIPPLY2 Gene

miRTarBase miRNAs that target RIPPLY2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , 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

COMPARTMENTS
Jensen Localization Image for RIPPLY2 Gene 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 ISS,IBA --
genes like me logo Genes that share ontologies with RIPPLY2: view

Pathways & Interactions for RIPPLY2 Gene

SuperPathways for RIPPLY2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for RIPPLY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter 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 Pathways by source and SIGNOR curated interactions for RIPPLY2 Gene

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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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

No ASD Table

Relevant External Links for RIPPLY2 Gene

GeneLoc Exon Structure for
RIPPLY2
ECgene alternative splicing isoforms for
RIPPLY2

Expression for RIPPLY2 Gene

mRNA expression in normal human tissues 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:

RIPPLY2

SOURCE GeneReport for Unigene cluster for RIPPLY2 Gene:

Hs.149454
genes like me logo Genes that share expression patterns with RIPPLY2: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia RIPPLY2 34 35
  • 98.96 (n)
cow
(Bos Taurus)
Mammalia LOC781965 34
  • 82.87 (n)
RIPPLY2 35
  • 54 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ripply2 34 16 35
  • 73.11 (n)
rat
(Rattus norvegicus)
Mammalia Ripply2 34
  • 71.15 (n)
dog
(Canis familiaris)
Mammalia RIPPLY2 35
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves RIPPLY2 35
  • 44 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RIPPLY2 35
  • 36 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ripply2 35
  • 38 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 19 (a)
OneToMany
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

ENSEMBL:
Gene Tree for RIPPLY2 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs201419367 Pathogenic 83,854,160(+) CAGTC(A/T)GGTGA nc-transcript-variant, reference, stop-gained
rs370933531 Pathogenic 83,857,238(+) TTCTT(G/T)CAGAC intron-variant
rs864309489 Likely pathogenic 83,857,301(+) TCTTC(-/T)GAAAA nc-transcript-variant, reference, frameshift-variant
rs111562590 -- 83,854,385(+) CTTGA(A/T)GAATA intron-variant
rs112393848 -- 83,853,699(+) GATAC(A/G)CAGGC nc-transcript-variant, reference, missense

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

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

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)

Relevant External Links for RIPPLY2 Gene

Human Gene Mutation Database (HGMD)
RIPPLY2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIPPLY2

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

Disorders for RIPPLY2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for RIPPLY2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
spondylocostal dysostosis 6
  • scdo6
spondylocostal dysostosis, autosomal recessive
  • costovertebral dysplasia
ripply2-related spondylocostal dysostosis, autosomal recessive
  • spondylocostal dysostosis 6
klippel-feil syndrome
  • autosomal dominant klippel-feil syndrome
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

RIPP2_HUMAN
  • 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.

Relevant External Links for RIPPLY2

Genetic Association Database (GAD)
RIPPLY2
Human Genome Epidemiology (HuGE) Navigator
RIPPLY2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIPPLY2
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 A.M. … Duncan E.L. (Hum. Mol. Genet. 2015) 3 4 64
  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 S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  3. Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites. (PMID: 16326386) Kawamura A. … Takada S. (Dev. Cell 2005) 3 4 64
  4. Pooled-matrix protein interaction screens using Barcode Fusion Genetics. (PMID: 27107012) Yachie N. … Roth F.P. (Mol. Syst. Biol. 2016) 3 64
  5. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. (PMID: 26238661) Karaca E. … Lupski J.R. (Am. J. Med. Genet. A 2015) 3 64

Products for RIPPLY2 Gene

Sources for RIPPLY2 Gene

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