EMD (emerin)

2009-03-01  

Identity

HGNC
LOCATION
Xq28
LOCUSID
ALIAS
EDMD,LEMD5,STA

Other Information

Locus ID:

NCBI: 2010
MIM: 300384
HGNC: 3331
Ensembl: ENSG00000102119

Variants:

dbSNP: 2010
ClinVar: 2010
TCGA: ENSG00000102119
COSMIC: EMD

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000102119ENST00000369835Q5HY57
ENSG00000102119ENST00000369842P50402
ENSG00000102119ENST00000428228F8WEQ1

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)KEGGhsa05412
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Cell CycleREACTOMER-HSA-1640170
Cell Cycle, MitoticREACTOMER-HSA-69278
M PhaseREACTOMER-HSA-68886
Mitotic ProphaseREACTOMER-HSA-68875
Nuclear Envelope BreakdownREACTOMER-HSA-2980766
Clearance of Nuclear Envelope Membranes from ChromatinREACTOMER-HSA-2993913
Depolymerisation of the Nuclear LaminaREACTOMER-HSA-4419969
Mitotic Metaphase and AnaphaseREACTOMER-HSA-2555396
Mitotic AnaphaseREACTOMER-HSA-68882
Nuclear Envelope ReassemblyREACTOMER-HSA-2995410
Initiation of Nuclear Envelope ReformationREACTOMER-HSA-2995383

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
164814762006Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.103
168584032006The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus.95
117928212001Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.90
177855152007A novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membrane.90
153285372004Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
124937652003Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro.76
169978772006Mechanical properties of the cell nucleus and the effect of emerin deficiency.67
170679982006Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes.56
176523882007Emerin is hyperphosphorylated and redistributed in herpes simplex virus type 1-infected cells in a manner dependent on both UL34 and US3.56

Citation

Dessen P

EMD (emerin)

Atlas Genet Cytogenet Oncol Haematol. 2009-03-01

Online version: http://atlasgeneticsoncology.org/gene/50800/emd-(emerin)