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Aliases for RIPPLY3 Gene

Aliases for RIPPLY3 Gene

  • Ripply Transcriptional Repressor 3 2 3 5
  • Down Syndrome Critical Region Protein 6 3 4
  • Down Syndrome Critical Region Gene 6 2 3
  • DSCR6 3 4
  • Ripply3 Homolog (Zebrafish) 2
  • Protein Ripply3 3
  • Ripply3 Homolog 3

External Ids for RIPPLY3 Gene

Previous HGNC Symbols for RIPPLY3 Gene

  • DSCR6

Previous GeneCards Identifiers for RIPPLY3 Gene

  • GC21P038379

Summaries for RIPPLY3 Gene

GeneCards Summary for RIPPLY3 Gene

RIPPLY3 (Ripply Transcriptional Repressor 3) is a Protein Coding gene. Diseases associated with RIPPLY3 include Velocardiofacial Syndrome.

UniProtKB/Swiss-Prot for RIPPLY3 Gene

  • Acts as a transcriptional corepressor. Negative regulator of the transcriptional activity of TBX1. Plays a role in the development of the pharyngeal apparatus and derivatives (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIPPLY3 Gene

Genomics for RIPPLY3 Gene

Regulatory Elements for RIPPLY3 Gene

Enhancers for RIPPLY3 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
GH21F036976 1.2 FANTOM5 Ensembl ENCODE 12.1 -28.8 -28840 1.4 PKNOX1 ATF1 WRNIP1 ARID4B ZNF121 ZNF143 KLF7 ZNF263 SP3 JUNB HLCS TTC3 MORC3 RIPPLY3 LINC01436 ENSG00000242553 PIGP DYRK1A ENSG00000207416 ENSG00000224790
GH21F037082 0.6 Ensembl 11.5 +77.3 77251 1.6 ELF3 PKNOX1 ATF1 MLX ARID4B ZNF48 RARA CREM THAP11 HMG20B TTC3 PIGP MRPL20P1 HLCS ENSG00000207416 RIPPLY3 DSCR3 GC21M037042
GH21F036705 1 FANTOM5 ENCODE 1.3 -300.2 -300170 1.3 CTCF RNF2 SUZ12 HLF CBX2 MAX CEBPB ZIC2 EZH2 SIM2 RIPPLY3 ENSG00000224269 GC21P036712 GC21P036713 GC21P036714
GH21F037009 0.6 Ensembl ENCODE 0.8 +3.9 3929 1.0 PKNOX1 ATF1 ARID4B DMAP1 ZNF48 ZNF2 ZNF143 ZNF263 SP3 NFYC HLCS MORC3 ENSG00000207416 PIGP TTC3 ENSG00000242553 RIPPLY3 RNU6-696P
GH21F036994 0.4 ENCODE 0.4 -11.5 -11465 0.2 ZBTB33 HLCS PIGP TTC3 MRPL20P1 RIPPLY3
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around RIPPLY3 on UCSC Golden Path with GeneCards custom track

Promoters for RIPPLY3 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001840837 550 1001 ZNF202 E2F1 OSR2 ZBTB48 KLF9 KDM1A FOS ZBTB26 ZBTB20 EZH2

Genomic Location for RIPPLY3 Gene

Chromosome:
21
Start:
37,006,150 bp from pter
End:
37,019,659 bp from pter
Size:
13,510 bases
Orientation:
Plus strand

Genomic View for RIPPLY3 Gene

Genes around RIPPLY3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RIPPLY3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RIPPLY3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RIPPLY3 Gene

Proteins for RIPPLY3 Gene

  • Protein details for RIPPLY3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P57055-DSCR6_HUMAN
    Recommended name:
    Protein ripply3
    Protein Accession:
    P57055

    Protein attributes for RIPPLY3 Gene

    Size:
    190 amino acids
    Molecular mass:
    20368 Da
    Quaternary structure:
    • Interacts with TBX1.

    Alternative splice isoforms for RIPPLY3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RIPPLY3 Gene

Post-translational modifications for RIPPLY3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RIPPLY3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for RIPPLY3 Gene

Domains & Families for RIPPLY3 Gene

Protein Domains for RIPPLY3 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RIPPLY3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P57055

UniProtKB/Swiss-Prot:

DSCR6_HUMAN :
  • The Ripply homology domain and the WRPW motif are both necessary for its transcriptional corepressor activity on the transcription activator TBX1.
  • Belongs to the ripply family.
Domain:
  • The Ripply homology domain and the WRPW motif are both necessary for its transcriptional corepressor activity on the transcription activator TBX1.
  • 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 RIPPLY3: view

No data available for Gene Families for RIPPLY3 Gene

Function for RIPPLY3 Gene

Molecular function for RIPPLY3 Gene

UniProtKB/Swiss-Prot Function:
Acts as a transcriptional corepressor. Negative regulator of the transcriptional activity of TBX1. Plays a role in the development of the pharyngeal apparatus and derivatives (By similarity).
genes like me logo Genes that share phenotypes with RIPPLY3: view

Animal Models for RIPPLY3 Gene

MGI Knock Outs for RIPPLY3:

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for RIPPLY3 Gene

Localization for RIPPLY3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RIPPLY3 Gene

Gene Ontology (GO) - Cellular Components for RIPPLY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus NAS 10814524
genes like me logo Genes that share ontologies with RIPPLY3: view

No data available for Subcellular locations from COMPARTMENTS for RIPPLY3 Gene

Pathways & Interactions for RIPPLY3 Gene

SuperPathways for RIPPLY3 Gene

No Data Available

Interacting Proteins for RIPPLY3 Gene

Gene Ontology (GO) - Biological Process for RIPPLY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
GO:0007507 heart development IEA --
genes like me logo Genes that share ontologies with RIPPLY3: view

No data available for Pathways by source and SIGNOR curated interactions for RIPPLY3 Gene

Transcripts for RIPPLY3 Gene

mRNA/cDNA for RIPPLY3 Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for RIPPLY3 Gene

No ASD Table

Relevant External Links for RIPPLY3 Gene

GeneLoc Exon Structure for
RIPPLY3
ECgene alternative splicing isoforms for
RIPPLY3

Expression for RIPPLY3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RIPPLY3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RIPPLY3 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x5.2), Prostate (x4.7), Bladder (x4.5), and Brain - Caudate (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for RIPPLY3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (53.2) and Platelet (15.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RIPPLY3 Gene



Protein tissue co-expression partners for RIPPLY3 Gene

NURSA nuclear receptor signaling pathways regulating expression of RIPPLY3 Gene:

RIPPLY3

mRNA Expression by UniProt/SwissProt for RIPPLY3 Gene:

P57055-DSCR6_HUMAN
Tissue specificity: Expressed at a low level in fetal kidney and fetal brain.
genes like me logo Genes that share expression patterns with RIPPLY3: view

Primer Products

Orthologs for RIPPLY3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RIPPLY3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DSCR6 34
  • 99.12 (n)
RIPPLY3 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSCR6 34
  • 74.13 (n)
RIPPLY3 35
  • 60 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RIPPLY3 34 35
  • 71.56 (n)
mouse
(Mus musculus)
Mammalia Ripply3 34 16 35
  • 68.28 (n)
rat
(Rattus norvegicus)
Mammalia Ripply3 34
  • 68.04 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RIPPLY3 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSCR6 34
  • 58.67 (n)
RIPPLY3 35
  • 51 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii ripply3 35
  • 37 (a)
OneToOne
Species where no ortholog for RIPPLY3 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 RIPPLY3 Gene

ENSEMBL:
Gene Tree for RIPPLY3 (if available)
TreeFam:
Gene Tree for RIPPLY3 (if available)

Paralogs for RIPPLY3 Gene

Pseudogenes.org Pseudogenes for RIPPLY3 Gene

genes like me logo Genes that share paralogs with RIPPLY3: view

No data available for Paralogs for RIPPLY3 Gene

Variants for RIPPLY3 Gene

Sequence variations from dbSNP and Humsavar for RIPPLY3 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1012939 -- 37,015,034(+) CACca(A/G)tggtt intron-variant
rs10432862 -- 37,007,021(+) GCAAG(C/T)TCCTG intron-variant
rs11088373 -- 37,013,380(+) GGCCG(C/T)GGTAA intron-variant
rs111286880 -- 37,005,487(+) TCCAT(A/C)CACCT upstream-variant-2KB
rs111594121 -- 37,012,147(+) TCCAA(C/T)TGAAC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RIPPLY3 Gene

Variant ID Type Subtype PubMed ID
esv2751929 CNV gain 17911159
esv2763684 CNV gain+loss 21179565
esv3568184 CNV loss 25503493

Variation tolerance for RIPPLY3 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.22; 40.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RIPPLY3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
RIPPLY3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIPPLY3 Gene

Disorders for RIPPLY3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for RIPPLY3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
velocardiofacial syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for RIPPLY3

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RIPPLY3
genes like me logo Genes that share disorders with RIPPLY3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RIPPLY3 Gene

Publications for RIPPLY3 Gene

  1. Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. (PMID: 10814524) Shibuya K. … Shimizu N. (Biochem. Biophys. Res. Commun. 2000) 2 3 4 64
  2. RIPPLY3 is a retinoic acid-inducible repressor required for setting the borders of the pre-placodal ectoderm. (PMID: 22354841) Janesick A. … Blumberg B. (Development 2012) 2 3 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) 4 64
  4. The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M. … Yaspo M.-L. (Nature 2000) 3 64

Products for RIPPLY3 Gene

Sources for RIPPLY3 Gene

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