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FLASH GENE
Symbol LEMD2 contributors: SGE/npt - updated : 26-10-2018
HGNC name LEM domain containing 2
HGNC id 21244
Corresponding disease
ARCC10 congenital cataract, autosomal recessive 10
PGLS progeria-like syndrome
Location 6p21.31      Physical location : 33.738.990 - 33.756.906
Synonym symbol(s) dJ482C21.1, LEM2, NET25
DNA
TYPE functioning gene
STRUCTURE 23.06 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Physical map
HKE2 6p21.3 HLA class II region expressed gene KE2 RAB2L 6p21.3 RAB2, member RAS oncogene family-like TAPBP 6p21.3 TAP binding protein (tapasin) ZNF297 6p21.3 zinc finger protein 297 DAXX 6p21.3 death-associated protein 6 LOC346177 6p21.31 similar to myosin:SUBUNIT=regulatory light chain LYPLA2P1 6p21.31 lysophospholipase II pseudogene 1 KIFC1 6p21.3 kinesin family member C1 PHF1 6p21.3 PHD finger protein 1 C6orf82 6pter-p21.31 chromosome 6 open reading frame 82 MGC23166 BAK1 6p21.3 BCL2-antagonist/killer 1 ITPR3 6p21 inositol 1,4,5-triphosphate receptor, type 3 C6orf125 6p21.31 chromosome 6 open reading frame 125 IHPK3 6p2131-p21.2 inositol hexaphosphate kinase 3 LEMD2 6p21.31 LEM domain containing 2 MLN 6p21.3 motilin GRM4 6p21.3 glutamate receptor, metabotropic 4
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 2957 - 503 - 2009 19720741
  • isoform 1
  • 8 - 2376 - 201 - 2009 19720741
  • isoform 2
  • 9 - 2541 - 370 - 2009 19720741
    9 - 2546 - 201 - 2009 19720741
    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
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCC10 , PGLS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
  • mutation in LEMD2 may cause muscle diseases (Huber 2009)
  • Marker
    Therapy target
    ANIMAL & CELL MODELS