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

LMNB1 Gene

protein-coding   GIFtS: 66
GCID: GC05P126112

Lamin B1

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
Lamin B11 2
LMN22 3
LMNB2 3
ADLD2
LMN2
lamin-B12

External Ids:    HGNC: 66371   Entrez Gene: 40012   Ensembl: ENSG000001133687   OMIM: 1503405   UniProtKB: P207003   

Export aliases for LMNB1 gene to outside databases

Previous GC identifers: GC05P125650 GC05P126548 GC05P126143 GC05P126188 GC05P126189 GC05P126140 GC05P121304


(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 LMNB1 Gene:
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane.
The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina
matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be
involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A
and B. This gene encodes one of the two B type proteins, B1. Alternative splicing results in transcript variants
and a duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). (provided
by RefSeq, Oct 2010)

GeneCards Summary for LMNB1 Gene: 
LMNB1 (lamin B1) is a protein-coding gene. Diseases associated with LMNB1 include leukodystrophy, adult-onset, autosomal dominant, and leukodystrophy, and among its related super-pathways are Apoptosis and survival FAS signaling cascades and Mitotic M-M/G1 phases. GO annotations related to this gene include structural molecule activity and phospholipase binding. An important paralog of this gene is VIM.

UniProtKB/Swiss-Prot: LMNB1_HUMAN, P20700
Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner
nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with
chromatin

Gene Wiki entry for LMNB1 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_000005.9  NC_018916.2  NT_034772.6  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LMNB1 gene promoter:
         HOXA9B   HOXA9   AhR   YY1   CREB   deltaCREB   Meis-1a   Pax-4a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLMNB1 promoter sequence
   Search SABiosciences Chromatin IP Primers for LMNB1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LMNB1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5q23.2   Ensembl cytogenetic band:  5q23.2   HGNC cytogenetic band: 5q23.2

LMNB1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LMNB1 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P126112:  view genomic region     (about GC identifiers)

Start:
126,112,315 bp from pter      End:
126,172,712 bp from pter
Size:
60,398 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: LMNB1_HUMAN, P20700 (See protein sequence)
Recommended Name: Lamin-B1 precursor  
Size: 586 amino acids; 66408 Da
Subunit: Homodimer. Interacts with lamin-associated polypeptides IA, IB and 2
Subcellular location: Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side
Miscellaneous: The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the
disintegration and formation of the nuclear envelope in prophase and telophase, respectively
4 PDB 3D structures from and Proteopedia for LMNB1:
2KPW (3D)        3JT0 (3D)        3TYY (3D)        3UMN (3D)    
Secondary accessions: B2R6J6 Q3SYN7 Q96EI6

Explore the universe of human proteins at neXtProt for LMNB1: NX_P20700

Explore proteomics data for LMNB1 at MOPED 

Post-translational modifications:

  • UniProtKB: B-type lamins undergo a series of modifications, such as farnesylation and phosphorylation. Increased
    phosphorylation of the lamins occurs before envelope disintegration and probably plays a role in regulating lamin
    associations
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20700

  • LMNB1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LMNB1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001185486.1  NP_005564.1  

    ENSEMBL proteins: 
     ENSP00000261366   ENSP00000378761  
    Reactome Protein details: P20700
    Human Recombinant Protein Products for LMNB1: 
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    Cloud-Clone Corp. Proteins for LMNB1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005635nuclear envelope TAS--
    GO:0005637nuclear inner membrane IEA--
    GO:0005638lamin filament IEA--
    GO:0005654nucleoplasm TAS--

    LMNB1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IFF5: Intermediate filaments type V, lamins

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F
     IPR001322 Lamin_tail_dom

    Graphical View of Domain Structure for InterPro Entry P20700

    ProtoNet protein and cluster: P20700

    2 Blocks protein domains:
    IPB001322 Intermediate filament
    IPB001664 Intermediate filament protein


    UniProtKB/Swiss-Prot: LMNB1_HUMAN, P20700
    Similarity: Belongs to the intermediate filament family


    LMNB1 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: LMNB1_HUMAN, P20700
    Function: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner
    nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with
    chromatin

         Genatlas biochemistry entry for LMNB1:
    lamin,type B1

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0043274phospholipase binding IEA--
         
    LMNB1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LMNB1:
     Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Lmnb1):
     cellular  craniofacial  embryogenesis  growth/size  integument 
     mortality/aging  muscle  nervous system  respiratory system  skeleton 

    LMNB1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lmnb1tm1Yxz for LMNB1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LMNB1 
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    hsa-miR-569 hsa-miR-4251 hsa-miR-3065-3p hsa-miR-218 hsa-miR-636
    SwitchGear 3'UTR luciferase reporter plasmidLMNB1 3' UTR sequence
    Inhib. RNA
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    (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 LMNB1 About   (see all 14)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades0.44
    FAS pathway and Stress induction of HSP regulation0.44
    Apoptosis and survival Caspase cascade0.44
    Caspase cascade in apoptosis0.42
    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
    4Meiotic Synapsis
    Meiotic Synapsis0.70
    Chromosome Maintenance0.56
    Meiosis0.70
    5Cell Cycle
    Cell Cycle, Mitotic0.84
    Cell Cycle0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for LMNB1
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LMNB1
        Caspase Cascade
    Granzyme-B Pathway
    Granzyme Pathway
    Fas Signaling

    2 Cell Signaling Technology (CST) Pathways for LMNB1
        Apoptosis and Autophagy
    Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for LMNB1
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    2 BioSystems Pathways for LMNB1
        FAS pathway and Stress induction of HSP regulation
    Caspase cascade in apoptosis

    5/18        Reactome Pathways for LMNB1 (see all 18)
        Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin
    Cell Cycle
    M Phase
    Apoptosis



    LMNB1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LMNB1

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

    5/108 Interacting proteins for LMNB1 (P207002, 3 ENSP000002613664) via UniProtKB, MINT, STRING, and/or I2D (see all 108)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHAZP631042, 3MINT-3297843 I2D: score=1 
    PASKQ96RG22, 3, ENSP000002340404MINT-8148997 I2D: score=1 STRING: ENSP00000234040
    LMNAP025453, ENSP000003572834I2D: score=7 STRING: ENSP00000357283
    PRKCBP057713, ENSP000003053554I2D: score=3 STRING: ENSP00000305355
    TMPOP421663, ENSP000002667324I2D: score=3 STRING: ENSP00000266732
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--

    LMNB1 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

    LMNB1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for LMNB1

    7 Novoseek inferred chemical compound relationships for LMNB1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adpribose 48.1 2 19103313 (1)
    etoposide 24.4 2 9846182 (1), 9242521 (1)
    paclitaxel 21.3 2 8853905 (1)
    ionomycin 17.9 3 12851674 (2), 12883646 (1)
    phosphatidylserine 10.5 1 9846182 (1)
    tyrosine 0 1 16547650 (1)
    cysteine 0 2 8798402 (1), 9701026 (1)

    Search CenterWatch for drugs/clinical trials and news about LMNB1

    (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 LMNB1 gene (2 alternative transcripts): 
    NM_001198557.1  NM_005573.3  

    Unigene Cluster for LMNB1:

    Lamin B1
    Hs.89497  [show with all ESTs]
    Unigene Representative Sequence: BC052951
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000460265(uc003kud.2 uc010jdb.2) ENST00000261366(uc011cxb.2)
    ENST00000504788 ENST00000492190 ENST00000472034 ENST00000395354 ENST00000463908
    ENST00000494185 ENST00000512460
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    hsa-miR-569 hsa-miR-4251 hsa-miR-3065-3p hsa-miR-218 hsa-miR-636
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    Additional mRNA sequence: 

    AK303084.1 AK312603.1 BC012295.1 BC052951.1 BC078178.1 BC103723.1 M34458.1 

    13 DOTS entries:

    DT.413756  DT.97781517  DT.100735104  DT.97858787  DT.102823924  DT.207508  DT.100811642  DT.101975662 
    DT.120870098  DT.91654824  DT.95276715  DT.97858788  DT.75167929 

    24/136 AceView cDNA sequences (see all 136):

    BX118127 T27734 AI351040 BU193467 AW237170 BI906235 CR609276 BU509231 
    BP338663 AA974338 CN478984 BM451853 M34458 NM_005573 AI203152 AA911806 
    BQ072722 AW604175 BE082477 BI090669 BM457052 BE908150 BP339477 AA211805 

    GeneLoc Exon Structure


    (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

    LMNB1 expression in normal human tissues (normalized intensities)      LMNB1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAGGGTGG
    LMNB1 Expression
    About this image


    LMNB1 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   
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Tonsil (Hematopoietic System)    fully expand to see all 3 entries
             tonsil ; squamous epithelial cells   

    See LMNB1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LMNB1

    SOURCE GeneReport for Unigene cluster: Hs.89497
        SABiosciences Expression via Pathway-Focused PCR Array including LMNB1: 
              TNF Ligands & Receptors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNB1

    (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 animals.

    Orthologs for LMNB1 gene from 7/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lmnb11 , 5 lamin B11, 5 88.4(n)1
    96.25(a)1
      18 (30.84 cM)5
    169061  NM_010721.21  NP_034851.21 
     567078135 
    chicken
    (Gallus gallus)
    Aves LMNB11 lamin B1 77.38(n)
    79.73(a)
      396223  NM_205286.1  NP_990617.1 
    lizard
    (Anolis carolinensis)
    Reptilia LMNB16
    --
    Uncharacterized protein
    85(a)
    19(a)
    1 ↔ 1
    possible ortholog
    2(29307462-29336927)
    AAWZ02039762(4137-7682)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3979112 lamin L(I) mRNA 75.97(n)    X06344.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lmnb12 lamin B1 77.72(n)   195816  BC044402.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LamC3
    Lam1
    nuclear envelope reassembly3
    Lamin1
    36(a)
    (best of 2)3
    47.74(n)1
    38.08(a)1
      51B13
    337821  NM_057268.41  NP_476616.11 
    worm
    (Caenorhabditis elegans)
    Secernentea lmn-11 , 3 Intermediate filament proteins (2
    domains)3
    Protein LMN-11
    32(a)
    (best of 5)3
    44.68(n)1
    34.43(a)1
      I(8771116-8773244)3
    1726871  NM_059970.31  NP_492371.11 


    ENSEMBL Gene Tree for LMNB1 (if available)
    TreeFam Gene Tree for LMNB1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LMNB1 gene
    VIM2  INA2  LMNA2  PRPH2  NEFM2  DES2  LMNB22  NEFH2  
    GFAP2  
    7 SIMAP similar genes for LMNB1 using alignment to 4 protein entries:     LMNB1_HUMAN (see all proteins):
    LMNB2    LMNA    KRTHB6    PRPH    KRTHB1    DES
    VIM

    LMNB1 for paralogs           About GeneDecksing



    (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

    10/1362 SNPs in LMNB1 are shown (see all 1362)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs37498301,2
    C,F,Huntested1126417916(-) GCTTCA/GTATTC 3 Y syn1 ut5123Minor allele frequency- G:0.05EA NA NS WA EU 9925
    rs617264891,2
    C,Funtested1126424901(+) ACTTCT/CACTGT 4 /S syn12Minor allele frequency- C:0.00NA EU 5871
    rs361053601,2,4
    C,Funtested1126439083(-) CGTTTG/ACAGCC 4 /A /V mis15Minor allele frequency- A:0.02NA EU 5899
    rs22301511,2
    C,F,Huntested1126449367(+) TCTTCC/TTCAAA 2 -- ut318Minor allele frequency- T:0.06MN NS EA WA NA EU 2021
    rs340472091,2
    C--121311170(+) TAACT-/C/CT  
            
    TAAAA
    2 -- int11NA 2
    rs1418708091,2
    C--121315351(+) TATAT-/ATAT  
     ATATATA
    TTTTT
    2 -- int10--------
    rs347117171,2
    C--121316123(+) ACTGG-/CGTAGA 2 -- int10--------
    rs1119305071,2
    C,F--121319906(+) ATTCTC/TTTCTT 2 -- int12Minor allele frequency- T:0.03CSA WA 120
    rs722128081,2
    C--121324593(+) CTTTC-/TTT   
       
    /TTTT
    TTTTT
    2 -- int11CSA 2
    rs345349731,2
    C--121324612(+) TTTTT-/T/TTT 
            
    GAGAT
    4 -- int1 cds11NA 2

    HapMap Linkage Disequilibrium report for LMNB1 (126112315 - 126172712 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for LMNB1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1346080CNV Deletion17803354
    esv2477910CNV Deletion19546169
    esv2658121CNV Deletion23128226
    nsv509084CNV Insertion20534489
    esv21575CNV Loss19812545


    Human Gene Mutation Database (HGMD): LMNB1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LMNB1
    DNA2.0 Custom Variant and Variant Library Synthesis for LMNB1

    (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: 150340   
    OMIM disorders: 169500  
    UniProtKB/Swiss-Prot: LMNB1_HUMAN, P20700
  • Leukodystrophy, demyelinating, autosomal dominant, adult-onset (ADLD) [MIM:169500]: A slowly progressive
    and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically
    characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination
    of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows
    preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/41 diseases for LMNB1 (see all 41):    About MalaCards
    leukodystrophy, adult-onset, autosomal dominant    leukodystrophy    progeria    tethered spinal cord syndrome
    reynolds syndrome    progressive muscular atrophy    emery-dreifuss muscular dystrophy    lipodystrophy
    actinic keratosis    chronic fatigue syndrome    keratosis    muscular dystrophy
    teratocarcinoma    papillary thyroid carcinoma    basal cell carcinoma    muscular atrophy
    burkitt's lymphoma    lupus erythematosus    herpes simplex    colon adenocarcinoma

    2 diseases from the University of Copenhagen DISEASES database for LMNB1:
    Progeria     Progressive muscular atrophy

    LMNB1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10 Novoseek inferred disease relationships for LMNB1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukodystrophy 80.8 11 19961535 (2), 19259393 (2), 17262031 (1), 16951681 (1) (see all 5)
    partial lipodystrophy 79.3 1 17467691 (1)
    progeria 78.8 2 20145110 (1)
    lipodystrophy 47.5 2 20145110 (1)
    muscular dystrophies 45.9 2 20145110 (1)
    erythroleukemia 27.6 1 9989774 (1)
    leukemia 7.11 1 16242777 (1)
    lupus erythematosus systemic 0 1 12384929 (1)
    colon cancer 0 1 10517909 (1)
    cancer 0 1 12534602 (1)

    Genetic Association Database (GAD): LMNB1
    Human Genome Epidemiology (HuGE) Navigator: LMNB1 (4 documents)

    Export disorders for LMNB1 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 LMNB1 gene, integrated from 9 sources (see all 200):
    (articles sorted by number of sources associating them with LMNB1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural organization of the human gene (LMNB1) encoding nuclear lamin B1. (PubMed id 7557986)1, 2, 3, 9 Lin F. and Worman H.J. (1995)
    2. Mutations in the lamin B1 gene are not present in multiple sclerosis. (PubMed id 19348623)1, 4, 9 Brussino A....Brusco A. (2009)
    3. Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. (PubMed id 8838815)1, 3, 9 Wydner K.L....Lawrence J.B. (1996)
    4. Crystal structures of the coil 2B fragment and the glo bular tail domain of human lamin B1. (PubMed id 22265972)1, 2 Ruan J....Zang J. (2012)
    5. In vitro posttranslational modification of lamin B cloned from a human T-cell line. (PubMed id 2325650)1, 2 Pollard K.M....Glass C.A. (1990)
    6. Cell surface expression of intermediate filament proteins vimentin and lamin B1 in human neutrophil spontaneous apoptosis. (PubMed id 16365157)1, 9 Moisan E. and Girard D. (2006)
    7. The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking. (PubMed id 16283426)1, 9 Tunnah D....Morris G.E. (2005)
    8. A carboxyl-terminal interaction of lamin B1 is dependent on the CAAX endoprotease Rce1 and carboxymethylation. (PubMed id 14504265)1, 9 Maske C.P....Vaux D.J. (2003)
    9. Circulating Lamin B1 (LMNB1) biomarker detects early stages of liver cancer in patients. (PubMed id 19522540)1, 9 Sun S....Luk J.M. (2010)
    10. A family with autosomal dominant leukodystrophy linke d to 5q23.2-q23.3 without lamin B1 mutations. (PubMed id 19961535)1, 9 Brussino A....Brusco A. (2010)

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

      Query String
    PubMed
    OMIM
    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: 4001 HGNC: 6637 AceView: LMNB1 Ensembl:ENSG00000113368 euGenes: HUgn4001
    ECgene: LMNB1 H-InvDB: LMNB1

    (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 LMNB1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for LMNB1 gene:
    Search GeneIP for patents involving LMNB1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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