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Aliases for EMD Gene

Aliases for EMD Gene

  • Emerin 2 3
  • EDMD 3 4 6
  • STA 3 4 6
  • LEM Domain Containing 5 2 3
  • Emery-Dreifuss Muscular Dystrophy 2
  • LEMD5 3

External Ids for EMD Gene

Previous GeneCards Identifiers for EMD Gene

  • GC0XP147671
  • GC0XP149988
  • GC0XP151193
  • GC0XP152075
  • GC0XP153128
  • GC0XP153260
  • GC0XP153607
  • GC0XP142186

Summaries for EMD Gene

Entrez Gene Summary for EMD Gene

  • Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for EMD Gene

EMD (Emerin) is a Protein Coding gene. Diseases associated with EMD include emery-dreifuss muscular dystrophy 1, x-linked and emd-related emery-dreifuss muscular dystrophy, x-linked. Among its related pathways are Cell Cycle, Mitotic and Cell Cycle, Mitotic. GO annotations related to this gene include actin binding and beta-tubulin binding.

UniProtKB/Swiss-Prot for EMD Gene

  • Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. Required for proper localization of non-farnesylated prelamin-A/C.

Gene Wiki entry for EMD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EMD Gene

Genomics for EMD Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for EMD Gene

Start:
154,379,197 bp from pter
End:
154,381,523 bp from pter
Size:
2,327 bases
Orientation:
Plus strand

Genomic View for EMD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for EMD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EMD Gene

Proteins for EMD Gene

  • Protein details for EMD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P50402-EMD_HUMAN
    Recommended name:
    Emerin
    Protein Accession:
    P50402
    Secondary Accessions:
    • Q6FI02

    Protein attributes for EMD Gene

    Size:
    254 amino acids
    Molecular mass:
    28994 Da
    Quaternary structure:
    • Interacts with lamins A and C, BANF1, GMCL, BCLAF1 and YTHDC1/YT521. Interacts with TMEM43; the interaction retains emerin in the nuclear inner membrane. Interacts with SUN1 and SUN2 (By similarity). Interacts with ACTB, SPTAN1, F-actin, CTNNB1 and beta-tubulin.

    Three dimensional structures from OCA and Proteopedia for EMD Gene

neXtProt entry for EMD Gene

Proteomics data for EMD Gene at MOPED

Post-translational modifications for EMD Gene

  • Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle.
  • Ubiquitination at Lys79 and Lys88
  • Modification sites at PhosphoSitePlus

Other Protein References for EMD Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for EMD (emerin)

No data available for DME Specific Peptides for EMD Gene

Domains for EMD Gene

Protein Domains for EMD Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for EMD Gene

Graphical View of Domain Structure for InterPro Entry

P50402

UniProtKB/Swiss-Prot:

EMD_HUMAN :
  • P50402
Domain:
  • Contains 1 LEM domain.
genes like me logo Genes that share domains with EMD: view

No data available for Gene Families for EMD Gene

Function for EMD Gene

Molecular function for EMD Gene

UniProtKB/Swiss-Prot Function:
Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta-catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. Required for proper localization of non-farnesylated prelamin-A/C.

Gene Ontology (GO) - Molecular Function for EMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IDA 15328537
GO:0005515 protein binding IPI 15009215
GO:0048487 beta-tubulin binding IDA 17785515
genes like me logo Genes that share ontologies with EMD: view
genes like me logo Genes that share phenotypes with EMD: view

Animal Models for EMD Gene

MGI Knock Outs for EMD:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EMD

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for EMD Gene

Localization for EMD Gene

Subcellular locations from UniProtKB/Swiss-Prot for EMD Gene

Nucleus inner membrane; Single-pass membrane protein; Nucleoplasmic side. Nucleus outer membrane. Note=Colocalized with BANF1 at the central region of the assembling nuclear rim, near spindle-attachment sites. The accumulation of different intermediates of prelamin-A/C (non-farnesylated or carboxymethylated farnesylated prelamin-A/C) in fibroblasts modify its localization in the nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EMD Gene COMPARTMENTS Subcellular localization image for EMD gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
cytoskeleton 3
cytosol 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for EMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005635 nuclear envelope TAS --
GO:0005637 nuclear inner membrane NAS 16858403
GO:0005640 nuclear outer membrane IDA 17785515
GO:0005783 endoplasmic reticulum IDA --
genes like me logo Genes that share ontologies with EMD: view

Pathways for EMD Gene

genes like me logo Genes that share pathways with EMD: view

Pathways by source for EMD Gene

Gene Ontology (GO) - Biological Process for EMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000278 mitotic cell cycle TAS --
GO:0006936 muscle contraction TAS 7894480
GO:0007077 mitotic nuclear envelope disassembly TAS --
GO:0007084 mitotic nuclear envelope reassembly TAS --
GO:0007517 muscle organ development TAS 7894480
genes like me logo Genes that share ontologies with EMD: view

Compounds for EMD Gene

(2) Novoseek inferred chemical compound relationships for EMD Gene

Compound -log(P) Hits PubMed IDs
sterol 13.3 2
calcium 2.26 1
genes like me logo Genes that share compounds with EMD: view

Transcripts for EMD Gene

mRNA/cDNA for EMD Gene

Unigene Clusters for EMD Gene

Emerin:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for EMD

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for EMD Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6a · 6b · 6c
SP1: - - -
SP2: - - - -
SP3: - - - -
SP4: - - -
SP5:
SP6: - -
SP7: -
SP8:

Relevant External Links for EMD Gene

GeneLoc Exon Structure for
EMD
ECgene alternative splicing isoforms for
EMD

Expression for EMD Gene

mRNA expression in normal human tissues for EMD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for EMD Gene

This gene is overexpressed in Bone (7.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for EMD Gene

SOURCE GeneReport for Unigene cluster for EMD Gene Hs.522823

mRNA Expression by UniProt/SwissProt for EMD Gene

P50402-EMD_HUMAN
Tissue specificity: Skeletal muscle, heart, colon, testis, ovary and pancreas
genes like me logo Genes that share expressions with EMD: view

Expression partners for EMD Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for EMD Gene

Orthologs for EMD Gene

This gene was present in the common ancestor of chordates.

Orthologs for EMD Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EMD 35
  • 79.18 (n)
  • 73.91 (a)
EMD 36
  • 76 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EMD 35
  • 79.84 (n)
  • 74.7 (a)
EMD 36
  • 70 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Emd 35
  • 78 (n)
  • 75.89 (a)
Emd 16
Emd 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EMD 35
  • 99.13 (n)
  • 98.43 (a)
EMD 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emd 35
  • 78.66 (n)
  • 75.49 (a)
oppossum
(Monodelphis domestica)
Mammalia EMD 36
  • 38 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia EMD 36
  • 45 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMD 36
  • 32 (a)
OneToOne
Species with no ortholog for EMD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EMD Gene

ENSEMBL:
Gene Tree for EMD (if available)
TreeFam:
Gene Tree for EMD (if available)

Paralogs for EMD Gene

No data available for Paralogs for EMD Gene

Variants for EMD Gene

Sequence variations from dbSNP and Humsavar for EMD Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs376569563 -- 154,379,570(+) AGGTA(C/T)GCGGC intron-variant
rs376456050 -- 154,380,886(+) GGGAA(C/T)GCCCC reference, missense
rs376439797 -- 154,379,924(+) TCTGT(C/G)TCCTC intron-variant
rs376388098 -- 154,379,830(+) GACGC(A/G)GGGAG intron-variant
rs375749772 -- 154,379,039(+) TCCGC(A/G)CCCGC upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for EMD Gene

Variant ID Type Subtype PubMed ID
esv33199 CNV Gain+Loss 17666407
esv33784 CNV Gain+Loss 17666407
nsv519042 CNV Gain 19592680
nsv7468 OTHER Inversion 18451855
nsv9999 CNV Gain 18304495
dgv65n47 OTHER Inversion 21111241
nsv220 OTHER Inversion 15895083

Relevant External Links for EMD Gene

HapMap Linkage Disequilibrium report
EMD
Human Gene Mutation Database (HGMD)
EMD
Locus Specific Mutation Databases (LSDB)
EMD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EMD Gene

Disorders for EMD Gene

(1) OMIM Diseases for EMD Gene (300384)

UniProtKB/Swiss-Prot

EMD_HUMAN
  • Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269 PubMed:10323252, ECO:0000269 PubMed:11587540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(5) University of Copenhagen DISEASES for EMD Gene

(24) Novoseek inferred disease relationships for EMD Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophy emery-dreifuss 99 96
emery-dreifuss muscular dystrophy, autosomal dominant 95.2 1
lipodystrophy, familial partial 89.2 1
defect conduction 80.8 2
muscular dystrophies 80.5 13

Relevant External Links for EMD

GeneTests
EMD
GeneReviews
EMD
Genetic Association Database (GAD)
EMD
Human Genome Epidemiology (HuGE) Navigator
EMD
genes like me logo Genes that share disorders with EMD: view

No data available for Genatlas for EMD Gene

Publications for EMD Gene

  1. A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. (PMID: 8655156) Yamada T. … Kobayashi T. (Hum. Genet. 1996) 3 4 23
  2. Immunocytochemical detection of emerin within the nuclear matrix. (PMID: 9673989) Squarzoni S. … Maraldi N.M. (Neuromuscul. Disord. 1998) 3 4 23
  3. Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy. (PMID: 10323252) Ellis J.A. … Brown C.A. (Hum. Genet. 1999) 3 4 23
  4. Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. (PMID: 9472006) Ellis J.A. … Kendrick-Jones J. (J. Cell Sci. 1998) 3 4 23
  5. How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy? (PMID: 11587540) Holt I. … Morris G.E. (Biochem. Biophys. Res. Commun. 2001) 3 4 23

Products for EMD Gene

  • Addgene plasmids for EMD

Sources for EMD Gene

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