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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

DSCR6 Gene

protein-coding   GIFtS: 41
GCID: GC21P038378

Down syndrome critical region gene 6
 Explore 2 diseases affiliated with
DSCR6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DSCR6    

Aliases
for DSCR6 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Down Syndrome Critical Region Gene 61 2
RIPPLY32 3 5
Down Syndrome Critical Region Protein 62 3
Protein Ripply32

External Ids:    HGNC: 30471   Entrez Gene: 538202   Ensembl: ENSG000001831457   OMIM: 6098925   UniProtKB: P570553   

Export aliases for DSCR6 gene to outside databases

Previous GC identifers: GC21P034956 GC21P037298 GC21P037299 GC21P037300 GC21P023854


Summaries
for DSCR6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
  --

Genomic Views
for DSCR6 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000021.8  NC_018932.1  NT_011512.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DSCR6 gene promoter:
         Sox5   MAZR   FOXF2   NF-kappaB   E4BP4   HNF-4alpha1   FOXJ2 (long isoform)   FOXJ2   Pax-4a   NF-kappaB1   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for DSCR6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSCR6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.2   Ensembl cytogenetic band:  21q22.13   HGNC cytogenetic band: 21q22.2

DSCR6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSCR6 gene location

GeneLoc information about chromosome 21         GeneLoc Exon Structure

GeneLoc location for GC21P038378:  view genomic region     (about GC identifiers)

Start:
 38,378,450 bp from pter      End:
 38,391,959 bp from pter
Size:
 13,510 bases      Orientation:
 plus strand

Proteins
for DSCR6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DSCR6_HUMAN, P57055 (See protein sequence)
Recommended Name: Protein ripply3  
Size: 190 amino acids; 20368 Da
Subcellular location: Nucleus (By similarity)
Alternative splicing: 2 isoforms:  P57055-1   P57055-2   

Explore the universe of human proteins at neXtProt for DSCR6: NX_P57055

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P57055

    • DSCR6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_061835.1  
    ENSEMBL proteins: 
     ENSP00000331734  

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    Uscn Proteins for DSCR6

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS10814524


    DSCR6 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for DSCR6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ProtoNet protein and cluster: P57055

    UniProtKB/Swiss-Prot: DSCR6_HUMAN, P57055
    Domain: The ripply homology domain is required for transcriptional repression (By similarity)
    Domain: The WRPW motif is required for binding to tle/groucho proteins (By similarity)
    Similarity: Belongs to the ripply family


    Function
    for DSCR6 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    miRNA
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    Animal Models:
         9 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Ripply3):
     cardiovascular system  cellular  craniofacial  embryogenesis  endocrine/exocrine gland 
     hematopoietic system  homeostasis/metabolism  immune system  mortality/aging 

    DSCR6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for DSCR6 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DSCR6

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IEA--
    GO:0007507heart development IEA--
    GO:0008150biological_process ND--
    GO:0060037pharyngeal system development IEA--


    DSCR6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for DSCR6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for DSCR6
    Search CenterWatch for drugs/clinical trials and news about DSCR6 

    Transcripts
    for DSCR6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for DSCR6 gene: 
    NM_018962.2  

    Unigene Cluster for DSCR6:

    Down syndrome critical region gene 6
    Hs.254560  [show with all ESTs]
    Unigene Representative Sequence: AB037158
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000485272(uc011aec.2 uc010gnd.3) ENST00000490393 ENST00000329553(uc002yvv.3)


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    hsa-miR-498 hsa-miR-485-3p hsa-miR-7 hsa-miR-1297 hsa-miR-221* hsa-miR-26a hsa-miR-205* hsa-miR-590-3p
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    Additional cDNA sequence: 

    AB037158.1 AB037159.1 AB037160.1 AB037161.1 

    2 DOTS entries:

    DT.92417195  DT.92417194 

    8 AceView cDNA sequences:

    AW664559 AB037160 AB037159 NM_018962 AB037158 AI688564 AW270732 AB037161 

    GeneLoc Exon Structure


    Expression
    for DSCR6 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    DSCR6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGGTGTCTTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DSCR6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Blimp1- mVenus and stella-ECFP genetically modified stem cells (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Definitive endoderm-like cells (Generation of mesend...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See DSCR6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for DSCR6

    SOURCE GeneReport for Unigene cluster: Hs.254560

    UniProtKB/Swiss-Prot: DSCR6_HUMAN, P57055
    Tissue specificity: Expressed at a low level in fetal kidney and fetal brain

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    In Situ
    Assay Products:     
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    Orthologs
    for DSCR6 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for DSCR6 gene from 1/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    zebrafish
    (Danio rerio)    		 Actinopterygii ripply36
    		 ripply3
    		 34(a)
    		 1 ↔ 1
    		 10(162944-166288)


    ENSEMBL Gene Tree for DSCR6 (if available)
    TreeFam Gene Tree for DSCR6 (if available) 

    Paralogs
    for DSCR6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DSCR6 gene
    RIPPLY22  RIPPLY12  

    DSCR6 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for DSCR6
    PGOHUM00000247774


    Genomic Variants
    for DSCR6 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/294 NCBI SNPs in DSCR6 are shown (see all 294)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 21 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1845290271,2
    		--38377004(+) CACCGC/TGCCCT 1 -- us2k10--------
    rs1890091781,2
    		--38377059(+) TGGTAA/CCTTAT 1 -- us2k10--------
    rs16218351,2
    		C,H--38377108(+) TAGCCT/GCCTCC 1 -- us2k16Minor allele frequency- G:0.00NS EA NA 422
    rs2018054031,2
    		--38377219(+) TCTTC-/GGATTT 1 -- us2k10--------
    rs771671751,2
    		C,--38377221(+) CTTCGA/GTTTTT 1 -- us2k12Minor allele frequency- G:0.19WA 120
    rs1418887711,2
    		--38377247(+) TTGAGA/GCAGAG 1 -- us2k10--------
    rs1462664191,2
    		--38377320(+) CTCCCA/GAGTTC 1 -- us2k10--------
    rs1149327081,2
    		F,--38377412(+) TCTTAG/ATGGAT 1 -- us2k11Minor allele frequency- A:0.05WA 118
    rs1130514161,2
    		--38377454(+) TCAAAC/TTCCCG 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs28458301,2
    		C,F,A,H,--38377507(+) ATTACA/GGGCAT 1 -- us2k16Minor allele frequency- G:0.42NA WA CSA 12

    HapMap Linkage Disequilibrium report for DSCR6 (38378450 - 38391959 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for DSCR6
         1 CNV: 8895

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    Disorders / Diseases
    for DSCR6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    DSCR6 for disorders           About GeneDecksing

    OMIM gene information: 609892    OMIM disorders: --

    2 diseases for DSCR6:    About MalaCards
    down syndrome critical region    down syndrome

    1 disease from the University of Copenhagen DISEASES database for DSCR6:
    Down syndrome

    Export disorders for DSCR6 gene to outside databases

    Publications
    for DSCR6 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for DSCR6 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with DSCR6)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Isolation of two novel genes, DSCR5 and DSCR6, from Down syndrome critical region on human chromosome 21q22.2. (PubMed id 10814524)1, 2, 3 Shibuya K....Shimizu N. (2000)
    2. Groucho-associated transcriptional repressor ripply1 is required for proper transition from the presomitic mesoderm to somites. (PubMed id 16326386)2 Kawamura A....Takada S. (2005)
    3. The DNA sequence of human chromosome 21. (PubMed id 10830953)1 Hattori M....Yaspo M.L. (2000)

    External Searches for DSCR6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing DSCR6 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 53820 HGNC: 3047 AceView: DSCR6 Ensembl:ENSG00000183145 euGenes: HUgn53820
    ECgene: DSCR6 H-InvDB: DSCR6

    Other Databases showing DSCR6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DSCR6 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for DSCR6 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for DSCR6 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for DSCR6 gene:
    Search GeneIP for patents involving DSCR6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for DSCR6 gene

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    About This Section

     
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    von Willebrand factor
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