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FLASH GENE
Symbol LMNB2 contributors: mct/npt - updated : 26/11/2008
HGNC name lamin B2
HGNC id 6638
Corresponding disease
LPPA lipodystrophy, partial, acquired
Location 19p13.3      Physical location : 2.428.164 - 2.456.958
Synonym symbol(s) LAM2, LAMB2, LMN2, MGC2721
DNA
TYPE functioning gene
SPECIAL FEATURE opposite orientation
text
  • a replication origin in the 3'utr
  • head-to-tail orientation with the gene for the translocase of inner mitochondrial membrane 13 homolog gene
  • STRUCTURE 28.80 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map pter - D19S437 - D19S313 - CDC34 - D19S20 - BSG - D19S340 - D19S5373 - ELA2 ,D19S466 - GPX4 - POLR2E - D19S465 - RPS15 - D19S347 - AMH - OAZ1 - LMNB2 - ZNF57 - D19S591 - GNA11 ,D19S120 - GNA15 - D19S424 - D19S467 - cen
    Authors de Stanchina (97)
    Physical map
    LOC390874 19 similar to onecut 3 ATP8B3 19p13.3 ATPase, Class I, type 8B, member 3 EloA-BP1 KLF16 19p13.3 Kruppel-like factor 16 MGC5244 19p13.3 hypothetical protein MGC5244 SCAMP-4 19p13.3 secretory carrier membrane protein 4 LOC113179 19p13.3 hypothetical protein BC011824 MGC39696 19p13.3 hypothetical protein MGC39696 CSNK1G2 19p13.3 casein kinase 1, gamma 2 BTBD2 19p13.3 BTB (POZ) domain containing 2 MKNK2 19p13.3 MAP kinase-interacting serine/threonine kinase 2 moblak IMAGE:4215339 19p13.3 hypothetical protein IMAGE:4215339 AP3D1 19p13.3 adaptor-related protein complex 3, delta 1 subunit DOT1L 19p13.3 adaptor-related protein complex 3, delta 1 subunit SF3A2 19p13.3 splicing factor 3a, subunit 2, 66kDa GNRPX 19p13.3 likely ortholog of mouse guanine nucleotide releasing protein x AMH 19p13.3 anti-Mullerian hormone FLJ32416 19p13.3 homolog of mouse skeletal muscle sarcoplasmic reticulum protein JP-45 OAZ1 19p13.3 ornithine decarboxylase antizyme 1 FLJ45778 19p13.3 FLJ45778 protein LOC388489 19 hypothetical gene supported by AK091795 LSM7 19p13.3 LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) SPPL2B 19p13.3 LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae) LOC360200  polyserase 1 TIMM13 19p13.3 translocase of inner mitochondrial membrane 13 homolog (yeast) LMNB2 19p13.3 lamin B2 GADD45B 19p13.3 growth arrest and DNA-damage-inducible, beta FLJ00058 19p13.3 hypothetical protein FLJ00058 GNG7 19p13.3 guanine nucleotide binding protein (G protein), gamma 7 LOC390875 19 similar to fos39347_1 DIRAS1 19p13.3 DIRAS family, GTP-binding RAS-like 1 LOC388490 19 LOC388490 SLC39A3 19p13.3 solute carrier family 39 (zinc transporter), member 3 SGTA 19p13 small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha THOP1 19p13.3 thimet oligopeptidase 1 FLJ34817 19p13.3 hypothetical protein FLJ34817 MGC26707 19p13.3 hypothetical protein MGC26707 FLJ11637 19p13.3 hypothetical protein FLJ11637 LOC126295 19p13.3 hypothetical protein LOC126295 ZNF77 19p zinc finger protein 77 (pT1)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4653 67.7 600 - Abdurashidova (2007)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinelarge intestinecolon moderately
     salivary gland   highly
    Endocrinepancreas   lowly
     thyroid   moderately
    Lymphoid/Immunelymph node   highly
    Nervousbrain   lowly
    Reproductivemale systemprostate  moderately
    Respiratorylung   highly
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo, fetal, pregnancy
    Text eye, embryonic tissue, umbilical cord
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a N terminal head domain
  • a central rod domain
  • a nuclear localization signal (NLS)
  • a C terminal tail with a CAAX doamin (a farnesyl group is attached to the cystein residue of the &
  • 8722;CAAX box by a farnesyltransferase)Dechat 2008)
    mono polymer homomer , heteromer , tetramer
    HOMOLOGY
    interspecies homolog to rattus Lmnb2 (84.58 pc)
    homolog to murine Lmnb2 (83.53 pc)
    Homologene
    FAMILY
  • intermediate filament family, type V
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,intermed filament
    intracellular,nuclear envelope,int
    intracellular,nuclear envelope,lamina
    basic FUNCTION
  • involved in nuclear stability, chromatin structure and gene expression
  • responsible of DNA replication origin
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • coiled coil dimers associated to form a tetrameric subunit from which IFs assemble
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with TOP1, TOP2A in a cell cycle-modulated manner
  • cell & other
    REGULATION
    Other diassembly at the start and reassembly at the end of mitosis mediated by phosphorylation,dephosphorylation
    ASSOCIATED DISORDERS
    corresponding disease(s) LPPA
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in acquired partial lipodystrophy (Barraquer-Simons syndrome)
    constitutional germinal mutation      
    mutations will be identified in children with severe developmental brain disorders (Coffinier 2010)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Lmnb2&
    8722;/&
    8722; mice had a smaller cerebellum with a complete absence of foliation, and the hippocampus was also abnormal (Coffinier 2010)