Aliases for RIPPLY3 Gene
Aliases for RIPPLY3 Gene
External Ids for RIPPLY3 Gene
- HGNC: 3047
- Entrez Gene: 53820
- Ensembl: ENSG00000183145
- OMIM: 609892
- UniProtKB: P57055
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 Down Syndrome and 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).
Additional gene information for RIPPLY3 Gene
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RIPPLY3 Gene
Genomics for RIPPLY3 Gene
GeneHancer (GH) Regulatory Elements for RIPPLY3 Gene
Promoters and enhancers for RIPPLY3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around RIPPLY3 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for RIPPLY3 Gene
Genomic Locations for RIPPLY3 Gene
- chr21:37,006,150-37,019,659
- (GRCh38/hg38)
- Size:
- 13,510 bases
- Orientation:
- Plus strand
- chr21:38,378,450-38,391,959
- (GRCh37/hg19)
Genomic View for RIPPLY3 Gene
Genes around RIPPLY3 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 21q22.13 by Ensembl
- 21q22.13 by Entrez Gene
- 21q22.13 by HGNC
RIPPLY3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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.
Protein Expression for RIPPLY3 Gene
Post-translational modifications for RIPPLY3 Gene
Other Protein References for RIPPLY3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for RIPPLY3
- Invitrogen Antibodies for RIPPLY3
- Search GeneTex for Antibodies for RIPPLY3
Protein Products
-
OriGene Purified Proteins for RIPPLY3
- Search Origene for MassSpec and Protein Over-expression Lysates for RIPPLY3
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- Novus Biologicals proteins for RIPPLY3
- Search GeneTex for Proteins for RIPPLY3
No data available for DME Specific Peptides for RIPPLY3 Gene
Domains & Families for RIPPLY3 Gene
Gene Families for RIPPLY3 Gene
- Human Protein Atlas (HPA):
-
- Predicted intracellular proteins
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
P57055UniProtKB/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.
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).
Phenotypes for RIPPLY3 Gene
- MGI mutant phenotypes for RIPPLY3:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for RIPPLY3:
Animal Model Products
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for RIPPLY3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RIPPLY3 gene
- Search ViGene Biosciences for RIPPLY3
CRISPR Products
-
OriGene CRISPR knockouts for RIPPLY3
- Applied Biological Materials CRISPR for RIPPLY3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RIPPLY3
- GenScript: Design CRISPR guide RNA sequences for RIPPLY3
miRNA for RIPPLY3 Gene
- miRTarBase miRNAs that target RIPPLY3
miRNA Products
- Search ViGene Biosciences for RIPPLY3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for RIPPLY3
- Browse OriGene Inhibitory RNA Products For RIPPLY3
-
ViGene Biosciences ready-to-package AAV shRNAs for RIPPLY3 gene
Clone Products
- Sino Biological Human cDNA Clone for RIPPLY3
- VectorBuilder custom plasmid, inducible vectors for RIPPLY3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RIPPLY3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for RIPPLY3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for RIPPLY3
-
ViGene Biosciences adenoviral particle packaged cDNA for RIPPLY3 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for RIPPLY3 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for RIPPLY3 gene
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RIPPLY3 Gene
Localization for RIPPLY3 Gene
Subcellular locations from UniProtKB/Swiss-Prot for RIPPLY3 Gene
- Nucleus.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| cytosol | 2 |
| extracellular | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | NAS,IBA | 10814524 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for RIPPLY3 Gene
Pathways & Interactions for RIPPLY3 Gene
No Data Available
Interacting Proteins for RIPPLY3 Gene
| Symbol | External ID(s) | Details |
|---|---|---|
| TRAF2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | 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 | -- |
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 :
CRISPR Products
-
OriGene CRISPR knockouts for RIPPLY3
- Applied Biological Materials CRISPR for RIPPLY3
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for RIPPLY3
- GenScript: Design CRISPR guide RNA sequences for RIPPLY3
miRNA Products
- Search ViGene Biosciences for RIPPLY3
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for RIPPLY3
- Browse OriGene Inhibitory RNA Products For RIPPLY3
-
ViGene Biosciences ready-to-package AAV shRNAs for RIPPLY3 gene
Clone Products
- Sino Biological Human cDNA Clone for RIPPLY3
- VectorBuilder custom plasmid, inducible vectors for RIPPLY3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RIPPLY3
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Applied Biological Materials Clones for RIPPLY3
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for RIPPLY3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Hematopoietic Stem Cells Hematopoietic Bone Marrow
- Inner Cell Mass (Early Embryonic Tissues)
- Endoderm (Gastrulation Derivatives)
- Neural Tube (Nervous System)
-
Lung (Respiratory System)
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).
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
NURSA nuclear receptor signaling pathways regulating expression of RIPPLY3 Gene:
RIPPLY3mRNA Expression by UniProt/SwissProt for RIPPLY3 Gene:
P57055-DSCR6_HUMAN
Tissue specificity:
Expressed at a low level in fetal kidney and fetal brain.
Evidence on tissue expression from TISSUES for RIPPLY3 Gene
- Nervous system(4.2)
- Eye(4)
Primer Products
-
OriGene qPCR primer pairs for RIPPLY3
Gene Expression Assay Products
No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RIPPLY3 Gene
Orthologs for RIPPLY3 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | DSCR6 33 |
|
||
| RIPPLY3 34 |
|
OneToOne | |||
| dog (Canis familiaris) |
Mammalia | DSCR6 33 |
|
||
| RIPPLY3 34 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | RIPPLY3 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ripply3 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ripply3 33 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | RIPPLY3 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | DSCR6 33 |
|
||
| RIPPLY3 34 |
|
OneToOne | |||
| zebrafish (Danio rerio) |
Actinopterygii | ripply3 34 |
|
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)
Paralogs for RIPPLY3 Gene
Pseudogenes.org Pseudogenes for RIPPLY3 Gene
No data available for Paralogs for RIPPLY3 Gene
Variants for RIPPLY3 Gene
| SNP ID | Clin | Chr 21 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1000014081 | -- | 37,007,504(+) | G/A | intron_variant | |
| rs1000084111 | -- | 37,007,058(+) | C/T | intron_variant | |
| rs1000136494 | -- | 37,006,854(+) | C/T | coding_sequence_variant, intron_variant, missense_variant | |
| rs1000360103 | -- | 37,018,287(+) | C/T | 3_prime_UTR_variant | |
| rs1000374185 | -- | 37,012,212(+) | T/A | intron_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2751929 | CNV | gain | 17911159 |
| esv2763684 | CNV | gain+loss | 21179565 |
| esv3568184 | CNV | loss | 25503493 |
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)
Additional Variant Information for RIPPLY3 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- RIPPLY3
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RIPPLY3 Gene
Disorders for RIPPLY3 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| down syndrome |
|
|
| velocardiofacial syndrome |
|
|
Search RIPPLY3 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for RIPPLY3
No data available for UniProtKB/Swiss-Prot and Genatlas for RIPPLY3 Gene
Publications for RIPPLY3 Gene
- Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. (PMID: 10814524) Shibuya K … Shimizu N (Biochemical and biophysical research communications 2000) 2 3 4 58
- RIPPLY3 is a retinoic acid-inducible repressor required for setting the borders of the pre-placodal ectoderm. (PMID: 22354841) Janesick A … Blumberg B (Development (Cambridge, England) 2012) 2 3 58
- 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) 4 58
- The DNA sequence of human chromosome 21. (PMID: 10830953) Hattori M … Chromosome 21 mapping and sequencing consortium (Nature 2000) 3 58
Products for RIPPLY3 Gene
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- Custom Assay Services
- OriGene Purified Proteins for RIPPLY3
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- Cloud-Clone Corp. primary cells service
- Cyagen custom Knockout/knockin (KOKI) mouse models for RIPPLY3
- VectorBuilder custom plasmid, inducible vectors for RIPPLY3
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for RIPPLY3
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneTex for Antibodies for RIPPLY3
- Search GeneTex for Proteins for RIPPLY3
- ViGene Biosciences adenoviral particle packaged cDNA for RIPPLY3 gene
- ViGene Biosciences lentiviral particle packaged cDNA for RIPPLY3 gene
- ViGene Biosciences ready-to-package AAV shRNAs for RIPPLY3 gene
- Search ViGene Biosciences for RIPPLY3
Sources for RIPPLY3 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems