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Aliases for EMD Gene

Aliases for EMD Gene

  • Emerin 2 3 3 5
  • LEM Domain Containing 5 2 3
  • EDMD 3 4
  • STA 3 4
  • 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 Emery-Dreifuss Muscular Dystrophy, X-Linked. Among its related pathways are Cell Cycle, Mitotic and Cytoskeletal Signaling. Gene Ontology (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

Additional gene information for EMD Gene

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

Genomics for EMD Gene

GeneHancer (GH) Regulatory Elements for EMD Gene

Promoters and enhancers for EMD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ154364 Promoter/Enhancer 2.5 VISTA EPDnew Ensembl ENCODE dbSUPER 655.1 -9.0 -9007 10.7 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 EMD FLNA PLXNA3 FAM50A SLC10A3 DKC1 CH17-340M24.3 ENSG00000285018 GC0XM154351 GC0XM154352
GH0XJ154376 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 663.6 -0.1 -52 5.7 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 POLR2B ZNF213 E2F8 ZNF207 EMD PLXNA3 DKC1 HCFC1 SNORA70 SLC10A3 SNORA56 TMEM187 RPL10 CH17-340M24.3
GH0XJ154396 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 25.3 +20.3 20283 6.2 HNRNPUL1 PKNOX1 CLOCK SMAD1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 SNORA70 ENSG00000280195 GC0XP154402 GC0XP154401 RPL10 HCFC1 PLXNA3 DKC1 SNORA56 EMD
GH0XJ154723 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 25.6 +352.2 352228 16 FOXA2 ZFP64 IRF4 YY1 ZNF213 FOS RUNX3 RXRA JUNB ZC3H11A DKC1 SNORA70 HCFC1 SNORA56 F8A1 EMD GAB3 PLXNA3 F8A2 SLC10A3
GH0XJ153922 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 14.8 -452.4 -452382 7.7 HDGF HNRNPUL1 PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ARHGAP4 TMEM187 HCFC1 SNORA70 DKC1 SLC10A3 EMD HCFC1-AS1 FLNA PLXNA3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EMD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EMD gene promoter:
  • AP-1
  • AP-2alpha
  • AP-2alphaA
  • AP-2alpha isoform 4
  • AP-2alpha isoform 3
  • AP-2alpha isoform 2

Genomic Locations for EMD Gene

Genomic Locations for EMD Gene
chrX:154,379,197-154,381,523
(GRCh38/hg38)
Size:
2,327 bases
Orientation:
Plus strand
chrX:153,607,557-153,609,883
(GRCh37/hg19)
Size:
2,327 bases
Orientation:
Plus strand

Genomic View for EMD Gene

Genes around EMD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EMD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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. Interacts with TMEM201.

    Three dimensional structures from OCA and Proteopedia for EMD Gene

neXtProt entry for EMD Gene

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 Lys88
  • Modification sites at PhosphoSitePlus

Other Protein References for EMD Gene

No data available for DME Specific Peptides for EMD Gene

Domains & Families for EMD Gene

Gene Families for EMD Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for EMD Gene

Suggested Antigen Peptide Sequences for EMD Gene

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for EMD Gene

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 12163176
GO:0045296 cadherin binding IDA 25468996
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

Human Phenotype Ontology for EMD Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for EMD Gene

MGI Knock Outs for EMD:
  • Emd Emd<tm1.1Stw>
  • Emd Emd<tm1Ykh>

Animal Model Products

Clone Products

  • Addgene plasmids for EMD

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EMD gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytoskeleton 4
plasma membrane 2
cytosol 2
extracellular 1
mitochondrion 1
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (4)
  • Endoplasmic reticulum (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EMD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,TAS --
GO:0005637 nuclear inner membrane NAS 16858403
GO:0005640 nuclear outer membrane IDA,IEA 17785515
GO:0005654 nucleoplasm IDA 27534416
genes like me logo Genes that share ontologies with EMD: view

Pathways & Interactions for EMD Gene

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

SIGNOR curated interactions for EMD Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for EMD Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0035914 skeletal muscle cell differentiation IEA --
genes like me logo Genes that share ontologies with EMD: view

Drugs & Compounds for EMD Gene

(1) Drugs for EMD Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for EMD Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

Clone Products

  • Addgene plasmids for EMD

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for EMD Gene

Protein differential expression in normal tissues from HIPED for EMD Gene

This gene is overexpressed in Bone (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for EMD Gene



Protein tissue co-expression partners for EMD Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EMD Gene:

EMD

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.

Evidence on tissue expression from TISSUES for EMD Gene

  • Blood(4.4)
  • Liver(4.3)
  • Skin(3.7)
  • Muscle(3.1)
  • Intestine(3)
  • Heart(2.6)
  • Kidney(2.2)
  • Thyroid gland(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EMD Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • head
  • neck
Thorax:
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with EMD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
chimpanzee
(Pan troglodytes)
Mammalia EMD 34 33
  • 99.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia EMD 34 33
  • 79.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia EMD 34 33
  • 79.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Emd 33
  • 78.66 (n)
mouse
(Mus musculus)
Mammalia Emd 16 34 33
  • 78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EMD 34
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia EMD 34
  • 38 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EMD 34
  • 32 (a)
OneToOne
Species where no ortholog for EMD was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for EMD: view image

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 Variation AA Info Type
rs104894805 pathogenic, uncertain-significance, Emery-Dreifuss muscular dystrophy, X-linked, not specified, Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] 154,380,980(+) C/A/T coding_sequence_variant, missense_variant
rs104894806 pathogenic, Emery-Dreifuss muscular dystrophy, X-linked, Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300] 154,380,979(+) C/A coding_sequence_variant, missense_variant
rs1057520579 uncertain-significance, not specified, Emery-Dreifuss muscular dystrophy 1, X-linked 154,379,773(+) G/A/T coding_sequence_variant, missense_variant
rs1060502612 pathogenic, Emery-Dreifuss muscular dystrophy 1, X-linked 154,379,730(+) C/A coding_sequence_variant, stop_gained
rs132630262 pathogenic, Emery-Dreifuss muscular dystrophy, X-linked, not provided 154,379,737(+) C/T coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
dgv65n47 OTHER inversion 21111241
esv33199 CNV gain+loss 17666407
esv33784 CNV gain+loss 17666407
nsv220 OTHER inversion 15895083
nsv519042 CNV gain 19592680
nsv7468 OTHER inversion 18451855
nsv9999 CNV gain 18304495

Variation tolerance for EMD Gene

Residual Variation Intolerance Score: 35.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.66; 14.05% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for EMD Gene

Human Gene Mutation Database (HGMD)
EMD
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EMD

SNP Genotyping and Copy Number Assay Products

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

Disorders for EMD Gene

MalaCards: The human disease database

(24) MalaCards diseases for EMD Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
emery-dreifuss muscular dystrophy 1, x-linked
  • edmd1
emery-dreifuss muscular dystrophy, x-linked
  • edmd1
myopathy
  • muscular diseases
emery-dreifuss muscular dystrophy
  • muscular dystrophy, tardive, dreifuss-emery type, with contractures
muscular dystrophy
  • muscular dystrophies
- elite association - COSMIC cancer census association via MalaCards
Search EMD in MalaCards View complete list of genes associated with diseases

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, ECO:0000269 PubMed:15009215, ECO:0000269 PubMed:15328537}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for EMD

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with EMD: view

No data available for Genatlas for EMD Gene

Publications for EMD Gene

  1. Emerin-prelamin A interplay in human fibroblasts. (PMID: 19323649) Capanni C … Lattanzi G (Biology of the cell 2009) 3 4 22 58
  2. A novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membrane. (PMID: 17785515) Salpingidou G … Hutchison CJ (The Journal of cell biology 2007) 3 4 22 58
  3. The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity. (PMID: 16680152) Jacque JM … Stevenson M (Nature 2006) 3 4 22 58
  4. The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus. (PMID: 16858403) Markiewicz E … Hutchison CJ (The EMBO journal 2006) 3 4 22 58
  5. Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. (PMID: 15328537) Holaska JM … Wilson KL (PLoS biology 2004) 3 4 22 58

Products for EMD Gene

Sources for EMD Gene

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