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    LMNB2 lamin B2 [ Homo sapiens (human) ]

    Gene ID: 84823, updated on 19-Sep-2024

    Summary

    Official Symbol
    LMNB2provided by HGNC
    Official Full Name
    lamin B2provided by HGNC
    Primary source
    HGNC:HGNC:6638
    See related
    Ensembl:ENSG00000176619 MIM:150341; AllianceGenome:HGNC:6638
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EPM9; LMN2; LAMB2; MCPH27
    Summary
    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]
    Expression
    Ubiquitous expression in placenta (RPKM 13.1), colon (RPKM 11.1) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See LMNB2 in Genome Data Viewer
    Location:
    19p13.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (2428166..2456959, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (2403957..2432750, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (2428164..2456957, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene transmembrane serine protease 9 Neighboring gene uncharacterized LOC124904612 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2426331-2427074 Neighboring gene origin of replication adjacent to lamin B2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2427075-2427820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13685 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2433582-2434270 Neighboring gene translocase of inner mitochondrial membrane 13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2441143-2441644 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2441645-2442144 Neighboring gene microRNA 7108 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2452980-2453594 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2453595-2454209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2454266-2454976 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:2454977-2455685 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9789 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9790 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9791 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9792 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9793 Neighboring gene long intergenic non-protein coding RNA 1775 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13686 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9795 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13687 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2476197-2476784 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:2476785-2477374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13691 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13692 Neighboring gene growth arrest and DNA damage inducible beta

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Purified HIV-1 Tat has been shown to bind with high affinity to the nuclear matrix from H9 cells and to link viral RNAs to the nuclear matrix PubMed
    Vpr vpr A stable-isotope labeling by amino acids in cell culture coupled with mass spectrometry-based proteomics identifies downregulation of lamin B2 (LMNB2) expression by HIV-1 Vpr in Vpr transduced macrophages PubMed
    vpr HIV-1 Vpr co-localizes with lamin B and induces localized disruptions in the normal nuclear lamin architecture, contributing to the formation of nuclear envelope herniations PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC2721, FLJ26130

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables molecular_function ND
    No biological Data available
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in biological_process ND
    No biological Data available
    more info
     
    involved_in cytoskeleton organization IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in nuclear lamina IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nuclear membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    lamin-B2
    Names
    epididymis secretory sperm binding protein
    lamin B3

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_008355.1 RefSeqGene

      Range
      5002..33795
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032737.4NP_116126.3  lamin-B2

      See identical proteins and their annotated locations for NP_116126.3

      Status: REVIEWED

      Source sequence(s)
      AC011522, AL560944, BC006551
      Consensus CDS
      CCDS12090.2
      UniProtKB/Swiss-Prot
      O75292, Q03252, Q14734, Q96DF6
      UniProtKB/TrEMBL
      A0A384NPH0
      Related
      ENSP00000327054.3, ENST00000325327.4
      Conserved Domains (2) summary
      pfam00038
      Location:45401
      Filament; Intermediate filament protein
      pfam00932
      Location:467576
      LTD; Lamin Tail Domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      2428166..2456959 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      2403957..2432750 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)