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FLASH GENE
Symbol EMD contributors: mct/pgu - updated : 14-03-2019
HGNC name emerin
HGNC id 3331
Corresponding disease
ATFB13 atrial fibrillation, familial, 13
EMD Emery-Dreifuss muscular dystrophy
Location Xq28      Physical location : 153.607.596 - 153.609.881
Synonym name
  • emerin (Emery-Dreifuss muscular dystrophy)
  • LEM domain containing 5
    • Synonym symbol(s) STA, STAX, LEMD5, EDMD
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text flanked by two copies of 11.3 kb repeat in an inverted orientation observed in 33% females and prone to rearrangement
    STRUCTURE 2.29 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see FLNA
    Physical map
    MECP2 Xq28 methyl CpG binding protein 2 (Rett syndrome) OPN1LW Xq28 opsin 1 (cone pigments), long-wave-sensitive (color blindness, protan) OPN1MW Xq28 opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan) CXorf2 Xq28 chromosome X open reading frame 2 TKTL1 Xq28 transketolase-like 1 FLNA Xq28 filamin A, alpha (actin binding protein 280) EMD Xq28 emerin (Emery-Dreifuss muscular dystrophy) RPL10 Xq28 ribosomal protein L10 DNASE1L1 Xq28 deoxyribonuclease I-like 1 TAZ Xq28 tafazzin (cardiomyopathy, dilated 3A (X-linked); endocardial fibroelastosis 2; Barth syndrome) ATP6AP1 Xq28 ATPase, H+ transporting, lysosomal accessory protein 1 GDI1 Xq28 GDP dissociation inhibitor 1 DXS9928E Xq28 DNA segment on chromosome X (unique) 9928 expressed sequence PLXN3 Xq28 likely ortholog of mouse plexin 3 DXS9879E Xq28 DNA segment on chromosome X (unique) 9879 expressed sequence UBL4 Xq28 ubiquitin-like 4 SLC10A3 Xq28 solute carrier family 10 (sodium/bile acid cotransporter family), member 3 FAM3A Xq28 family with sequence similarity 3, member A G6PD Xq28 glucose-6-phosphate dehydrogenase IKBKG Xq28 inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1370 29 254 - 1994 7894480
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • a N terminal LEM globular domain (LAP2-emerin MAN1) of 40 AAs
  • immunoglobulin domain
  • tyrosine-phosphorylation sites critical for interactions of emerin with lamin A, actin or the transcriptional regulators
  • a C terminal hydrophobic anchoring region
  • several serine protein kinase sites
    • HOMOLOGY
    interspecies homolog to murine Emd
    homolog to rattus Emd
    Homologene
    FAMILY
  • LAP2 (lamina-associated protein 2) family
    • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus
    intracellular,nuclear envelope,int
    text membrane protein type 2, inner nuclear membrane
    basic FUNCTION
  • involved in nuclear lamina organization and in the stability and function of rigorously moving nuclei in tissues such as skeletal muscle, heart, joints
  • regulating gene expression in heart and muscle by interacting with specific transcription factors or DNA sequences
  • type II inner nuclear membrane (INM) protein
  • regulate the flux of beta-catenin, an important transcription coactivator, into the nucleus
  • can influence signaling pathways by restricting access of transcription coactivators to the nucleus
  • having functions in cell polarization
  • nuclear-membrane protein with roles in nuclear architecture, gene regulation and signaling
  • having roles as a downstream effector and signal integrator for tyrosine kinase signaling pathway(s) at the nuclear envelope
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LMNA, barrier to integration factor (BAF), through the LEM domain
  • interacting with nuclear actin
  • LMO7 positively regulating many EDMD-relevant genes (including emerin)
  • feedback-regulating LMO7
  • molecularly connected with the nuclear lamina, a protein meshwork composed of lamins and lamin-binding proteins underlying the inner nuclear membrane (emerin-prelamin A interplay influences nuclear organization)
  • interacting with SYNE2 (Nesprin-2 and emerin localize to the nuclear enveloppe)
  • binds to and inhibits the activity of LMO7, a transcription factor that regulates the expression of genes implicated in EMD (binding to LMO7 inhibited LMO7 binding to and activation of the MYOD and PAX3 promoters)
  • binds directly to HDAC3, the catalytic subunit of the nuclear co-repressor (NCoR) complex, and recruits HDAC3 to the nuclear periphery
  • EMD functions with MYH10 to polarize actin flow and nuclear movement in fibroblasts, suggesting a novel function for the nuclear envelope in organizing directional actin flow and cytoplasmic polarity
  • STIP1 stabilises EMD and loss of STIP1 alters nuclear structure via EMD degradation
    • cell & other
    REGULATION
    Other phosphorylated on serine 49 by protein kinase A
    its function is regulated by multiple tyrosine kinases, including ERBB2, SRC and ABL1, two of which (ERBB2, SRC) regulate striated muscle
    ASSOCIATED DISORDERS
    corresponding disease(s) EMD , ATFB13
    related resource Emery-Dreifuss Muscular Dystrophy, EMD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    at the inner nuclear membrane leads to unprocessed (non-farnesylated) prelamin A aberrant localization only
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS