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

LMNB2 Gene

protein-coding   GIFtS: 64
GCID: GC19M002428

Lamin B2


(Previous symbol: LMN2)
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 B21 2
LMN21 2 3 5
LAMB22
lamin-B22

External Ids:    HGNC: 66381   Entrez Gene: 848232   Ensembl: ENSG000001766197   OMIM: 1503415   UniProtKB: Q032523   

Export aliases for LMNB2 gene to outside databases

Previous GC identifers: GC19U990060 GC19M002498 GC19M002368 GC19M002379 GC19M002200


(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 LMNB2 Gene:
This gene encodes a B type nuclear lamin. 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. Mutations in this gene are associated with acquired
partial lipodystrophy. (provided by RefSeq, May 2012)

GeneCards Summary for LMNB2 Gene: 
LMNB2 (lamin B2) is a protein-coding gene. Diseases associated with LMNB2 include reynolds syndrome, and pelger-huet anomaly, and among its related super-pathways are Apoptosis and survival FAS signaling cascades and Granzyme-B Pathway. GO annotations related to this gene include structural molecule activity and molecular_function. An important paralog of this gene is LMNB1.

UniProtKB/Swiss-Prot: LMNB2_HUMAN, Q03252
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




(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_000019.9  NC_018930.2  NT_011255.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the LMNB2 gene promoter:
         c-Fos   c-Rel   AP-1   ATF-2   MyoD   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidLMNB2 promoter sequence
   Search SABiosciences Chromatin IP Primers for LMNB2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat LMNB2


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

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

LMNB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
LMNB2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M002428:  view genomic region     (about GC identifiers)

Start:
2,427,636 bp from pter      End:
2,456,994 bp from pter
Size:
29,359 bases      Orientation:
minus 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: LMNB2_HUMAN, Q03252 (See protein sequence)
Recommended Name: Lamin-B2 precursor  
Size: 600 amino acids; 67689 Da
Subunit: Interacts with TMEM43 (By similarity)
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
1 PDB 3D structure from and Proteopedia for LMNB2:
2LLL (3D)    
Secondary accessions: O75292 Q14734 Q96DF6

Explore the universe of human proteins at neXtProt for LMNB2: NX_Q03252

Explore proteomics data for LMNB2 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_Q03252

  • LMNB2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    LMNB2 Protein Expression
    REFSEQ proteins: NP_116126.3  
    ENSEMBL proteins: 
     ENSP00000327054   ENSP00000462730  

    Human Recombinant Protein Products for LMNB2: 
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    Novus Biologicals LMNB2 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for LMNB2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005635nuclear envelope ----
    GO:0005637nuclear inner membrane IEA--
    GO:0005638lamin filament ----
    GO:0005652nuclear lamina NAS--
    GO:0005882intermediate filament IEA--

    LMNB2 for ontologies           About GeneDecksing



    LMNB2 Antibody Products: 
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    ThermoFisher Antibody for LMNB2
    LSBio Antibodies in human, mouse, rat for LMNB2 

    Assay Products for LMNB2: 
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    Cloud-Clone Corp. ELISAs for LMNB2 
    Cloud-Clone Corp. CLIAs for LMNB2


    (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 Q03252

    ProtoNet protein and cluster: Q03252

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


    UniProtKB/Swiss-Prot: LMNB2_HUMAN, Q03252
    Similarity: Belongs to the intermediate filament family


    LMNB2 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: LMNB2_HUMAN, Q03252
    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 LMNB2:
    lamin,type B2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005198structural molecule activity IEA--
         
    LMNB2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for LMNB2:
     Increased S DNA content, incre 

         11 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Lmnb2):
     cellular  craniofacial  embryogenesis  growth/size  homeostasis/metabolism 
     immune system  integument  mortality/aging  muscle  nervous system 
     respiratory system 

    LMNB2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Lmnb2tm1Yxz for LMNB2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for LMNB2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for LMNB2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for LMNB2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for LMNB2 

    miRNA
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    miRTarBase miRNAs that target LMNB2:
    hsa-mir-30a (MIRT005131), hsa-mir-192 (MIRT004852)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMNB2
    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate LMNB2 (see all 35):
    hsa-miR-194* hsa-miR-330-5p hsa-let-7a-2* hsa-miR-449a hsa-miR-3613-3p hsa-miR-326 hsa-miR-186 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidLMNB2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Browse Sino Biological Human cDNA Clones
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNB2


    (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 LMNB2 About   (see all 7)                                                                                              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
    2Granzyme Pathway
    Granzyme Pathway0.42
    Granzyme-B Pathway0.42
    3DREAM Repression and Dynorphin Expression
    Caspase Cascade0.36
    4TWEAK Pathway
    Fas Signaling0.35
    5Gastric cancer network 2
    Gastric cancer network 2

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for LMNB2
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for LMNB2
        Caspase Cascade
    Granzyme-B Pathway
    Granzyme Pathway
    Fas Signaling

    2 Cell Signaling Technology (CST) Pathways for LMNB2
        Apoptosis and Autophagy
    Cytoskeletal Signaling

    2 GeneGo (Thomson Reuters) Pathways for LMNB2
        Apoptosis and survival Caspase cascade
    Apoptosis and survival FAS signaling cascades

    3 BioSystems Pathways for LMNB2
        FAS pathway and Stress induction of HSP regulation
    Gastric cancer network 2
    Caspase cascade in apoptosis



    LMNB2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for LMNB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/22 Interacting proteins for LMNB2 (Q032522, 3 ENSP000003270544) via UniProtKB, MINT, STRING, and/or I2D (see all 22)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCDQ056553, ENSP000003316024I2D: score=2 STRING: ENSP00000331602
    LMNAP025453, ENSP000003572834I2D: score=1 STRING: ENSP00000357283
    TMPOP421663, ENSP000002667324I2D: score=1 STRING: ENSP00000266732
    SVILO954253, ENSP000003481284I2D: score=1 STRING: ENSP00000348128
    BANF1O755313, ENSP000003102754I2D: score=1 STRING: ENSP00000310275
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    LMNB2 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

    LMNB2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for LMNB2

    2 Novoseek inferred chemical compound relationships for LMNB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydrofolate 32.3 1 10577395 (1)
    serine 3 1 15546914 (1)

    Search CenterWatch for drugs/clinical trials and news about LMNB2

    (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 LMNB2 gene: 
    NM_032737.3  

    Unigene Cluster for LMNB2:

    Lamin B2
    Hs.538286  [show with all ESTs]
    Unigene Representative Sequence: NM_032737
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000532465 ENST00000325327(uc002lvy.3) ENST00000475819 ENST00000490554
    ENST00000527409 ENST00000534495 ENST00000582871
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat LMNB2
    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate LMNB2 (see all 35):
    hsa-miR-194* hsa-miR-330-5p hsa-let-7a-2* hsa-miR-449a hsa-miR-3613-3p hsa-miR-326 hsa-miR-186 hsa-miR-3163
    SwitchGear 3'UTR luciferase reporter plasmidLMNB2 3' UTR sequence
    Inhib. RNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for LMNB2
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNB2

    Additional mRNA sequence: 

    AK129641.1 BC006513.2 BC006551.2 BC009267.2 BT007441.1 

    22 DOTS entries:

    DT.100038869  DT.92455928  DT.121414790  DT.97857995  DT.454046  DT.100789803  DT.121414403  DT.95263113 
    DT.95263123  DT.100789807  DT.121414616  DT.95263124  DT.100814691  DT.40116196  DT.95263125  DT.100789815 
    DT.121414673  DT.95324050  DT.121414607  DT.95114992  DT.100814697  DT.445441 

    24/529 AceView cDNA sequences (see all 529):

    BE328143 BM742465 BU728615 BQ230940 AL137615 BU521577 BQ962858 BQ883738 
    BQ073318 CR594022 BM829797 BM458139 BQ068367 BQ937229 AF152352 BQ015233 
    BE797199 BQ422832 BE263735 AI459075 NM_017572 BM757169 BI908100 BU185314 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for LMNB2 (see all 6)    About this scheme

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


    ECgene alternative splicing isoforms for LMNB2

    (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

    LMNB2 expression in normal human tissues (normalized intensities)      LMNB2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTAATGTGT
    LMNB2 Expression
    About this image


    LMNB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/8 selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Nose (Sensory Organs)
             nasopharynx ; respiratory epithelial cells   
     
     Bone (Muscoskeletal System)
             Human fetal bone marrow-derived mesenchymal stromal cells
     
     Uterus (Reproductive System)
             uterus, pre-menopause ; cells in endometrial stroma   
     
     Lung (Respiratory System)
             lung ; pneumocytes   

    See LMNB2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for LMNB2

    SOURCE GeneReport for Unigene cluster: Hs.538286
        SABiosciences Expression via Pathway-Focused PCR Array including LMNB2: 
              TNF Ligands & Receptors in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat LMNB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for LMNB2

    (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 LMNB2 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Lmnb21 , 5 lamin B21, 5 82.52(n)1
    84.43(a)1
      10 (39.72 cM)5
    169071  NM_010722.51  NP_034852.21 
     809012035 
    chicken
    (Gallus gallus)
    Aves LMNB21 lamin B2 74.7(n)
    81.11(a)
      396222  NM_205285.1  NP_990616.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    22(a)
    possible ortholog
    AAWZ02039762(4137-7682)
    African clawed frog
    (Xenopus laevis)
    Amphibia X54099.12   -- 73.88(n)    X54099.1 
    zebrafish
    (Danio rerio)
    Actinopterygii lmnb22 lamin B2 75.94(n)   30196  AJ005936.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta LamC1 Lamin C 51.66(n)
    39.38(a)
      36615  NM_079018.2  NP_523742.2 
    worm
    (Caenorhabditis elegans)
    Secernentea lmn-16
    Lamin-1
    29(a)
    1 → many
    I(8762988-8765633)


    ENSEMBL Gene Tree for LMNB2 (if available)
    TreeFam Gene Tree for LMNB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for LMNB2 gene
    LMNB12  VIM2  INA2  LMNA2  PRPH2  NEFM2  DES2  NEFH2  
    GFAP2  
    10 SIMAP similar genes for LMNB2 using alignment to 2 protein entries:     LMNB2_HUMAN (see all proteins):
    LMNB1    LMNA    DES    KRTHB1    PRPH    KRTHB6
    VIM    K14    KRT4    KRT5

    LMNB2 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

    10/859 SNPs in LMNB2 are shown (see all 859)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363704
    A colorectal cancer sample4--see VAR_0363702 R W mis40--------
    VAR_0310634
    Partial acquired lipodystrophy (APLD)4--see VAR_0310632 R Q mis40--------
    rs575214991,2,4
    CPartial acquired lipodystrophy (APLD)4 other12434027(-) TGTCCA/GCCACC 2 T A mis10--------
    rs2676076501,2
    Cuntested12444544(-) GGTCTC/TCCCAG 1 -- int10--------
    rs1219124971,2
    C,Fother12435150(-) GCGGCG/AGCGGC 2 /Q /R mis12Minor allele frequency- A:0.01NA EU 4867
    rs1858510261,2
    --2429907(+) AGTCAC/GGTGGC 1 -- ut310--------
    rs2017996701,2
    C--2429957(+) CAGAT-/AAAAAG 1 -- ut310--------
    rs2004293281,2
    --2430121(+) AACCA-/GATGTG 1 -- ut310--------
    rs7435781,2
    C,F,A,H--2430232(+) TGGCCT/CTGCAC 1 -- ut3125Minor allele frequency- C:0.41MN NS EA NA WA CSA 2715
    rs752025241,2
    C--2430255(+) AACTGA/CGGGAA 1 -- ut310--------

    HapMap Linkage Disequilibrium report for LMNB2 (2427636 - 2456994 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/15 variations for LMNB2 (see all 15):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1372661CNV Deletion17803354
    esv2717894CNV Deletion23290073
    esv2717892CNV Deletion23290073
    esv2717896CNV Deletion23290073
    esv2717893CNV Deletion23290073
    nsv910655CNV Loss21882294
    dgv3637n71CNV Loss21882294
    nsv910660CNV Loss21882294
    esv23012CNV Loss19812545
    dgv3638n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): LMNB2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing LMNB2
    DNA2.0 Custom Variant and Variant Library Synthesis for LMNB2

    (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: 150341   
    OMIM disorders: 608709  
    UniProtKB/Swiss-Prot: LMNB2_HUMAN, Q03252
  • Partial acquired lipodystrophy (APLD) [MIM:608709]: A rare childhood disease characterized by loss of
    subcutaneous fat from the face and trunk. Fat deposition on the pelvic girdle and lower limbs is normal or
    excessive. Most frequently, onset between 5 and 15 years of age. Most affected subjects are females and some show
    no other abnormality, but many develop glomerulonephritis, diabetes mellitus, hyperlipidemia, and complement
    deficiency. Mental retardation in some cases. APLD is a sporadic disorder of unknown etiology. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 14 diseases for LMNB2:    About MalaCards
    reynolds syndrome    pelger-huet anomaly    lipodystrophy    complement deficiency
    emery-dreifuss muscular dystrophy    progeria    basal cell carcinoma    muscular dystrophy
    glomerulonephritis    mental retardation    schizophrenia    cerebritis
    diabetes mellitus    gastric cancer

    3 diseases from the University of Copenhagen DISEASES database for LMNB2:
    Lipodystrophy     Emery-Dreifuss muscular dystrophy     Pelger-Huet anomaly

    LMNB2 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for LMNB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    partial lipodystrophy 83.6 1 17467691 (1)

    Genetic Association Database (GAD): LMNB2
    Human Genome Epidemiology (HuGE) Navigator: LMNB2 (3 documents)

    Export disorders for LMNB2 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 LMNB2 gene, integrated from 9 sources (see all 110):
    (articles sorted by number of sources associating them with LMNB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The gene for a novel human lamin maps at a highly transcribed locus of chromosome 19 which replicates at the onset of S-phase. (PubMed id 1630457)1, 2, 3, 9 Biamonti G.... Falaschi A. (1992)
    2. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. (PubMed id 16826530)1, 2, 9 Hegele R.A.... Durrington P.N. (2006)
    3. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. S-phase phosphorylation of lamin B2. (PubMed id 8543011)1, 9 Kill I.R. and Hutchison C.J. (1995)
    8. Noncanonical DNA elements in the lamin B2 origin of DNA replication. (PubMed id 15611042)1, 9 Kusic J....Stefanovic D. (2005)
    9. In vitro protein-DNA interactions at the human lamin B2 replication origin. (PubMed id 12902329)1, 9 Stefanovic D....Falaschi A. (2003)
    10. Modular structure of the human lamin B2 replicator. (PubMed id 15024083)1, 9 Paixao S....Biamonti G. (2004)

    (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: 84823 HGNC: 6638 AceView: TIMM13andMKNK2 Ensembl:ENSG00000176619 euGenes: HUgn84823
    ECgene: LMNB2 H-InvDB: LMNB2

    (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 LMNB2 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 LMNB2 gene:
    Search GeneIP for patents involving LMNB2

    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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