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EMD Gene

protein-coding   GIFtS: 66
GCID: GC0XP153607

Emerin

(Previous name: Emery-Dreifuss muscular dystrophy)
  See EMD-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
emerin1 2
EDMD2 3 5
STA2 3 5
LEM Domain Containing 51 2
Emery-Dreifuss Muscular Dystrophy1
LEMD52

External Ids:    HGNC: 33311   Entrez Gene: 20102   Ensembl: ENSG000001021197   OMIM: 3003845   UniProtKB: P504023   

Export aliases for EMD gene to outside databases

Previous GC identifers: GC0XP147671 GC0XP149988 GC0XP151193 GC0XP152075 GC0XP153128 GC0XP153260 GC0XP142186


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 emerinopathy. GO annotations related to this gene include actin binding and beta-tubulin binding.

UniProtKB/Swiss-Prot: EMD_HUMAN, P50402
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 Wiki entry for EMD (Emerin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000023.10  NC_018934.2  NT_011681.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the EMD gene promoter:
         AP-2alpha isoform 3   AP-1   AP-2alpha isoform 2   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEMD promoter sequence
   Search Chromatin IP Primers for EMD

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EMD


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xq28   Ensembl cytogenetic band:  Xq28   HGNC cytogenetic band: Xq27.3-q28

EMD Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EMD gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP153607:  view genomic region     (about GC identifiers)

Start:
153,607,557 bp from pter      End:
153,609,883 bp from pter
Size:
2,327 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EMD_HUMAN, P50402 (See protein sequence)
Recommended Name: Emerin  
Size: 254 amino acids; 28994 Da
Subunit: 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
3 PDB 3D structures from and Proteopedia for EMD:
1JEI (3D)        2ODC (3D)        2ODG (3D)    
Secondary accessions: Q6FI02

Explore the universe of human proteins at neXtProt for EMD: NX_P50402

Explore proteomics data for EMD at MOPED

Post-translational modifications: 

  • Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle1
  • Ubiquitination2 at Lys79, Lys88
  • Modification sites at PhosphoSitePlus

  • See EMD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000108.1  
    ENSEMBL proteins: 
     ENSP00000358857   ENSP00000358850   ENSP00000401081  
    Reactome Protein details: P50402

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    Cloud-Clone Corp. Proteins for EMD

     
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    antibodies-online proteins for EMD (4 products) 

     
    antibodies-online peptides for EMD

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    antibodies-online antibodies for EMD (65 products) 

    EMD Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    antibodies-online kits for EMD (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR003887 LEM_dom
     IPR011015 LEM/LEM-like_dom

    Graphical View of Domain Structure for InterPro Entry P50402

    ProtoNet protein and cluster: P50402

    1 Blocks protein domain: IPB011015 LEM-like fold

    UniProtKB/Swiss-Prot: EMD_HUMAN, P50402
    Similarity: Contains 1 LEM domain


    Find genes that share domains with EMD           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EMD_HUMAN, P50402
    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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA15328537
    GO:0005515protein binding IPI15009215
    GO:0048487beta-tubulin binding IDA17785515
         
    Find genes that share ontologies with EMD           About GenesLikeMe


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Emd):
     behavior/neurological  cardiovascular system  cellular  muscle 

    Find genes that share phenotypes with EMD           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for EMD: Emdtm1Ykh Emdtm1.1Stw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EMD
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    hsa-mir-124-3p (MIRT022307), hsa-mir-25-3p (MIRT050333), hsa-mir-484 (MIRT041790), hsa-mir-92a-3p (MIRT049830), hsa-mir-1 (MIRT023624), hsa-mir-125b-5p (MIRT046034), hsa-mir-615-3p (MIRT040236)

    Block miRNA regulation of human, mouse, rat EMD using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate EMD:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidEMD 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EMD

    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EMD

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMD


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    EMD_HUMAN, P50402: 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: 

    CompartmentConfidence
    nucleus5
    endoplasmic reticulum4
    cytoskeleton3
    cytosol1
    mitochondrion1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope TAS--
    GO:0005637nuclear inner membrane NAS16858403
    GO:0005640nuclear outer membrane IDA17785515
    GO:0005783endoplasmic reticulum IDA--
    GO:0005874microtubule IEA--

    Find genes that share ontologies with EMD           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for EMD About   (see all 8)  
    See pathways by source

    SuperPathContained pathways About
    1Hypertrophic cardiomyopathy (HCM)
    Hypertrophic cardiomyopathy (HCM)0.75
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)0.54
    Dilated cardiomyopathy0.75
    Arrhythmogenic right ventricular cardiomyopathy0.54
    2Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    3Nuclear Envelope Reassembly
    Nuclear Envelope Reassembly
    Initiation of Nuclear Envelope Reformation0.00
    Clearance of Nuclear Envelope Membranes from Chromatin0.00
    4Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93
    5Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear Envelope Breakdown0.77


    Find genes that share SuperPaths with EMD           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for EMD
        Wnt / Hedgehog / Notch
    Cytoskeletal Signaling

    1 BioSystems Pathway for EMD
        Arrhythmogenic right ventricular cardiomyopathy


    3 Reactome Pathways for EMD
        Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin
    Depolymerisation of the Nuclear Lamina


    3 Kegg Pathways  (Kegg details for EMD):
        Hypertrophic cardiomyopathy (HCM)
    Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    Dilated cardiomyopathy

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EMD
    Interactions:

        GeneGlobe Interaction Network for EMD

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EMD (P504021, 2, 3 ENSP000003588574) via UniProtKB, MINT, STRING, and/or I2D (see all 156)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCLAF1Q9NYF81, 3, ENSP000000311354EBI-489887,EBI-437804 I2D: score=3 STRING: ENSP00000031135
    MAPK6Q166592, 3MINT-8261098 I2D: score=2 
    C1QBPQ070212, 3MINT-6489217 I2D: score=1 
    ENSG00000206454Q018603I2D: score=2 
    ENSG00000229094Q018603I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000278mitotic cell cycle TAS--
    GO:0006936muscle contraction TAS7894480
    GO:0007077mitotic nuclear envelope disassembly TAS--
    GO:0007084mitotic nuclear envelope reassembly TAS--
    GO:0007517muscle organ development TAS7894480

    Find genes that share ontologies with EMD           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for EMD

    2 Novoseek inferred chemical compound relationships for EMD gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sterol 13.3 3 11352637 (2)
    calcium 2.26 1 10732816 (1)



    Find genes that share compounds with EMD           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EMD gene: 
    NM_000117.2  

    Unigene Cluster for EMD:

    Emerin
    Hs.522823  [show with all ESTs]
    Unigene Representative Sequence: BQ059597
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000369842(uc004fkl.3) ENST00000369835 ENST00000486738 ENST00000428228
    ENST00000485261 ENST00000494443 ENST00000468294 ENST00000492448 ENST00000471965

    miRNA
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    4 qRT-PCR Assays for microRNAs that regulate EMD:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidEMD 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat EMD

    Additional mRNA sequence: 

    BC000738.2 BT007401.1 CR536536.1 X82434.1 

    18 DOTS entries:

    DT.452901  DT.100654666  DT.95158317  DT.95158321  DT.100029653  DT.121293898  DT.100852554  DT.91759686 
    DT.91759690  DT.100698710  DT.91759678  DT.95158323  DT.121293715  DT.121294672  DT.121294694  DT.86855273 
    DT.91906253  DT.121294329 

    Selected AceView cDNA sequences (see all 260):

    NM_000117 CR591915 BI861401 BQ002953 AA912414 BE408818 AA352226 BQ773825 
    BE386330 AA394179 BM694607 CR536536 BP872132 BU622763 BE275420 BM703062 
    CA446964 AI685133 BC000738 BG251642 BU628604 BI832481 BF793665 BX384119 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for EMD (see all 8)    About this scheme

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


    ECgene alternative splicing isoforms for EMD

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    EMD expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CATTCCTCCT
    EMD Expression
    About this image


    EMD expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Brain (Nervous System)
             Cerebral Cortex
    EMD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EMD Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522823

    UniProtKB/Swiss-Prot: EMD_HUMAN, P50402
    Tissue specificity: Skeletal muscle, heart, colon, testis, ovary and pancreas

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMD

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for EMD gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Emd1 , 5 emerin1, 5 78(n)1
    75.89(a)1
      X (37.92 cM)5
    137261  NM_007927.31  NP_031953.11 
     742546875 
    lizard
    (Anolis carolinensis)
    Reptilia EMD6
    emerin
    32(a)
    1 ↔ 1
    2(88804981-88870896)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for EMD (see all 97)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0051994
    Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1)4--see VAR_0051992 P H mis40--------
    VAR_0160164
    Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1)4--see VAR_0160162 Q H mis40--------
    VAR_0052004
    Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1)4--see VAR_0052002 P T mis40--------
    VAR_0051984
    Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1)4--see VAR_0051982 S F mis40--------
    rs1048948061,2
    Cpathogenic1153477606(+) ATTATA/CCTACT 2 T P mis10--------
    rs1048948051,2
    Cpathogenic1153477607(+) TTATCA/CTACTT 2 H P mis10--------
    rs1485157721,2
    Cprobable-pathogenic1153477529(+) CGGCCG/AGGACA 2 /Q /R mis11Minor allele frequency- A:0.00NA 4544
    rs20708181,2,,4
    C,F,Huntested1153477425(+) GCAAGG/CATAGG 2 /H /D mis15Minor allele frequency- C:0.00NS EA NA 420
    rs174261,2
    C,F,Huntested1153477883(+) TGACTG/CCCTTA 1 -- ut31 ese39Minor allele frequency- C:0.18NA MN NS EA 584
    rs174271,2
    C,Funtested1153477884(+) GACTGC/TCTTAG 1 -- ut31 ese35Minor allele frequency- T:0.41NA MN 354

    HapMap Linkage Disequilibrium report for EMD (153607557 - 153609883 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for EMD:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv9999CNV Gain18304495
    nsv519042CNV Gain19592680
    esv33199CNV Gain+Loss17666407
    esv33784CNV Gain+Loss17666407
    nsv7468OTHER Inversion18451855
    dgv65n47OTHER Inversion21111241
    nsv220OTHER Inversion15895083

    Human Gene Mutation Database (HGMD): EMD
    Locus Specific Mutation Databases (LSDB): EMD

    Site Specific Mutation Identification with PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for EMD

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 300384   
    OMIM disorders: 310300  
    UniProtKB/Swiss-Prot: EMD_HUMAN, P50402
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 10 diseases for EMD:    
    About MalaCards
    emery-dreifuss muscular dystrophy 1, x-linked    emerinopathy    emd-related emery-dreifuss muscular dystrophy, x-linked    neuromuscular disease
    emery-dreifuss muscular dystrophy    myopathy with postural muscle atrophy, x-linked    dystonia 16    rigid spine syndrome
    familial partial lipodystrophy    muscular dystrophy

    5 diseases from the University of Copenhagen DISEASES database for EMD:
    Myopathy     Neuropathy     Lipodystrophy     Progeria
    Dilated cardiomyopathy

    Find genes that share disorders with EMD           About GenesLikeMe

    Selected Novoseek inferred disease relationships for EMD gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscular dystrophy emery-dreifuss 99 106 9472006 (3), 10318763 (3), 11839786 (2), 16761279 (2) (see all 84)
    emery-dreifuss muscular dystrophy, autosomal dominant 95.2 1 11792810 (1)
    lipodystrophy, familial partial 89.2 1 14597414 (1)
    defect conduction 80.8 2 16791377 (1), 17620497 (1)
    muscular dystrophies 80.5 16 18646565 (2), 11159939 (1), 10399752 (1), 10533281 (1) (see all 12)
    limb girdle 75.8 3 18646565 (1), 15543503 (1)
    contracture 74.6 8 10965799 (1), 11385714 (1), 15773747 (1), 16791377 (1) (see all 7)
    muscular dystrophy limb-girdle 73.9 3 17620497 (3)
    cardiomyopathy 68.4 6 11385714 (1), 11357018 (1), 16515362 (1), 17164264 (1) (see all 6)
    dilated cardiomyopathy 66 4 12783988 (1), 17117676 (1), 11792810 (1)

    GeneTests: EMD
    GeneReviews: EMD
    Genetic Association Database (GAD): EMD
    Human Genome Epidemiology (HuGE) Navigator: EMD (6 documents)

    Export disorders for EMD gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for EMD gene, integrated from 10 sources (see all 272):
    (articles sorted by number of sources associating them with EMD)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. (PubMed id 9472006)1, 2, 9 Ellis J.A.... Kendrick-Jones J. (J. Cell Sci. 1998)
    2. Emerin interacts in vitro with the splicing-associated factor, YT521- B. (PubMed id 12755701)1, 2, 9 Wilkinson F.L.... Morris G.E. (Eur. J. Biochem. 2003)
    3. Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane. (PubMed id 15328537)1, 2, 9 Holaska J.M.... Wilson K.L. (PLoS Biol. 2004)
    4. The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity. (PubMed id 16680152)1, 2, 9 Jacque J.-M. and Stevenson M. (Nature 2006)
    5. Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy. (PubMed id 11470279)1, 2, 9 Wolff N....Zinn-Justin S. (FEBS Lett. 2001)
    6. BAF is required for emerin assembly into the reforming nuclear envelope. (PubMed id 11792822)1, 2, 9 Haraguchi T.... Hiraoka Y. (J. Cell Sci. 2001)
    7. Emerin-prelamin A interplay in human fibroblasts. (PubMed id 19323649)1, 2, 9 Capanni C.... Lattanzi G. (Biol. Cell 2009)
    8. The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus. (PubMed id 16858403)1, 2, 9 Markiewicz E.... Hutchison C.J. (EMBO J. 2006)
    9. How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy? (PubMed id 11587540)1, 2, 9 Holt I.... Morris G.E. (Biochem. Biophys. Res. Commun. 2001)
    10. Immunocytochemical detection of emerin within the nuclear matrix. (PubMed id 9673989)1, 2, 9 Squarzoni S.... Maraldi N.M. (Neuromuscul. Disord. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2010 HGNC: 3331 AceView: EMD Ensembl:ENSG00000102119 euGenes: HUgn2010
    ECgene: EMD Kegg: 2010 H-InvDB: EMD

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for EMD Pharmacogenomics, SNPs, Pathways
    EMD dbhttp://www.dmd.nl/nmdb/index.php?select_db=EMD
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EMD[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EMD gene:
    Search GeneIP for patents involving EMD

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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