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
ID:DSCR3_HUMAN 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:
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.
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.