| Gene Symbol | DSCR3 |
| Entrez ID | 10311 |
| Uniprot ID | O14972 |
| Description | Down syndrome critical region 3 |
| Chromosomal Location | chr21: 37,223,420-37,267,919 |
| Ontology | GO ID | GO Term | Definition | Evidence |
|---|---|---|---|---|
|
BP |
GO:0006886 |
intracellular protein transport |
The directed movement of proteins in a cell, including the movement of proteins between specific compartments or structures within a cell, such as organelles of a eukaryotic cell. |
IBA |
|
BP |
GO:0008150 |
biological_process |
Any process specifically pertinent to the functioning of integrated living units: cells, tissues, organs, and organisms. A process is a collection of molecular events with a defined beginning and end. |
ND |
|
CC |
GO:0005634 |
nucleus |
A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
IDA |
|
CC |
GO:0005768 |
endosome |
A vacuole to which materials ingested by endocytosis are delivered. |
IBA |
|
MF |
GO:0003674 |
molecular_function |
Elemental activities, such as catalysis or binding, describing the actions of a gene product at the molecular level. A given gene product may exhibit one or more molecular functions. |
ND |
|
MF |
GO:0008565 |
protein transporter activity |
Enables the directed movement of proteins into, out of or within a cell, or between cells. |
IBA |
| Domain ID | Description |
|---|---|
|
IPR014756 |
Immunoglobulin E-set |
|
IPR028934 |
Vacuolar protein sorting protein 26 related |
| UMLS CUI | UMLS Term |
|---|---|
|
C0013080 |
Down Syndrome |
|
C0151786 |
Muscle Weakness |
| Tissue | Cell Type |
|---|---|
|
adrenal gland |
glandular cells |
|
appendix |
glandular cells |
|
appendix |
lymphoid tissue |
|
bone marrow |
hematopoietic cells |
|
breast |
glandular cells |
|
breast |
myoepithelial cells |
|
bronchus |
respiratory epithelial cells |
|
colon |
glandular cells |
|
duodenum |
glandular cells |
|
endometrium |
cells in endometrial stroma |
|
endometrium |
glandular cells |
|
epididymis |
glandular cells |
|
esophagus |
squamous epithelial cells |
|
fallopian tube |
glandular cells |
|
gallbladder |
glandular cells |
|
lung |
macrophages |
|
lymph node |
germinal center cells |
|
lymph node |
non-germinal center cells |
|
pancreas |
exocrine glandular cells |
|
pancreas |
islets of Langerhans |
|
parathyroid gland |
glandular cells |
|
placenta |
decidual cells |
|
placenta |
trophoblastic cells |
|
prostate |
glandular cells |
|
rectum |
glandular cells |
|
seminal vesicle |
glandular cells |
|
skin |
keratinocytes |
|
skin |
Langerhans |
|
skin |
melanocytes |
|
skin |
epidermal cells |
|
small intestine |
glandular cells |
|
spleen |
cells in red pulp |
|
spleen |
cells in white pulp |
|
stomach |
glandular cells |
|
testis |
cells in seminiferous ducts |
|
testis |
Leydig cells |
|
tonsil |
germinal center cells |
|
tonsil |
non-germinal center cells |
|
tonsil |
squamous epithelial cells |
|
urinary bladder |
urothelial cells |
| Pubmed ID | Author | Year | Title |
|---|---|---|---|
|
22617121 |
Ouandaogo et al. |
2012 |
Differences in transcriptomic profiles of human cumulus cells isolated from oocytes at GV, MI and MII stages after in vivo andin vitro oocyte maturation |
| Gene Symbol | Entrez ID | Uniprot ID | Score |
|---|---|---|---|
|
MAT1A |
4143 |
Q00266 |
0.49 |
|
XPO7 |
23039 |
Q9UIA9 |
0.49 |
|
SH3GLB1 |
51100 |
Q9Y371 |
0.49 |
|
MAPK6 |
5597 |
Q16659 |
0.63 |
|
COMMD3 |
23412 |
Q9UBI1 |
0.63 |
|
CCDC93 |
54520 |
Q567U6 |
0.63 |
|
COMMD4 |
54939 |
Q9H0A8 |
0.63 |
|
CCDC22 |
28952 |
O60826 |
0.73 |