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LMNB1 Gene

protein-coding   GIFtS: 66
GCID: GC05P126112

Lamin B1

  See LMNB1-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)
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Aliases
Lamin B11 2
LMN22 3
LMNB2 3
ADLD2 5
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000005.9  NC_018916.2  NT_034772.7  
Regulatory elements:
   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 Chromatin IP Primers for LMNB1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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
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: 

  • 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
    associations1
  • Ubiquitination2 at Lys49, Lys79, Lys111, Lys134, Lys145, Lys157, Lys182, Lys209, Lys241, Lys261,
                                 Lys271, Lys312, Lys379, Lys389, Lys483, Lys528, Lys532, Lys547
  • Modification sites at PhosphoSitePlus

  • See LMNB1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000261366   ENSP00000378761  
    Reactome Protein details: P20700

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

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     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


    Find genes that share domains with LMNB1           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0043274phospholipase binding IEA--
         
    Find genes that share ontologies with LMNB1           About GenesLikeMe


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

         10 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Lmnb1):
     cellular  craniofacial  embryogenesis  growth/size/body  integument 
     mortality/aging  muscle  nervous system  respiratory system  skeleton 

    Find genes that share phenotypes with LMNB1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for LMNB1: Lmnb1tm1.2Sgy Lmnb1tm1Yxz

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LMNB1
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    hsa-mir-26b-5p (MIRT029849), hsa-mir-101-3p (MIRT027335), hsa-mir-128-3p (MIRT022094), hsa-mir-373-3p (MIRT002510), hsa-mir-320a (MIRT044805), hsa-mir-484 (MIRT042270), hsa-mir-124-3p (MIRT002571), hsa-mir-1 (MIRT023965), hsa-mir-192-5p (MIRT026682), hsa-mir-193b-3p (MIRT041285), hsa-mir-215-5p (MIRT024320)

    Block miRNA regulation of human, mouse, rat LMNB1 using miScript Target Protectors
    5 qRT-PCR Assays for microRNAs that regulate LMNB1:
    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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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    LMNB1_HUMAN, P20700: Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytoskeleton4
    mitochondrion1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    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--

    Find genes that share ontologies with LMNB1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for LMNB1 About   (see all 16)  
    See pathways by source

    SuperPathContained pathways About
    1Apoptosis and survival Caspase cascade
    Apoptosis and survival Caspase cascade0.44
    Caspase cascade in apoptosis0.42
    Apoptosis and survival FAS signaling cascades0.44
    Breakdown of the nuclear lamina0.00
    FAS pathway and Stress induction of HSP regulation0.44
    2Packaging Of Telomere Ends
    Meiotic Synapsis0.66
    Chromosome Maintenance0.62
    DNA Damage/Telomere Stress Induced Senescence0.65
    Formation of Senescence-Associated Heterochromatin Foci (SAHF)0.00
    3Cell Cycle, Mitotic
    Cell Cycle, Mitotic0.90
    M Phase0.62
    Cell Cycle0.90
    4Nuclear Envelope Reassembly
    Nuclear Envelope Reassembly
    Initiation of Nuclear Envelope Reformation0.00
    Clearance of Nuclear Envelope Membranes from Chromatin0.00
    5Mitotic Metaphase and Anaphase
    Mitotic Anaphase0.94
    Mitotic Metaphase and Anaphase0.93


    Find genes that share SuperPaths with LMNB1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 Downloadable PowerPoint Slides of GeneGlobe 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

    Selected Reactome Pathways for LMNB1 (see all 6)
        Breakdown of the nuclear lamina
    Initiation of Nuclear Envelope Reformation
    Clearance of Nuclear Envelope Membranes from Chromatin
    Meiotic synapsis
    Formation of Senescence-Associated Heterochromatin Foci (SAHF)


        Pathway & Disease-focused RT2 Profiler PCR Array including LMNB1: 
              TNF Ligands & Receptors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for LMNB1

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

    Selected Interacting proteins for LMNB1 (P207002, 3 ENSP000002613664) via UniProtKB, MINT, STRING, and/or I2D (see all 141)
    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:    About this table

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

    Find genes that share ontologies with LMNB1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with LMNB1           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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
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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
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      QuantiFast Probe-based Assays in human, mouse, rat LMNB1

    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 

    Selected AceView cDNA sequences (see all 136):

    CN478984 BX118127 BM451853 AI203152 BU193467 BU509231 AA911806 NM_005573 
    M34458 AI351040 BI906235 CR609276 AW237170 BP338663 T27734 AA974338 
    AU134245 BE082477 AL540013 AL515082 BX344720 BE908150 AA211805 BG261333 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    LMNB1 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Mesencephalic Ventricular Zone
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    LMNB1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LMNB1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.89497
        Pathway & Disease-focused RT2 Profiler PCR Array including LMNB1: 
              TNF Ligands & Receptors in human mouse rat

    Primer
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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for LMNB1 gene from Selected species (see all 16)    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 77.21(n)
    79.55(a)
      396223  NM_205286.1  NP_990617.1 
    lizard
    (Anolis carolinensis)
    Reptilia LMNB16
    lamin B1
    32(a)
    1 ↔ 1
    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 nuclear envelope reassembly 36(a)
    (best of 2)
      51B1   --
    worm
    (Caenorhabditis elegans)
    Secernentea lmn-11 , 3 Intermediate filament proteins (2
    domains)3
    lmn-11
    32(a)
    (best of 5)3
    44.75(n)1
    34.82(a)1
      I(8771116-8773244)3
    1726871  NM_059970.41  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)
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    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    DES    KRTHB1
    VIM

    Find genes that share paralogs with LMNB1           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for LMNB1 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 5 diseases for LMNB1:    
    About MalaCards
    leukodystrophy, adult-onset, autosomal dominant    leukodystrophy    progeria    reynolds syndrome
    progressive muscular atrophy

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

    Find genes that share disorders with LMNB1           About GenesLikeMe

    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)
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    PubMed articles for LMNB1 gene, integrated from 10 sources (see all 207):
    (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. (Genomics 1995)
    2. Mutations in the lamin B1 gene are not present in multiple sclerosis. (PubMed id 19348623)1, 4, 9 Brussino A....Brusco A. (Eur. J. Neurol. 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. (Genomics 1996)
    4. Crystal structures of the coil 2B fragment and the globular tail domain of human lamin B1. (PubMed id 22265972)1, 2 Ruan J.... Zang J. (FEBS Lett. 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. (Mol. Cell. Biol. 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. (J. Leukoc. Biol. 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. (J. Mol. Histol. 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. (J. Cell Biol. 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. (J. Proteome Res. 2010)
    10. A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. (PubMed id 19961535)1, 9 Brussino A....Brusco A. (Eur. J. Neurol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 4001 HGNC: 6637 AceView: LMNB1 Ensembl:ENSG00000113368 euGenes: HUgn4001
    ECgene: LMNB1 H-InvDB: LMNB1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    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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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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