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Lmnb2 lamin B2 [ Mus musculus (house mouse) ]

Gene ID: 16907, updated on 8-Feb-2024

Summary

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
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Genomic context

See Lmnb2 in Genome Data Viewer
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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 

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_001347140.1NP_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_010722.5NP_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:42398
    Filament; Intermediate filament protein
    pfam00932
    Location:465569
    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)