Gene Symbol | MCFD2 |
Entrez ID | 90411 |
Uniprot ID | Q8NI22 |
Description | multiple coagulation factor deficiency 2 |
Chromosomal Location | chr2: 46,901,870-46,941,855 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006888 |
ER to Golgi vesicle-mediated transport |
The directed movement of substances from the endoplasmic reticulum (ER) to the Golgi, mediated by COP II vesicles. Small COP II coated vesicles form from the ER and then fuse directly with the cis-Golgi. Larger structures are transported along microtubules to the cis-Golgi. |
TAS |
BP |
GO:0015031 |
protein transport |
The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
IEA |
BP |
GO:0018279 |
protein N-linked glycosylation via asparagine |
The glycosylation of protein via the N4 atom of peptidyl-asparagine forming N4-glycosyl-L-asparagine; the most common form is N-acetylglucosaminyl asparagine; N-acetylgalactosaminyl asparagine and N4 glucosyl asparagine also occur. This modification typically occurs in extracellular peptides with an N-X-(ST) motif. Partial modification has been observed to occur with cysteine, rather than serine or threonine, in the third position; secondary structure features are important, and proline in the second or fourth positions inhibits modification. |
TAS |
BP |
GO:0048208 |
COPII vesicle coating |
The addition of COPII proteins and adaptor proteins to ER membranes during the formation of transport vesicles, forming a vesicle coat. |
TAS |
CC |
GO:0000139 |
Golgi membrane |
The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
IEA |
CC |
GO:0005789 |
endoplasmic reticulum membrane |
The lipid bilayer surrounding the endoplasmic reticulum. |
TAS |
CC |
GO:0012507 |
ER to Golgi transport vesicle membrane |
The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi. |
TAS |
CC |
GO:0033116 |
endoplasmic reticulum-Golgi intermediate compartment membrane |
The lipid bilayer surrounding any of the compartments of the endoplasmic reticulum (ER)-Golgi intermediate compartment system. |
TAS |
MF |
GO:0005509 |
calcium ion binding |
Interacting selectively and non-covalently with calcium ions (Ca2+). |
IEA |
Domain ID | Description |
---|---|
IPR002048 |
EF-hand domain |
IPR011992 |
EF-hand domain pair |
IPR018247 |
EF-Hand 1, calcium-binding site |
Tissue | Cell Type |
---|---|
breast |
glandular cells |
cerebral cortex |
neuronal cells |
cervix, uterine |
glandular cells |
epididymis |
glandular cells |
fallopian tube |
glandular cells |
kidney |
cells in tubules |
lung |
macrophages |
lung |
pneumocytes |
pancreas |
exocrine glandular cells |
pancreas |
islets of Langerhans |
parathyroid gland |
glandular cells |
placenta |
decidual cells |
placenta |
trophoblastic cells |
prostate |
glandular cells |
seminal vesicle |
glandular cells |
skin |
fibroblasts |
small intestine |
glandular cells |
soft tissue |
fibroblasts |
testis |
cells in seminiferous ducts |
testis |
Leydig cells |
thyroid gland |
glandular cells |
Pubmed ID | Author | Year | Title |
---|---|---|---|
22951915 |
Haozi et al. |
2012 |
Altered gene expression profile in cumulus cells of mature MII oocytes from patients with polycystic ovary syndrome |
Gene Symbol | Entrez ID | Uniprot ID | Score |
---|---|---|---|
AGL |
178 |
P35573 |
0.49 |
CAPZB |
832 |
P47756 |
0.49 |
EIF6 |
3692 |
P56537 |
0.49 |
PSMD12 |
5718 |
O00232 |
0.49 |
VARS |
7407 |
P26640 |
0.49 |
PSMD6 |
9861 |
Q15008 |
0.49 |
RUVBL2 |
10856 |
Q9Y230 |
0.49 |
LARS |
51520 |
Q9P2J5 |
0.49 |
ENOPH1 |
58478 |
Q9UHY7 |
0.49 |
APP |
351 |
P05067 |
0.56 |
LMAN1 |
3998 |
P49257 |
0.88 |
ACTN4 |
81 |
O43707 |
0.49 |
CAPZA1 |
829 |
P52907 |
0.49 |
CARS |
833 |
P49589 |
0.49 |
IGBP1 |
3476 |
P78318 |
0.49 |
MCM3 |
4172 |
P25205 |
0.49 |
PFKM |
5213 |
P08237 |
0.49 |
PFKP |
5214 |
Q01813 |
0.49 |
POLR2D |
5433 |
O15514 |
0.49 |
PSMC2 |
5701 |
P35998 |
0.49 |
PSMC4 |
5704 |
P43686 |
0.49 |
PSMD3 |
5709 |
O43242 |
0.49 |
PSMD4 |
5710 |
P55036 |
0.49 |
PSMD7 |
5713 |
P51665 |
0.49 |
PSMD11 |
5717 |
O00231 |
0.49 |
RXRB |
6257 |
P28702 |
0.49 |
SGTA |
6449 |
O43765 |
0.49 |
SKP1 |
6500 |
P63208 |
0.49 |
SNRPD1 |
6632 |
P62314 |
0.49 |
YWHAE |
7531 |
P62258 |
0.49 |
YWHAG |
7532 |
P61981 |
0.49 |
LAGE3 |
8270 |
Q14657 |
0.49 |
AIMP1 |
9255 |
Q12904 |
0.49 |
PSMD14 |
10213 |
O00487 |
0.49 |
DCTN2 |
10540 |
Q13561 |
0.49 |
YWHAQ |
10971 |
P27348 |
0.49 |
DSTN |
11034 |
P60981 |
0.49 |
COPE |
11316 |
O14579 |
0.49 |
XRN2 |
22803 |
Q9H0D6 |
0.49 |
SEPHS1 |
22929 |
P49903 |
0.49 |
TMOD3 |
29766 |
Q9NYL9 |
0.49 |
NLRP3 |
114548 |
Q96P20 |
0.49 |
F8 |
2157 |
P00451 |
0.52 |
UBXN6 |
80700 |
Q9BZV1 |
0.63 |