Gene Symbol | EMD |
Entrez ID | 2010 |
Uniprot ID | P50402 |
Description | emerin |
Chromosomal Location | chrX: 154,379,197-154,381,523 |
Ontology | GO ID | GO Term | Definition | Evidence |
---|---|---|---|---|
BP |
GO:0006936 |
muscle contraction |
A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
TAS |
BP |
GO:0007077 |
mitotic nuclear envelope disassembly |
The cell cycle process in which the controlled breakdown of the nuclear envelope during mitotic cell division occurs. |
TAS |
BP |
GO:0007084 |
mitotic nuclear envelope reassembly |
The cell cycle process that results in reformation of the nuclear envelope during mitotic cell division. |
TAS |
BP |
GO:0007517 |
muscle organ development |
The process whose specific outcome is the progression of the muscle over time, from its formation to the mature structure. The muscle is an organ consisting of a tissue made up of various elongated cells that are specialized to contract and thus to produce movement and mechanical work. |
TAS |
BP |
GO:0035414 |
negative regulation of catenin import into nucleus |
Any process that decreases the rate, frequency or extent of the directed movement of a catenin protein from the cytoplasm into the nucleus. |
IMP |
BP |
GO:0035914 |
skeletal muscle cell differentiation |
The process in which a relatively unspecialized cell acquires specialized features of a skeletal muscle cell, a somatic cell located in skeletal muscle. |
IEA |
BP |
GO:0046827 |
positive regulation of protein export from nucleus |
Any process that activates or increases the frequency, rate or extent of directed movement of proteins from the nucleus into the cytoplasm. |
IMP |
BP |
GO:0048147 |
negative regulation of fibroblast proliferation |
Any process that stops, prevents, or reduces the frequency, rate or extent of multiplication or reproduction of fibroblast cells. |
IMP |
BP |
GO:0060828 |
regulation of canonical Wnt signaling pathway |
Any process that modulates the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. |
IMP |
BP |
GO:0071363 |
cellular response to growth factor stimulus |
Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus. |
IMP |
BP |
GO:0098609 |
cell-cell adhesion |
The attachment of one cell to another cell via adhesion molecules. |
IEA |
CC |
GO:0005635 |
nuclear envelope |
The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space). |
IDA|TAS |
CC |
GO:0005637 |
nuclear inner membrane |
The inner, i.e. lumen-facing, lipid bilayer of the nuclear envelope. |
IDA|NAS |
CC |
GO:0005640 |
nuclear outer membrane |
The outer, i.e. cytoplasm-facing, lipid bilayer of the nuclear envelope; continuous with the endoplasmic reticulum of the cell and sometimes studded with ribosomes. |
IDA |
CC |
GO:0005783 |
endoplasmic reticulum |
The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
IDA |
CC |
GO:0005874 |
microtubule |
Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
IEA |
CC |
GO:0005913 |
cell-cell adherens junction |
An adherens junction which connects a cell to another cell. |
IDA |
CC |
GO:0016020 |
membrane |
A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
IDA |
CC |
GO:0016021 |
integral component of membrane |
The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
IEA |
CC |
GO:0031965 |
nuclear membrane |
Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space. |
IDA |
MF |
GO:0003779 |
actin binding |
Interacting selectively and non-covalently with monomeric or multimeric forms of actin, including actin filaments. |
IDA |
MF |
GO:0005515 |
protein binding |
Interacting selectively and non-covalently with any protein or protein complex (a complex of two or more proteins that may include other nonprotein molecules). |
IPI |
MF |
GO:0048487 |
beta-tubulin binding |
Interacting selectively and non-covalently with the microtubule constituent protein beta-tubulin. |
IDA |
MF |
GO:0098641 |
cadherin binding involved in cell-cell adhesion |
Any cadherin binding that occurs as part of the process of cell-cell adhesion. |
IDA |
Domain ID | Description |
---|---|
IPR003887 |
LEM domain |
IPR011015 |
LEM/LEM-like domain |
Pathway ID | Pathway Term | Pathway Source |
---|---|---|
hsa05410 |
Hypertrophic cardiomyopathy (HCM) |
KEGG |
hsa05412 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) |
KEGG |
hsa05414 |
Dilated cardiomyopathy |
KEGG |
WP2118 |
Arrhythmogenic Right Ventricular Cardiomyopathy |
WikiPathways |
UMLS CUI | UMLS Term |
---|---|
C0410189 |
Muscular Dystrophy, Emery-Dreifuss |
C0751337 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
C0878544 |
Cardiomyopathies |
Tissue | Cell Type |
---|---|
smooth muscle |
smooth muscle 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 |
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 |
---|---|---|---|
FASN |
2194 |
P49327 |
0.49 |
SMU1 |
55234 |
Q2TAY7 |
0.49 |
CTNNBIP1 |
56998 |
Q9NSA3 |
0.52 |
MAB21L3 |
126868 |
Q8N8X9 |
0.63 |
C1QBP |
708 |
Q07021 |
0.63 |
CHD4 |
1108 |
Q14839 |
0.63 |
CNN3 |
1266 |
Q15417 |
0.63 |
EGF |
1950 |
P01133 |
0.63 |
EMD |
2010 |
P50402 |
0.63 |
XRCC6 |
2547 |
P12956 |
0.63 |
HADHA |
3030 |
P40939 |
0.63 |
HBD |
3045 |
P02042 |
0.63 |
HDAC1 |
3065 |
Q13547 |
0.63 |
HNRNPK |
3190 |
P61978 |
0.63 |
HSPA1A |
3303 |
P0DMV8 |
0.63 |
HSPA1B |
3304 |
P0DMV9 |
0.63 |
LPL |
4023 |
P06858 |
0.63 |
MCM2 |
4171 |
P49736 |
0.63 |
MCM4 |
4173 |
P33991 |
0.63 |
MCM6 |
4175 |
Q14566 |
0.63 |
MYH9 |
4627 |
P35579 |
0.63 |
MYO1C |
4641 |
O00159 |
0.63 |
MYO1E |
4643 |
Q12965 |
0.63 |
PRKDC |
5591 |
P78527 |
0.63 |
RBL1 |
5933 |
P28749 |
0.63 |
SMARCB1 |
6598 |
Q12824 |
0.63 |
SMARCC1 |
6599 |
Q92922 |
0.63 |
SMARCC2 |
6601 |
Q8TAQ2 |
0.63 |
SPTAN1 |
6709 |
Q13813 |
0.63 |
SSB |
6741 |
P05455 |
0.63 |
SUPT6H |
6830 |
Q7KZ85 |
0.63 |
TBL1X |
6907 |
O60907 |
0.63 |
THRA |
7067 |
P10827 |
0.63 |
TUBB2A |
7280 |
Q13885 |
0.63 |
VAV1 |
7409 |
P15498 |
0.63 |
YWHAB |
7529 |
P31946 |
0.63 |
YWHAE |
7531 |
P62258 |
0.63 |
PCGF2 |
7703 |
P35227 |
0.63 |
ZNF165 |
7718 |
P49910 |
0.63 |
ZNF232 |
7775 |
Q9UNY5 |
0.63 |
DDX39B |
7919 |
Q13838 |
0.63 |
IRS4 |
8471 |
O14654 |
0.63 |
HDAC3 |
8841 |
O15379 |
0.63 |
ZRANB2 |
9406 |
O95218 |
0.63 |
SEC16A |
9919 |
O15027 |
0.63 |
G3BP1 |
10146 |
Q13283 |
0.63 |
TRIM28 |
10155 |
Q13263 |
0.63 |
SAP18 |
10284 |
O00422 |
0.63 |
TUBB3 |
10381 |
Q13509 |
0.63 |
TUBB4B |
10383 |
P68371 |
0.63 |
CREB3 |
10488 |
O43889 |
0.63 |
PNPLA6 |
10908 |
Q8IY17 |
0.63 |
YWHAQ |
10971 |
P27348 |
0.63 |
COPS6 |
10980 |
Q7L5N1 |
0.63 |
CDC37 |
11140 |
Q16543 |
0.63 |
WDR6 |
11180 |
Q9NNW5 |
0.63 |
SNRNP200 |
23020 |
O75643 |
0.63 |
RCOR1 |
23186 |
Q9UKL0 |
0.63 |
GIGYF2 |
26058 |
Q6Y7W6 |
0.63 |
PDCD4 |
27250 |
Q53EL6 |
0.63 |
MED4 |
29079 |
Q9NPJ6 |
0.63 |
ABT1 |
29777 |
Q9ULW3 |
0.63 |
LUZP4 |
51213 |
Q9P127 |
0.63 |
LSM8 |
51691 |
O95777 |
0.63 |
DPPA4 |
55211 |
Q7L190 |
0.63 |
FANCI |
55215 |
Q9NVI1 |
0.63 |
BCCIP |
56647 |
Q9P287 |
0.63 |
PAK7 |
57144 |
Q9P286 |
0.63 |
LSM2 |
57819 |
Q9Y333 |
0.63 |
AEN |
64782 |
Q8WTP8 |
0.63 |
SAP130 |
79595 |
Q9H0E3 |
0.63 |
TBL1XR1 |
79718 |
Q9BZK7 |
0.63 |
CCDC33 |
80125 |
Q8N5R6 |
0.63 |
SIKE1 |
80143 |
Q9BRV8 |
0.63 |
EFHC2 |
80258 |
Q5JST6 |
0.63 |
CEP70 |
80321 |
Q8NHQ1 |
0.63 |
TRAF3IP3 |
80342 |
Q9Y228 |
0.63 |
DPY30 |
84661 |
Q9C005 |
0.63 |
TUBA1C |
84790 |
Q9BQE3 |
0.63 |
CATSPER1 |
117144 |
Q8NEC5 |
0.63 |
TUBB |
203068 |
P07437 |
0.63 |
TRIM42 |
287015 |
Q8IWZ5 |
0.63 |
SYNE2 |
23224 |
Q8WXH0 |
0.68 |
SUN2 |
25777 |
Q9UH99 |
0.68 |
HNRNPU |
3192 |
Q00839 |
0.73 |
SH3GL3 |
6457 |
Q99963 |
0.73 |
BEND7 |
222389 |
Q8N7W2 |
0.73 |
FATE1 |
89885 |
Q969F0 |
0.74 |
PSME1 |
5720 |
Q06323 |
0.76 |
ACTG2 |
72 |
P63267 |
0.78 |
LMO7 |
4008 |
Q8WWI1 |
0.78 |
SH3GL2 |
6456 |
Q99962 |
0.78 |
HDGF |
3068 |
P51858 |
0.82 |
LMNB1 |
4001 |
P20700 |
0.82 |
ACTB |
60 |
P60709 |
0.86 |
LMNA |
4000 |
P02545 |
0.90 |
DHX9 |
1660 |
Q08211 |
0.49 |
EWSR1 |
2130 |
Q01844 |
0.49 |
ADNP |
23394 |
Q9H2P0 |
0.49 |
TCTN3 |
26123 |
Q6NUS6 |
0.49 |
TMEM216 |
51259 |
Q9P0N5 |
0.49 |
TMEM237 |
65062 |
Q96Q45 |
0.49 |
TCTN2 |
79867 |
Q96GX1 |
0.49 |
NUP35 |
129401 |
Q8NFH5 |
0.49 |
EVC2 |
132884 |
Q86UK5 |
0.49 |
TMEM17 |
200728 |
Q86X19 |
0.49 |
BYSL |
705 |
Q13895 |
0.63 |
CLN3 |
1201 |
Q13286 |
0.63 |
CSNK1E |
1454 |
P49674 |
0.63 |
DDB2 |
1643 |
Q92466 |
0.63 |
EPAS1 |
2034 |
Q99814 |
0.63 |
KCND3 |
3752 |
Q9UK17 |
0.63 |
MOV10 |
4343 |
Q9HCE1 |
0.63 |
MTNR1A |
4543 |
P48039 |
0.63 |
NOS2 |
4843 |
P35228 |
0.63 |
NTRK1 |
4914 |
P04629 |
0.63 |
PHKG2 |
5261 |
P15735 |
0.63 |
PRKAA1 |
5562 |
Q13131 |
0.63 |
MAPK6 |
5597 |
Q16659 |
0.63 |
RNF2 |
6045 |
Q99496 |
0.63 |
SUMO3 |
6612 |
P55854 |
0.63 |
SUMO2 |
6613 |
P61956 |
0.63 |
CUL4A |
8451 |
Q13619 |
0.63 |
CUL3 |
8452 |
Q13618 |
0.63 |
CUL2 |
8453 |
Q13617 |
0.63 |
AIM2 |
9447 |
O14862 |
0.63 |
NCOR1 |
9611 |
O75376 |
0.63 |
MDC1 |
9656 |
Q14676 |
0.63 |
KIAA0101 |
9768 |
Q15004 |
0.63 |
CUL7 |
9820 |
Q14999 |
0.63 |
PAN2 |
9924 |
Q504Q3 |
0.63 |
OXSR1 |
9943 |
O95747 |
0.63 |
HDAC5 |
10014 |
Q9UQL6 |
0.63 |
NXF1 |
10482 |
Q9UBU9 |
0.63 |
UBD |
10537 |
O15205 |
0.63 |
TUBGCP2 |
10844 |
Q9BSJ2 |
0.63 |
PAXIP1 |
22976 |
Q6ZW49 |
0.63 |
FAF2 |
23197 |
Q96CS3 |
0.63 |
OBSL1 |
23363 |
O75147 |
0.63 |
SUZ12 |
23512 |
Q15022 |
0.63 |
FBXO6 |
26270 |
Q9NRD1 |
0.63 |
AGO2 |
27161 |
Q9UKV8 |
0.63 |
TUBGCP4 |
27229 |
Q9UGJ1 |
0.63 |
FOXRED2 |
80020 |
Q8IWF2 |
0.63 |
CCDC8 |
83987 |
Q9H0W5 |
0.63 |
TP53RK |
112858 |
Q96S44 |
0.63 |
LRRK2 |
120892 |
Q5S007 |
0.63 |
ASB10 |
136371 |
Q8WXI3 |
0.63 |
ASB14 |
142686 |
A6NK59 |
0.63 |
UBAC2 |
337867 |
Q8NBM4 |
0.63 |
ARAF |
369 |
P10398 |
0.72 |
CFTR |
1080 |
P13569 |
0.72 |
GDI1 |
2664 |
P31150 |
0.72 |
IRAK1 |
3654 |
P51617 |
0.72 |
JAK2 |
3717 |
O60674 |
0.72 |
LIMK2 |
3985 |
P53671 |
0.72 |
RAF1 |
5894 |
P04049 |
0.72 |
IQCB1 |
9657 |
Q15051 |
0.72 |
SIK2 |
23235 |
Q9H0K1 |
0.72 |
TMEM63B |
55362 |
Q5T3F8 |
0.72 |
FYCO1 |
79443 |
Q9BQS8 |
0.72 |
MBOAT1 |
154141 |
Q6ZNC8 |
0.72 |
AGO4 |
192670 |
Q9HCK5 |
0.72 |
EGFR |
1956 |
P00533 |
0.75 |
ESR1 |
2099 |
P03372 |
0.77 |
CTNNB1 |
1499 |
P35222 |
0.78 |
BCLAF1 |
9774 |
Q9NYF8 |
0.78 |
GMCL1 |
64395 |
Q96IK5 |
0.79 |
YTHDC1 |
91746 |
Q96MU7 |
0.79 |
ILK |
3611 |
Q13418 |
0.82 |
VCAM1 |
7412 |
P19320 |
0.82 |
AKAP8L |
26993 |
Q9ULX6 |
0.83 |
BANF1 |
8815 |
O75531 |
0.87 |
SYNE1 |
23345 |
Q8NF91 |
0.88 |