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    Lmnb2 lamin B2 [ Mus musculus (house mouse) ]

    Gene ID: 16907, updated on 21-Apr-2024

    Summary

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    Official Symbol
    Lmnb2provided by MGI
    Official Full Name
    lamin B2provided by MGI
    Primary source
    MGI:MGI:96796
    See related
    Ensembl:ENSMUSG00000062075 AllianceGenome:MGI:96796
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Summary
    This gene encodes a protein component of the nuclear lamina, which provides a structural framework for the nuclear envelope. Defects in this gene were found to cause abnormalities in the shape of neurons. This locus represents one of two B-type lamin genes that may be partially, but not entirely, functionally redundant in neuronal development. Loss of both B-type lamin genes in keratinocytes results in ichthyosis and a skin barrier defect leading to dehydration. Alternative transcriptional initiation and splicing results in multiple transcript variants and protein isoforms, including an isoform with a shorter N-terminal rod domain that may function in nuclear envelope remodeling during spermatogenesis. A related pseudogene is found on chromosome 5. [provided by RefSeq, Sep 2017]
    Expression
    Ubiquitous expression in testis adult (RPKM 34.2), CNS E11.5 (RPKM 26.4) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    10 C1; 10 39.72 cM
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 10 NC_000076.7 (80737197..80754079, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 10 NC_000076.6 (80901363..80918245, complement)

    Chromosome 10 - NC_000076.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E6885 Neighboring gene signal peptide peptidase like 2B Neighboring gene transmembrane protease, serine 9 Neighboring gene translocase of inner mitochondrial membrane 13 Neighboring gene STARR-positive B cell enhancer ABC_E721 Neighboring gene STARR-seq mESC enhancer starr_27304 Neighboring gene growth arrest and DNA-damage-inducible 45 beta Neighboring gene ATP synthase subunit f, mitochondrial-like Neighboring gene STARR-seq mESC enhancer starr_27308 Neighboring gene guanine nucleotide binding protein (G protein), gamma 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Changes in nuclear pore numbers control nuclear import and stress response of mouse hearts. Han L, et al. Dev Cell, 2022 Oct 24. PMID 36283391, Free PMC Article
    2. Lamin B2 Levels Regulate Polyploidization of Cardiomyocyte Nuclei and Myocardial Regeneration. Han L, et al. Dev Cell, 2020 Apr 6. PMID 32109383, Free PMC Article
    3. LINCing lamin B2 to neuronal migration: growing evidence for cell-specific roles of B-type lamins. Coffinier C, et al. Nucleus, 2010 Sep-Oct. PMID 21278813, Free PMC Article
    4. Dynamic properties of germ line-specific lamin B3: the role of the shortened rod domain. Schütz W, et al. Eur J Cell Biol, 2005 Jul. PMID 16106909
    5. Nuclear envelope remodeling during mouse spermiogenesis: postmeiotic expression and redistribution of germline lamin B3. Schütz W, et al. Exp Cell Res, 2005 Jul 15. PMID 15950617

    See all (69) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Lamin B2 Levels Regulate Polyploidization of Cardiomyocyte Nuclei and Myocardial Regeneration.
      Title: Lamin B2 Levels Regulate Polyploidization of Cardiomyocyte Nuclei and Myocardial Regeneration.
    2. Data show that lamins B1 and B2 have unique functions and that increased production of one B-type lamin cannot compensate for the loss of the other.
      Title: Do lamin B1 and lamin B2 have redundant functions?
    3. lamins B1 and B2 have unique roles in the developing brain and increased production of one B-type lamin does not fully complement loss of the other.
      Title: Reciprocal knock-in mice to investigate the functional redundancy of lamin B1 and lamin B2.
    4. Lamin B2 may play a key role in nuclear translocation.
      Title: LINCing lamin B2 to neuronal migration: growing evidence for cell-specific roles of B-type lamins.
    5. Lamin B2 is essential for brain development and is important for resistance to nuclear elongation in neurons.
      Title: Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neurons.
    6. study found that embryonic stem cells do not need any lamins for self-renewal and pluripotency; however, B-type lamins are required for proper organogenesis
      Title: Mouse B-type lamins are required for proper organogenesis but not by embryonic stem cells.
    7. Absence of both Lmnb1 and Lmnb2 in keratinocytes has no effect on cell proliferation or the development of skin and hair.
      Title: An absence of both lamin B1 and lamin B2 in keratinocytes has no effect on cell proliferation or the development of skin and hair.
    8. These studies establish an essential function for lamin B2 in neuronal migration and brain development.
      Title: Abnormal development of the cerebral cortex and cerebellum in the setting of lamin B2 deficiency.
    9. Evidence suggests that germ line-specific lamin B3 reduces the stability of the nuclear periphery due to its shortened rod domain.
      Title: Dynamic properties of germ line-specific lamin B3: the role of the shortened rod domain.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (9)  1 citation
    • Endonuclease-mediated (2) 

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables structural constituent of cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables structural constituent of cytoskeleton IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in heterochromatin formation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear envelope organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear migration IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear pore localization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in intermediate filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in lamin filament IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nuclear envelope IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in nuclear lamina IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nuclear lamina IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nuclear membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear periphery IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    lamin-B2
    Names
    lamin B3

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001347140.1 → NP_001334069.1  lamin-B2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks multiple 5' coding exons and contains an alternate 5' UTR and 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2, also known as lamin B3) has a distinct N-terminus and is shorter than isoform 1. This isoform is thought to function in spermatogenesis.
      Source sequence(s)
      AK132671, BC051985
      Consensus CDS
      CCDS83733.1
      UniProtKB/TrEMBL
      Q3V159
      Related
      ENSMUSP00000100969.3, ENSMUST00000105332.3

    2. NM_010722.5 → NP_034852.3  lamin-B2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC051985, BY292126
      Consensus CDS
      CCDS24037.2
      UniProtKB/Swiss-Prot
      P21619, P48680, Q8CGB1
      UniProtKB/TrEMBL
      A0A0R4J0Q5
      Related
      ENSMUSP00000136524.2, ENSMUST00000179022.8
      Conserved Domains (2) summary
      pfam00038
      Location:42 → 398
      Filament; Intermediate filament protein
      pfam00932
      Location:465 → 569
      LTD; Lamin Tail Domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000076.7 Reference GRCm39 C57BL/6J

      Range
      80737197..80754079 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P21619.2 GenPept UniProtKB/Swiss-Prot:P21619

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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