Protein Description

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

No pathways found.

No diseases found.

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

No databases found.

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