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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

EMD Gene

protein-coding   GIFtS: 65
GCID: GC0XP153607

Emerin

(Previous name: Emery-Dreifuss muscular dystrophy)
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 emerinopathy, and emd-related emery-dreifuss muscular dystrophy, x-linked, and among its related super-pathways are Hypertrophic cardiomyopathy (HCM) and Mitotic M-M/G1 phases. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.2  NT_167198.1  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for EMD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
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:

  • UniProtKB: Found in four different phosphorylated forms, three of which appear to be associated with the cell cycle
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P50402

  • EMD Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    EMD Protein Expression
    REFSEQ proteins: NP_000108.1  
    ENSEMBL proteins: 
     ENSP00000358857   ENSP00000358850   ENSP00000401081  
    Reactome Protein details: P50402
    Human Recombinant Protein Products for EMD: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene MassSpec for EMD 
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    Novus Biologicals EMD Proteins
    Novus Biologicals EMD Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for EMD 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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--

    EMD for ontologies           About GeneDecksing



    EMD Antibody Products: 
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    Abcam antibodies for EMD
    Cloud-Clone Corp. Antibodies for EMD 
    ThermoFisher Antibody for EMD
    LSBio Antibodies in human, mouse, rat for EMD 

    Assay Products for EMD: 
    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for EMD 
    Cloud-Clone Corp. CLIAs for EMD


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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


    EMD for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IDA15328537
    GO:0005515protein binding IPI15009215
    GO:0048487beta-tubulin binding IDA17785515
         
    EMD for ontologies           About GeneDecksing


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

    EMD for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for EMD 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for EMD

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for EMD 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for EMD 

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    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
    SwitchGear 3'UTR luciferase reporter plasmidEMD 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Sino Biological Human cDNA Clone for EMD
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                         Customized lentivirus expression plasmids for stable overexpression of EMD 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EMD


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for EMD About   (see all 7)                                                                                              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 cardiomyopathy0.53
    2M Phase
    Mitotic Anaphase0.94
    M Phase0.88
    Mitotic Metaphase and Anaphase0.94
    Mitotic M-M/G1 phases0.88
    3Initiation of Nuclear Envelope Reformation
    Initiation of Nuclear Envelope Reformation0.69
    Nuclear Envelope Reassembly0.69
    Clearance of Nuclear Envelope Membranes from Chromatin0.69
    4Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84
    5Regulation of Glucokinase by Glucokinase Regulatory Protein
    Nuclear Envelope Breakdown0.77
    Mitotic Prophase0.70

    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


    5/11        Reactome Pathways for EMD (see all 11)
        Mitotic Metaphase and Anaphase
    Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin
    Mitotic Anaphase
    Cell Cycle


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


    EMD for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for EMD

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

    5/152 Interacting proteins for EMD (P504021, 2, 3 ENSP000003588574) via UniProtKB, MINT, STRING, and/or I2D (see all 152)
    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): 5/11 biological process terms (GO ID links to tree view) (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

    EMD for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    EMD for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about EMD

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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

    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    4 QIAGEN miScript miRNA 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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    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 

    24/260 AceView cDNA sequences (see all 260):

    CR591915 CR598116 BQ773825 CA446964 BE257297 BP872132 CA423084 CR607659 
    AA293717 N80263 BG251642 BE408818 AU105588 BM911716 BU623099 AU099400 
    BC000738 CR617769 BM694607 BE385983 CR609721 BI832481 BU621783 AI685133 

    GeneLoc Exon Structure

    5/8 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    EMD expression in normal human tissues (normalized intensities)      EMD embryonic expression: see
    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 
     5/33 selected tissues (see all 33) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Testis (Reproductive System)    fully expand to see all 3 entries
             seminal vesicle ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex

    See EMD Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for EMD

    SOURCE GeneReport for Unigene cluster: Hs.522823

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

        SABiosciences Custom PCR Arrays for EMD
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for EMD gene from 2/8 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 78.66(n)1
    76.28(a)1
      X (37.92 cM)5
    137261  NM_007927.21  NP_031953.11 
     742546875 
    lizard
    (Anolis carolinensis)
    Reptilia EMD6
    Uncharacterized protein
    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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/97 SNPs in EMD are shown (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
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing EMD
    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 20/23 diseases for EMD (see all 23):    About MalaCards
    emerinopathy    emd-related emery-dreifuss muscular dystrophy, x-linked    emery-dreifuss muscular dystrophy    familial partial lipodystrophy
    neuromuscular disease    rigid spine syndrome    inclusion body myositis    muscular dystrophy
    progeria    lipodystrophy    myositis    myopathy
    limb-girdle muscular dystrophy    dilated cardiomyopathy    diarrhea    sinusitis
    herpes simplex    hypertrophic cardiomyopathy    cholera    neuropathy

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

    EMD for disorders           About GeneDecksing

    10/24 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)
    About This Section

    PubMed articles for EMD gene, integrated from 9 sources (see all 266):
    (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. (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. (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. (2004)
    4. The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity. (PubMed id 16680152)1, 2, 9 Jacque J.M. and Stevenson M. (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. (2001)
    6. BAF is required for emerin assembly into the reforming nuclear envelope. (PubMed id 11792822)1, 2, 9 Haraguchi T.... Hiraoka Y. (2001)
    7. Emerin-prelamin A interplay in human fibroblasts. (PubMed id 19323649)1, 2, 9 Capanni C....Lattanzi G. (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. (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. (2001)
    10. Immunocytochemical detection of emerin within the nuclear matrix. (PubMed id 9673989)1, 2, 9 Squarzoni S.... Maraldi N.M. (1998)

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

      Query String
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    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)
    About This Section
    Entrez Gene: 2010 HGNC: 3331 AceView: EMD Ensembl:ENSG00000102119 euGenes: HUgn2010
    ECgene: EMD Kegg: 2010 H-InvDB: EMD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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/sites/GeneTests/lab/gene/EMD

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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