Protein Description

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

No databases found.

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