Human Gene DSCR3 (uc002ywf.1) Description and Page Index
  Description: Homo sapiens Down syndrome critical region gene 3 (DSCR3), mRNA.
RefSeq Summary (NM_006052): The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.892867.1, SRR1660807.239745.1 [ECO:0000332] RNAseq introns :: mixed/partial sample support SAMEA1965299, SAMEA1966682 [ECO:0000350] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000309117.11/ ENSP00000311399.6 RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr21:38,595,726-38,639,833 Size: 44,108 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr21:38,597,845-38,639,595 Size: 41,751 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr21:38,595,726-38,639,833)mRNA (may differ from genome)Protein (297 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
OMIMPubMedStanford SOURCETreefamUniProtKB

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Down syndrome critical region protein 3; AltName: Full=Down syndrome critical region protein A;
TISSUE SPECIFICITY: Ubiquitously expressed.
SIMILARITY: Belongs to the VPS26 family.

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): DSCR3
CDC HuGE Published Literature: DSCR3
Positive Disease Associations: Calcium
Related Studies:
  1. Calcium
    , , . [PubMed 0]

-  MalaCards Disease Associations
  MalaCards Gene Search: DSCR3
Diseases sorted by gene-association score: down syndrome (23)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.60 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 390.27 RPKM

View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -110.20238-0.463 Picture PostScript Text
3' UTR -679.782119-0.321 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR005377 - VPS26

Pfam Domains:
PF00339 - Arrestin (or S-antigen), N-terminal domain
PF03643 - Vacuolar protein sorting-associated protein 26

SCOP Domains:
81296 - E set domains

ModBase Predicted Comparative 3D Structure on O14972
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  Protein SequenceProtein Sequence  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0008565 protein transporter activity

Biological Process:
GO:0006886 intracellular protein transport
GO:0007165 signal transduction
GO:0008150 biological_process

Cellular Component:
GO:0005634 nucleus
GO:0005768 endosome

-  Descriptions from all associated GenBank mRNAs
  AK002068 - Homo sapiens cDNA FLJ11206 fis, clone PLACE1007846.
BX648191 - Homo sapiens mRNA; cDNA DKFZp686N0127 (from clone DKFZp686N0127).
AK126461 - Homo sapiens cDNA FLJ44497 fis, clone UTERU3000226.
D87343 - Homo sapiens mRNA for DCRA, complete cds.
LF385152 - JP 2014500723-A/192655: Polycomb-Associated Non-Coding RNAs.
JD037432 - Sequence 18456 from Patent EP1572962.
JD146875 - Sequence 127899 from Patent EP1572962.
JD312943 - Sequence 293967 from Patent EP1572962.
JD278600 - Sequence 259624 from Patent EP1572962.
JD082745 - Sequence 63769 from Patent EP1572962.
JD173934 - Sequence 154958 from Patent EP1572962.
JD130009 - Sequence 111033 from Patent EP1572962.
JD442568 - Sequence 423592 from Patent EP1572962.
JD434020 - Sequence 415044 from Patent EP1572962.
JD112804 - Sequence 93828 from Patent EP1572962.
LF339946 - JP 2014500723-A/147449: Polycomb-Associated Non-Coding RNAs.
JD549048 - Sequence 530072 from Patent EP1572962.
JD521027 - Sequence 502051 from Patent EP1572962.
JD325118 - Sequence 306142 from Patent EP1572962.
JD435388 - Sequence 416412 from Patent EP1572962.
JD529901 - Sequence 510925 from Patent EP1572962.
JD342369 - Sequence 323393 from Patent EP1572962.
JD077913 - Sequence 58937 from Patent EP1572962.
JD318470 - Sequence 299494 from Patent EP1572962.
JD224913 - Sequence 205937 from Patent EP1572962.
JD567009 - Sequence 548033 from Patent EP1572962.
JD064076 - Sequence 45100 from Patent EP1572962.
JD058808 - Sequence 39832 from Patent EP1572962.
JD338541 - Sequence 319565 from Patent EP1572962.
JD139368 - Sequence 120392 from Patent EP1572962.
JD519806 - Sequence 500830 from Patent EP1572962.
JD371227 - Sequence 352251 from Patent EP1572962.
JD232340 - Sequence 213364 from Patent EP1572962.
JD199729 - Sequence 180753 from Patent EP1572962.
JD127522 - Sequence 108546 from Patent EP1572962.
JD549029 - Sequence 530053 from Patent EP1572962.
JD264690 - Sequence 245714 from Patent EP1572962.
JD173624 - Sequence 154648 from Patent EP1572962.
JD441710 - Sequence 422734 from Patent EP1572962.
JD331000 - Sequence 312024 from Patent EP1572962.
JD242709 - Sequence 223733 from Patent EP1572962.
JD329783 - Sequence 310807 from Patent EP1572962.
JD441709 - Sequence 422733 from Patent EP1572962.
JD329782 - Sequence 310806 from Patent EP1572962.
JD225893 - Sequence 206917 from Patent EP1572962.
JD345887 - Sequence 326911 from Patent EP1572962.
JD128188 - Sequence 109212 from Patent EP1572962.
JD397905 - Sequence 378929 from Patent EP1572962.
JD070264 - Sequence 51288 from Patent EP1572962.
JD514124 - Sequence 495148 from Patent EP1572962.
JD416322 - Sequence 397346 from Patent EP1572962.
JD514123 - Sequence 495147 from Patent EP1572962.
JD489099 - Sequence 470123 from Patent EP1572962.
JD409274 - Sequence 390298 from Patent EP1572962.
JD489098 - Sequence 470122 from Patent EP1572962.
JD374527 - Sequence 355551 from Patent EP1572962.
JD494195 - Sequence 475219 from Patent EP1572962.
JD080483 - Sequence 61507 from Patent EP1572962.
JD147847 - Sequence 128871 from Patent EP1572962.
JD562357 - Sequence 543381 from Patent EP1572962.
JD301255 - Sequence 282279 from Patent EP1572962.
JD266115 - Sequence 247139 from Patent EP1572962.
JD305309 - Sequence 286333 from Patent EP1572962.
JD065165 - Sequence 46189 from Patent EP1572962.
JD184879 - Sequence 165903 from Patent EP1572962.
JD325308 - Sequence 306332 from Patent EP1572962.
JD483733 - Sequence 464757 from Patent EP1572962.
JD475567 - Sequence 456591 from Patent EP1572962.
JD111934 - Sequence 92958 from Patent EP1572962.
AK307465 - Homo sapiens cDNA, FLJ97413.
AK299662 - Homo sapiens cDNA FLJ59969 complete cds, highly similar to Down syndrome critical region protein 3.
JD301148 - Sequence 282172 from Patent EP1572962.
AK303624 - Homo sapiens cDNA FLJ53689 complete cds, highly similar to Down syndrome critical region protein 3.
AK316460 - Homo sapiens cDNA, FLJ79359 complete cds, highly similar to Down syndrome critical region protein 3.
AK300024 - Homo sapiens cDNA FLJ53650 complete cds, highly similar to Down syndrome critical region protein 3.
AJ001867 - Homo Sapiens mRNA, partial cDNA sequence from cDNA selection, DCR1-11.0.
KJ893001 - Synthetic construct Homo sapiens clone ccsbBroadEn_02395 DSCR3 gene, encodes complete protein.
AK312707 - Homo sapiens cDNA, FLJ93107, Homo sapiens Down syndrome critical region gene 3 (DSCR3), mRNA.
JD540468 - Sequence 521492 from Patent EP1572962.
JD519863 - Sequence 500887 from Patent EP1572962.
JD408825 - Sequence 389849 from Patent EP1572962.
JD166052 - Sequence 147076 from Patent EP1572962.
MA620729 - JP 2018138019-A/192655: Polycomb-Associated Non-Coding RNAs.
MA575523 - JP 2018138019-A/147449: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: B2R6T8, D3DSH4, DCRA, DSCR3_HUMAN, DSCRA, NM_006052, NP_006043, O14972, Q2TAY6
UCSC ID: uc002ywf.1
RefSeq Accession: NM_006052
Protein: O14972 (aka DSCR3_HUMAN or DSR3_HUMAN)
CCDS: CCDS33553.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_006052.1
exon count: 8CDS single in 3' UTR: no RNA size: 3252
ORF size: 894CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1988.00frame shift in genome: no % Coverage: 99.97
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.