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FLASH GENE
Symbol LEMD2 contributors: SGE/npt - updated : 26-10-2018
HGNC name LEM domain containing 2
HGNC id 21244
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousnervecranial nerve  highly
Reproductivefemale systemovary  moderately
 female systembreastmammary gland moderately
 female systemuteruscervix moderately
Respiratorylung   moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  moderately
Connectivebone  moderately
Muscularstriatumskeletal highly Homo sapiens
cell lineage
cell lines
fluid/secretion blood
at STAGE
physiological period embryo, fetal, pregnancy
Text umbilical cord, embryonic tissue
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a LEM domain, (lamina-associated polypeptide-emerin-MAN1) domain, a motif shared by a group of lamin-interacting proteins in the inner nuclear membrane (INM) and in the nucleoplasm, mediating binding to a DNA-crosslinking protein, barrier-to-autointegration factor (BAF)
  • two predicted transmembrane domains
  • a MAN1-Src1p C-terminal (MSC) domain highly homologous to MAN1
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to rattus Lemd2 (95.37 pc)
    homolog to murine Lemd2 (95.94 pc)
    Homologene
    FAMILY
  • RRM superfamily
  • LEM-domain proteins family
  • LEM (Lap2-Emerin-Man1) family of inner nuclear membrane proteins
  • CATEGORY chaperone/stress , structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nuclear envelope,int
    text
  • inner nuclear membrane
  • most LEM-domain proteins are found at the nuclear membrane, but some are nucleoplasmic
  • basic FUNCTION
  • may be a transcriptional coactivator
  • A-type-lamin-associated, inner nuclear membrane protein, involved in nuclear structure organization
  • critical for normal nuclear envelope morphology
  • is required for myogenic differentiation (Huber 2009)
  • INM protein LEMD2 is concomitantly expressed with A-type lamins in various cell types but is lacking in inverted nuclei of rod cells
  • LEMD2 and the ESCRT-II/ESCRT-III hybrid protein CHMP7, work together to recruit additional ESCRT-III proteins to holes in the nuclear membrane
  • LEMD2 is a conserved nuclear site-specific adaptor that recruits CHMP7 and downstream ESCRT factors to the nuclear envelope
  • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • recruit A-type lamins, emerin, MAN1 and BAF, whereas lamin B and lamin B receptor are excluded
  • LEMD2 may recruit, stabilize and/or orchestrate NER proteins at DNA lesions located at the nuclear periphery
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCC10 , PGLS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    LEMD2, but not EMD or LEMD3 depletion reduced cell viability following UV treatment
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • mutation in LEMD2 may cause muscle diseases (Huber 2009)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS