DSCR3 Gene
protein-coding GIFtS: 53
GCID: GC21M038591
|
|
Down syndrome critical region gene 3
| |
Aliases
for DSCR3 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
10fRNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section
|
| Aliases |
|---|
| Down Syndrome Critical Region Gene 31 2 | | DCRA1 2 3 | | Down Syndrome Critical Region Protein A2 3 11 | | DSCRA2 3 5 | | Down Syndrome Critical Region Protein 32 |
Export aliases for DSCR3 gene to outside databasesPrevious GC identifers: GC21M035173 GC21M037516 GC21M037517 GC21M024071 |
Summaries
for DSCR3 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for DSCR3:
The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been definedby analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of manycharacteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Downsyndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 isexpressed in most tissues examined. (provided by RefSeq, Jul 2008)
|
Genomic Views
for DSCR3 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, Whole Chromsome Sequence According to
Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
|
| GC21M038591: |
GeneLoc |
Nature:405,311-319 |
Start:
|
38,591,910 bp from pter |
24,172,248 bp from centromere |
End:
|
38,640,262 bp from pter |
24,216,356 bp from centromere |
Size:
|
48,353 bases |
44,109 bases |
Orientation:
|
minus strand |
minus strand |
Proteins
for DSCR3 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: DSCR3_HUMAN, O14972 (See
protein sequence)Recommended Name: Down syndrome critical region protein 3 Size: 297 amino acids; 33010 Da
Secondary accessions: B2R6T8 D3DSH4 Q2TAY6Explore the universe of human proteins at neXtProt for DSCR3: NX_O14972
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_O14972
DSCR3 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_006043.1
ENSEMBL proteins: ENSP00000420029 ENSP00000311399 ENSP00000381967 ENSP00000419496 ENSP00000381964 ENSP00000440308 ENSP00000288304
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table
DSCR3 for ontologies About GeneDecksing
DSCR3 Antibody Products:
Assay Products for DSCR3: |
Protein
Domains /
Families
for DSCR3 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DSCR3 for domains About GeneDecksing
1 InterPro domain/family:Graphical View of Domain Structure for InterPro Entry O14972ProtoNet protein and cluster: O14972 1 Blocks protein family: IPB005377 Vacuolar protein sorting-associated protein 26
UniProtKB/Swiss-Prot: DSCR3_HUMAN, O14972Similarity: Belongs to the VPS26 family |
Function
for DSCR3 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
|
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DSCR3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DSCR3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: DSCR3 (NM_006052) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DSCR3 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSCR3 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCR3 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
DSCR3 for ontologies About GeneDecksing
2 GenomeRNAi human phenotypes for DSCR3:
|
Pathways & Interactions
for DSCR3 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 DSCR3
STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)
4 Interacting proteins for DSCR3 (O149722, 3 ENSP000003113994) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0007034 | vacuolar transport |
IEA | -- | | GO:0008150 | biological_process |
ND | -- |
DSCR3 for ontologies About GeneDecksing
|
Drugs & Compounds
for DSCR3 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 Tocris compounds for DSCR3
Search CenterWatch for drugs/clinical trials and news about DSCR3
|
Transcripts
for DSCR3 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,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
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 DSCR3 gene: NM_006052.1 Unigene Cluster for DSCR3: Down syndrome critical region gene 3 Hs.369488 [show with all ESTs]Unigene Representative Sequence: AK12646116 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000471543 ENST00000497493 ENST00000309117(uc002ywf.1 uc010gnn.1 uc010gnl.2 uc011aeg.1 uc011aeh.1)
ENST00000399000(uc010gnm.1) ENST00000399001 ENST00000476950 ENST00000488368
ENST00000398998 ENST00000495858 ENST00000480452 ENST00000475009 ENST00000492514
ENST00000462467 ENST00000498789 ENST00000539844 ENST00000288304
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DSCR3 (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DSCR3
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: DSCR3 (NM_006052) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for DSCR3 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSCR3 |
Additional cDNA sequence: AJ001867.1 AK126461.1 AK299662.1 AK300024.1 AK303624.1 AK307465.1 AK312707.1 AK316460.1 BC110655.1 BX648191.1 D87343.1 16 DOTS entries: DT.95273201 DT.75171696 DT.210120 DT.121130425 DT.100671766 DT.86853271 DT.101963742 DT.97835601 DT.121130466 DT.92432029 DT.92432030 DT.95273200 DT.97777539 DT.100671765 DT.403724 DT.97800328 24/215 AceView cDNA sequences (see all 215): AI459423 BQ773478 BM661877 BF726637 AU127307 AU143747 AI571337 BE326803 AA767544 BQ669150 BX111849 BM556812 CB151380 BQ772068 AU132333 AI269171 BU629409 CA442968 AA303429 AU131575 BQ017976 AU125535 BM856374 CR624431
GeneLoc Exon Structure
5/10 Alternative Splicing Database (ASD) splice patterns (SP) for DSCR3 (see all 10) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | · | 1f | · | 1g | · | 1h | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b |
|---|
|
| SP1: | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | | | | | | | | | - | | | | | | | | | | - | | | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | - | | | | | | | | | | - | | - | | - | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | - | | - | | - | | | | | | - | | | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | - | | - | | - | | - | | - | | - | | - | | - | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for DSCR3
|
Expression
for DSCR3 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
| DSCR3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAATTAATAA
About this image
See DSCR3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for DSCR3
SOURCE GeneReport for Unigene cluster: Hs.369488
UniProtKB/Swiss-Prot: DSCR3_HUMAN, O14972Tissue specificity: Ubiquitously expressed
SABiosciences Custom PCR Arrays for DSCR3
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DSCR3
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat DSCR3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DSCR3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSCR3 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCR3 |
Orthologs
for DSCR3 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 eukaryotes.
Orthologs for DSCR3 gene from 7/24 species (see all 24) About this table
ENSEMBL Gene Tree for DSCR3 (if available)
TreeFam Gene Tree for DSCR3 (if available) |
Paralogs
for DSCR3 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for DSCR3 gene
DSCR3 for paralogs About GeneDecksing
1 Pseudogenes.org Pseudogene for DSCR3
PGOHUM00000240503
|
Genomic Variants
for DSCR3 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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 21 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for DSCR3 (38591910 - 38640262 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for DSCR3
1 Indel: 103087 | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DSCR3 |
|
Disorders
/ Diseases
for DSCR3 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
|
DSCR3 for disorders About GeneDecksing
OMIM gene information: 605298
OMIM disorders: --
3  diseases for DSCR3: About MalaCardsdown syndrome critical region down syndrome hypotonia
1 disease from the University of Copenhagen DISEASES database for DSCR3:Down syndrome Export disorders for DSCR3 gene to outside databases
|
Publications
for DSCR3 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 DSCR3 gene, integrated from 9 sources (see all 12):
(articles sorted by number of sources associating them with DSCR3) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2. (PubMed id 9399594)1, 2, 3 Nakamura A.... Sakaki Y. (1997)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
- Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
- Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
- A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
- A directed protein interaction network for investigat ing intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (2011)
- Cell array-based intracellular localization screening reveals novel functional features of human chromosome 21 proteins. (PubMed id 16780588)1 Hu Y.H....Janitz M. (2006)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for DSCR3 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing DSCR3 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DSCR3 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DSCR3 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
|
| Name | Description |
| PharmGKB entry for DSCR3 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for DSCR3 gene:
Search GeneIP for patents involving DSCR3
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DSCR3 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for DSCR3 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DSCR3 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for DSCR3 | | | OriGene Protein Over-expression Lysate for DSCR3 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for DSCR3 | | OriGene 3'-UTR Clone for DSCR3 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DSCR3 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DSCR3 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | OriGene Purified Protein for DSCR3 | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling | | | OriGene Custom Antibody Services for DSCR3 | | OriGene Custom Protein Services for DSCR3 | | | OriGene Custom Immunoassay Development | | |
| |
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat DSCR3 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DSCR3 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat DSCR3 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DSCR3 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DSCR3 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DSCR3 |
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 |  |  |  | |
| | | | Search Tocris compounds for DSCR3 |
| |  |  |  |  | | | | |
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 | | | DSCR3 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSCR3 |
|  |  |  | | | | ThermoFisher Antibodies for DSCR3 |
| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSCR3 |
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