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LBR Gene

protein-coding   GIFtS: 65
GCID: GC01M225589

Lamin B Receptor

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)
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Aliases
Lamin B Receptor1 2     PHA2 5
Tudor Domain Containing 181 2     DHCR14B2
Integral Nuclear Envelope Inner Membrane Protein2 3     TDRD182
LMN2R2 3     Lamin-B Receptor2

External Ids:    HGNC: 65181   Entrez Gene: 39302   Ensembl: ENSG000001438157   OMIM: 6000245   UniProtKB: Q147393   

Export aliases for LBR gene to outside databases

Previous GC identifers: GC01M224071 GC01M221406 GC01M221996 GC01M222563 GC01M221895 GC01M223657 GC01M196108


(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 LBR Gene:
The protein encoded by this gene belongs to the ERG4/ERG24 family. It localized in the nuclear envelope inner
membrane and anchors the lamina and the heterochromatin to the membrane. It may mediate interaction between
chromatin and lamin B. Mutations of this gene has been associated with autosomal recessive HEM/Greenberg skeletal
dysplasia. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have
been identified. (provided by RefSeq, Jul 2008)

GeneCards Summary for LBR Gene:
LBR (lamin B receptor) is a protein-coding gene. Diseases associated with LBR include reynolds syndrome, and paranoid personality disorder. GO annotations related to this gene include lamin binding and oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor. An important paralog of this gene is DHCR7.

UniProtKB/Swiss-Prot: LBR_HUMAN, Q14739
Function: Anchors the lamina and the heterochromatin to the inner nuclear membrane

Gene Wiki entry for LBR (Lamin B receptor) 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:
NC_000001.11  NT_167186.2  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the LBR gene promoter:
         c-Fos   AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): LBR promoter sequence
   Search Chromatin IP Primers for LBR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat LBR


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

Entrez Gene cytogenetic band: 1q42.1   Ensembl cytogenetic band:  1q42.12   HGNC cytogenetic band: 1q42.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M225589:  view genomic region     (about GC identifiers)

Start:
225,589,204 bp from pter      End:
225,616,627 bp from pter
Size:
27,424 bases      Orientation:
minus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: LBR_HUMAN, Q14739 (See protein sequence)
Recommended Name: Lamin-B receptor  
Size: 615 amino acids; 70703 Da
Subunit: Interacts directly with CBX5. Can interact with chromodomain proteins. Interacts directly with DNA.
Interaction with DNA is sequence independent with higher affinity for supercoiled and relaxed circular DNA than
linear DNA
Sequence caution: Sequence=BAD92751.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for LBR:
2DIG (3D)    
Secondary accessions: B2R5P3 Q14740 Q53GU7 Q59FE6

Explore the universe of human proteins at neXtProt for LBR: NX_Q14739

Explore proteomics data for LBR at MOPED

Post-translational modifications: 

  • Phosphorylated by CDK1 in mitosis when the inner nuclear membrane breaks down into vesicles that dissociate from
    the lamina and the chromatin. It is phosphorylated by different protein kinases in interphase when the membrane
    is associated with these structures. Phosphorylation of LBR and HP1 proteins may be responsible for some of the
    alterations in chromatin organization and nuclear structure which occur at various times during the cell cycle.
    Phosphorylated by SRPK1. In late anaphase LBR is dephosphorylated, probably by PP1 and/or PP2A, allowing
    reassociation with chromatin1
  • Ubiquitination2 at Lys107, Lys116, Lys123, Lys190, Lys601
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_002287.2  NP_919424.1  

    ENSEMBL proteins: 
     ENSP00000272163   ENSP00000415428   ENSP00000397817   ENSP00000388059   ENSP00000416554  
     ENSP00000339883  
    Reactome Protein details: Q14739

    LBR Human Recombinant Protein Products:

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    Novus Biologicals LBR Protein
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    Cloud-Clone Corp. Proteins for LBR

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    LBR Assay Products:

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    Cloud-Clone Corp. CLIAs for LBR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TDRD: Tudor domain containing

    4 InterPro protein domains:
     IPR018083 Sterol_reductase_CS
     IPR019023 Lamin-B_rcpt_of_tudor
     IPR001171 Ergosterol_biosynth_ERG4_ERG24
     IPR002999 Tudor

    Graphical View of Domain Structure for InterPro Entry Q14739

    ProtoNet protein and cluster: Q14739

    3 Blocks protein domains:
    IPB001171 ERG4/ERG24 ergosterol biosynthesis protein
    IPB002999 Tudor domain
    IPB011024 Gamma-crystallin related


    UniProtKB/Swiss-Prot: LBR_HUMAN, Q14739
    Domain: The Tudor domain may not recognize methylation marks, but rather bind unassembled free histone H3 (By
    similarity)
    Similarity: Belongs to the ERG4/ERG24 family
    Similarity: Contains 1 Tudor domain


    LBR 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: LBR_HUMAN, Q14739
    Function: Anchors the lamina and the heterochromatin to the inner nuclear membrane

         Genatlas biochemistry entry for LBR:
    lamin B receptor,integral protein of the nuclear enveloppe inner membrane,binding the lamina to chr
    hetrerochromatin,ubiquitously expressed,LAP2 (lamina-associated protein 2) family

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0004671protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity ----
    GO:0005515protein binding IPI8663349
    GO:0005521lamin binding TAS8157662
    GO:0016628oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor IEA--
         
    LBR for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LBR:
     Lamellipodia cells 

         Selected MGI mutant phenotypes (inferred from 8 alleles(MGI details for Lbr) (see all 19):
     adipose tissue  behavior/neurological  cellular  craniofacial  digestive/alimentary 
     endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  mortality/aging  nervous system  no phenotypic analysis 

    LBR for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for LBR
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LBR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LBR

    miRNA
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    miRTarBase miRNAs that target LBR:
    hsa-let-7d-5p (MIRT032162), hsa-mir-130b-3p (MIRT020277), hsa-mir-148a-3p (MIRT026004), hsa-mir-27a-3p (MIRT028716), hsa-mir-19b-3p (MIRT031247), hsa-mir-196a-5p (MIRT026051), hsa-mir-421 (MIRT039426), hsa-mir-484 (MIRT041836), hsa-mir-24-3p (MIRT030542), hsa-let-7b-5p (MIRT032443), hsa-mir-186-5p (MIRT021190), hsa-mir-182-5p (MIRT047214), hsa-mir-181a-5p (MIRT025202), hsa-mir-128-3p (MIRT022092), hsa-mir-340-5p (MIRT019632), hsa-mir-23b-3p (MIRT046348), hsa-mir-101-3p (MIRT027366)

    Block miRNA regulation of human, mouse, rat LBR using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate LBR (see all 35):
    hsa-miR-4307 hsa-let-7d hsa-miR-429 hsa-let-7g hsa-let-7a hsa-miR-23a hsa-miR-200b hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidLBR 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat LBR

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat LBR

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LBR


    (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
    LBR_HUMAN, Q14739: Nucleus inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion4
    plasma membrane3
    endoplasmic reticulum2
    cytoskeleton1
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope TAS--
    GO:0005639integral component of nuclear inner membrane TAS8157662
    GO:0005739mitochondrion IDA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IDA15698635

    LBR for ontologies           About GeneDecksing


    (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 LBR About    
    See pathways by source

    SuperPathContained pathways About
    1superpathway of cholesterol biosynthesis
    superpathway of cholesterol biosynthesis0.85
    zymosterol biosynthesis0.00
    Cholesterol biosynthesis0.85
    cholesterol biosynthesis I0.00
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)0.59
    cholesterol biosynthesis III (via desmosterol)0.00
    2Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37
    3Gastric cancer network 2
    Gastric cancer network 2

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected BioSystems Pathways for LBR (see all 6)
        Gastric cancer network 2
    zymosterol biosynthesis
    cholesterol biosynthesis I
    superpathway of cholesterol biosynthesis
    cholesterol biosynthesis II (via 24,25-dihydrolanosterol)

    1 Reactome Pathway for LBR
        Cholesterol biosynthesis



    LBR for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for LBR
    Interactions:

        GeneGlobe Interaction Network for LBR

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

    Selected Interacting proteins for LBR (Q147391, 2, 3 ENSP000002721634) via UniProtKB, MINT, STRING, and/or I2D (see all 131)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST2H4AP628053, ENSP000003581624I2D: score=1 STRING: ENSP00000358162
    HIST1H4AP628053I2D: score=1 
    HIST1H4BP628053I2D: score=1 
    HIST1H4CP628053I2D: score=1 
    HIST1H4DP628053I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006481C-terminal protein methylation ----
    GO:0006695cholesterol biosynthetic process TAS--
    GO:0044281small molecule metabolic process TAS--

    LBR for ontologies           About GeneDecksing



    (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
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for LBR

    Selected Novoseek inferred chemical compound relationships for LBR gene (see all 90)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    con a 68.7 32 2054070 (3), 1997001 (3), 16286849 (2), 1657242 (2) (see all 23)
    ionomycin 66.9 36 8299228 (3), 8098667 (3), 8586487 (3), 11841833 (2) (see all 22)
    thymidine 63 41 1974593 (1), 8288318 (1), 10981527 (1), 2111191 (1) (see all 37)
    okt3 62.4 23 2121373 (3), 1850412 (2), 1720644 (2), 7851005 (2) (see all 14)
    3beta-hydroxysterol 56.8 7 16784888 (3)
    phorbol 12,13-dibutyrate 43.7 14 8299228 (2), 8402922 (2), 16568834 (2), 7593202 (1) (see all 6)
    cyclosporin a 31.9 21 2129797 (2), 10024969 (2), 11286127 (1), 8559498 (1) (see all 11)
    calcium 26.3 50 7800684 (2), 7829128 (2), 1827986 (2), 8299228 (2) (see all 33)
    sterol 25.7 16 9630650 (3), 19940018 (3), 9878250 (2), 12618959 (2) (see all 6)
    sodium arsenite 23.2 3 7826813 (1), 8239717 (1), 7505101 (1)



    LBR for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for LBR gene (2 alternative transcripts): 
    NM_002296.3  NM_194442.2  

    Unigene Cluster for LBR:

    Lamin B receptor
    Hs.435166  [show with all ESTs]
    Unigene Representative Sequence: NM_002296
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000272163(uc001hoy.3) ENST00000441022 ENST00000424022 ENST00000487054
    ENST00000425080 ENST00000488632 ENST00000421383 ENST00000338179(uc001hoz.3)

    Congresses - knowledge worth sharing:
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Selected qRT-PCR Assays for microRNAs that regulate LBR (see all 35):
    hsa-miR-4307 hsa-let-7d hsa-miR-429 hsa-let-7g hsa-let-7a hsa-miR-23a hsa-miR-200b hsa-miR-181b
    SwitchGear 3'UTR luciferase reporter plasmidLBR 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat LBR
      QuantiFast Probe-based Assays in human, mouse, rat LBR

    Additional mRNA sequence: 

    AB209514.1 AK222834.1 AK303589.1 AK312258.1 BC020079.1 L25931.1 

    14 DOTS entries:

    DT.87017006  DT.86843514  DT.95196450  DT.92002360  DT.87017009  DT.100817668  DT.95313391  DT.100692097 
    DT.100641937  DT.100817675  DT.91764211  DT.95196448  DT.95196451  DT.87017008 

    Selected AceView cDNA sequences (see all 310):

    AI161010 BQ018194 BQ425976 CB135394 BU629100 AL601685 AA737173 AI805399 
    AW590073 CD300571 AA318370 CB156205 AA304907 CA390899 AI961385 AW515091 
    BU682707 AW473042 AA442507 NM_002296 AW768253 NM_194442 AA911167 BU176075 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for LBR (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b
    SP1:                          -                                                                       -                           
    SP2:                                                                                      -                                       
    SP3:        -     -           -                                                                                                   
    SP4:                          -                                                                                                   
    SP5:                                                                                                                              


    ECgene alternative splicing isoforms for LBR

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


    LBR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Bone (Muscoskeletal System)
             Bone Marrow
    LBR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    LBR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435166
        Custom PCR Arrays for LBR
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    QuantiFast Probe-based Assays in human, mouse, rat LBR
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LBR

    (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 and fungi.

    Orthologs for LBR gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lbr1 , 5 lamin B receptor1, 5 79.19(n)1
    80(a)1
      1 (84.89 cM)5
    983861  NM_133815.21  NP_598576.21 
     1818153165 
    chicken
    (Gallus gallus)
    Aves LBR1 lamin B receptor 68.07(n)
    68.57(a)
      396285  NM_205342.1  NP_990673.1 
    lizard
    (Anolis carolinensis)
    Reptilia LBR6
    lamin B receptor
    56(a)
    1 ↔ 1
    1(252035529-252061756)
    African clawed frog
    (Xenopus laevis)
    Amphibia lbr-A2 lamin B receptor 75.5(n)    Y17842.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AI979387.12   -- 73.71(n)   368360  AI979387.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LBR1 Lamin B receptor 41.11(n)
    28.54(a)
      37482  NM_166485.1  NP_726115.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERG24(YNL280C)4
    ERG241
    C-14 sterol reductase, acts in ergosterol biosynthesis; mutants accumulate the abnormal sterol ignosterol (ergosta-8,14 dienol), and are viable under anaerobic growth conditions but inviable on rich medium under aerobic conditions less4
    ERG241
    50.66(n)1
    43.78(a)1
      14(110411-109095)4
    8554411, 4  NP_014119.11, 4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for LBR gene
    DHCR72  TM7SF22  
    2 SIMAP similar genes for LBR using alignment to 5 protein entries:     LBR_HUMAN (see all proteins):
    TM7SF2    DHCR7

    LBR 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), 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 LBR (see all 685)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0178424
    Pelger-Huet anomaly (PHA)4--see VAR_0178422 P R mis40--------
    VAR_0638114
    Reynolds syndrome (REYNS)4--see VAR_0638112 R C mis40--------
    VAR_0178414
    Pelger-Huet anomaly (PHA)4--see VAR_0178412 P L mis40--------
    rs2001801131,2
    Cpathogenic1232394118(+) TTCACA/GGCCAA 4 R C mis10--------
    rs2005780821,2
    --196115827(+) AAGTC-/AAAATTT 2 -- int10--------
    rs357413441,2
    C--196126979(+) AAAAAA/-CAACT 2 -- int11Minor allele frequency- -:0.00NA 2
    rs3777608891,2
    C--225596863(+) AGTCA-/ATATTTG 2 -- int10--------
    rs3697277501,2
    C--225596864(+) GTCAA-/ATTTTGA 2 -- int10--------
    rs106812951,2
    C--225596865(+) TCAAT-/A/AT  
            
    TTGAA
    2 -- int11NA 2
    rs1125326071,2
    C,F--225607906(+) ACTTCG/AGAAGC 2 -- int11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for LBR (225589204 - 225616627 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for LBR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832714CNV Loss17160897

    Human Gene Mutation Database (HGMD): LBR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing LBR
    DNA2.0 Custom Variant and Variant Library Synthesis for LBR

    (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.)
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    OMIM gene information: 600024   
    OMIM disorders: 169400  215140  613471  
    UniProtKB/Swiss-Prot: LBR_HUMAN, Q14739
  • Pelger-Huet anomaly (PHA) [MIM:169400]: An autosomal dominant inherited abnormality of granulocytes,
    characterized by abnormal ovoid shape, reduced nuclear segmentation and an apparently looser chromatin structure.
    Some individuals occasionally have skeletal anomalies, developmental delay, and seizures. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM) [MIM:215140]: Rare autosomal recessive
    chondrodystrophy characterized by early in utero lethality and, therefore, considered to be nonviable. Affected
    fetuses typically present with fetal hydrops, short-limbed dwarfism, and a marked disorganization of
    chondro-osseous calcification and may present with polydactyly and additional nonskeletal malformations. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Reynolds syndrome (REYNS) [MIM:613471]: A syndrome specifically associating limited cutaneous systemic
    sclerosis and primary biliary cirrhosis. It is characterized by liver disease, telangiectasia, abrupt onset of
    digital paleness or cyanosis in response to cold exposure or stress (Raynaud phenomenon), and variable features
    of scleroderma. The liver disease is characterized by pruritis, jaundice, hepatomegaly, increased serum alkaline
    phosphatase and positive serum mitochondrial autoantibodies, all consistent with primary biliary cirrhosis.
    Note=The disease may be caused by mutations affecting the gene represented in this entry

  • Selected diseases for LBR (see all 112):    
    About MalaCards
    reynolds syndrome    paranoid personality disorder    pelger-huet anomaly    viral hemorrhagic fever
    skeletal dysplasias    lymphocytes absent    hydrops, ectopic calcification, moth-eaten skeletal dysplasia    interferon gamma, receptor 1, deficiency
    localized ewing's sarcoma    t-lymphocytopenia    large granular lymphocyte leukemia    t-cell large granular lymphocyte leukemia
    newcastle disease    schizotypal personality disorder    progressive multifocal leukoencephalopathy    toxic shock syndrome
    chronic fatigue syndrome    lymphopenia    phenylketonuria    measles

    6 diseases from the University of Copenhagen DISEASES database for LBR:
    Metabolic acidosis     Pelger-Huet anomaly     Paranoid personality disorder     Schizotypal personality disorder
    Primary biliary cirrhosis     Emery-Dreifuss muscular dystrophy

    LBR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for LBR gene (see all 63)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pelger-huet anomaly 74.1 5 14617022 (2), 12618959 (1), 15724491 (1)
    necrosis 46.3 23 9698426 (1), 11729831 (1), 18288269 (1), 9020407 (1) (see all 23)
    tetanus 41.3 14 1643425 (2), 8223849 (1), 11357954 (1), 10744782 (1) (see all 12)
    immunodeficiency 38.5 4 8658055 (1), 9588845 (1), 7532407 (1), 9311806 (1)
    biliary cirrhosis primary 35.7 5 20522425 (1), 7515343 (1), 8425102 (1), 8157662 (1) (see all 5)
    lymphopenia 35.1 1 8761000 (1)
    skeletal dysplasia 27.6 4 16784888 (1), 18382993 (1), 19940018 (1)
    rheumatoid arthritis 20 3 1393371 (1), 7821975 (1), 2113447 (1)
    leukemia 19.1 8 8640841 (2), 1693168 (1), 10077340 (1), 7691315 (1) (see all 6)
    dermatitis atopic 18.2 5 1531123 (2), 10981527 (1)

    Genetic Association Database (GAD): LBR
    Human Genome Epidemiology (HuGE) Navigator: LBR (3 documents)

    Export disorders for LBR 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 LBR gene, integrated from 10 sources (see all 594):
    (articles sorted by number of sources associating them with LBR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human gene encoding LBR, an integral protein of the nuclear envelope inner membrane. (PubMed id 8157663)1, 2, 3 Schuler E.... Worman H.J. (J. Biol. Chem. 1994)
    2. Primary structure analysis and lamin B and DNA binding of human LBR, an integral protein of the nuclear envelope inner membrane. (PubMed id 8157662)1, 2, 9 Ye Q. and Worman H.J. (J. Biol. Chem. 1994)
    3. Lamin B-receptor mutations in Pelger-Huet anomaly. (PubMed id 14617022)1, 2, 9 Best S....Rees D.C. (Br. J. Haematol. 2003)
    4. The human lamin B receptor/sterol reductase multigene family. (PubMed id 9878250)1, 3, 9 Holmer L.... Worman H.J. (Genomics 1998)
    5. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. (PubMed id 12618959)1, 2, 9 Waterham H.R.... Oosterwijk J.C. (Am. J. Hum. Genet. 2003)
    6. Inner nuclear membrane protein LBR preferentially interacts with DNA secondary structures and nucleosomal linker. (PubMed id 10828963)1, 2, 9 Duband-Goulet I. and Courvalin J.-C. (Biochemistry 2000)
    7. Domain-specific interactions of human HP1-type chromodomain proteins and inner nuclear membrane protein LBR. (PubMed id 9169472)1, 2, 9 Ye Q.... Worman H.J. (J. Biol. Chem. 1997)
    8. Temporal control of nuclear envelope assembly by phosphorylation of lamin B receptor. (PubMed id 21795390)1, 2 Tseng L.C. and Chen R.H. (Mol. Biol. Cell 2011)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. The mammalian heterochromatin protein 1 binds diverse nuclear proteins through a common motif that targets the chromoshadow domain. (PubMed id 15882967)1, 2 Lechner M.S.... Rauscher F.J. III (Biochem. Biophys. Res. Commun. 2005)

    (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: 3930 HGNC: 6518 AceView: LBR Ensembl:ENSG00000143815 euGenes: HUgn3930
    ECgene: LBR H-InvDB: LBR

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for LBR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=LBR[genesymbol]

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

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



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