Free for academic non-profit institutions. Other users need a Commercial license

Aliases for LMNB2 Gene

Aliases for LMNB2 Gene

  • Lamin B2 2 3 5
  • LMN2 3 4
  • Lamin B3 3
  • LAMB2 3
  • EPM9 3

External Ids for LMNB2 Gene

Previous HGNC Symbols for LMNB2 Gene

  • LMN2

Previous GeneCards Identifiers for LMNB2 Gene

  • GC19U990060
  • GC19M002498
  • GC19M002368
  • GC19M002379
  • GC19M002200

Summaries for LMNB2 Gene

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 epilepsy, progressive myoclonic, 9 and lipodystrophy, partial, acquired. Among its related pathways are Degradation of the extracellular matrix and Blood-Brain Barrier and Immune Cell Transmigration: Pathways Overview. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is LMNTD1.

UniProtKB/Swiss-Prot for LMNB2 Gene

  • 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.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMNB2 Gene

Genomics for LMNB2 Gene

Regulatory Elements for LMNB2 Gene

Promoters for LMNB2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around LMNB2 on UCSC Golden Path with GeneCards custom track

Genomic Location for LMNB2 Gene

Chromosome:
19
Start:
2,427,638 bp from pter
End:
2,456,996 bp from pter
Size:
29,359 bases
Orientation:
Minus strand

Genomic View for LMNB2 Gene

Genes around LMNB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMNB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMNB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMNB2 Gene

Proteins for LMNB2 Gene

  • Protein details for LMNB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q03252-LMNB2_HUMAN
    Recommended name:
    Lamin-B2
    Protein Accession:
    Q03252
    Secondary Accessions:
    • O75292
    • Q14734
    • Q96DF6

    Protein attributes for LMNB2 Gene

    Size:
    620 amino acids
    Molecular mass:
    69948 Da
    Quaternary structure:
    • Interacts with TMEM43.
    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.
    SequenceCaution:
    • Sequence=AAH06551.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LMNB2 Gene

neXtProt entry for LMNB2 Gene

Proteomics data for LMNB2 Gene at MOPED

Post-translational modifications for LMNB2 Gene

  • 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.
  • Ubiquitination at Lys 57, Lys 61, Lys 103, Lys 130, Lys 150, Lys 255, Lys 265, Lys 278, Lys 306, Lys 496, and Lys 500
  • Modification sites at PhosphoSitePlus

Other Protein References for LMNB2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for LMNB2 (Lamin B2)

No data available for DME Specific Peptides for LMNB2 Gene

Domains & Families for LMNB2 Gene

Gene Families for LMNB2 Gene

HGNC:

Suggested Antigen Peptide Sequences for LMNB2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q03252

UniProtKB/Swiss-Prot:

LMNB2_HUMAN :
  • Contains 1 LTD domain.
  • Belongs to the intermediate filament family.
Domain:
  • Contains 1 LTD domain.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with LMNB2: view

Function for LMNB2 Gene

Molecular function for LMNB2 Gene

GENATLAS Biochemistry:
lamin,type B2
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with LMNB2: view

Human Phenotype Ontology for LMNB2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMNB2 Gene

MGI Knock Outs for LMNB2:

Animal Model Products

miRNA for LMNB2 Gene

miRTarBase miRNAs that target LMNB2

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for LMNB2 Gene

Localization for LMNB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMNB2 Gene

Nucleus inner membrane; Lipid-anchor; Nucleoplasmic side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for LMNB2 Gene COMPARTMENTS Subcellular localization image for LMNB2 gene
Compartment Confidence
nucleus 5
cytoskeleton 3
cytosol 2

Gene Ontology (GO) - Cellular Components for LMNB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IEA --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with LMNB2: view

Pathways & Interactions for LMNB2 Gene

genes like me logo Genes that share pathways with LMNB2: view

Interacting Proteins for LMNB2 Gene

Selected Interacting proteins: Q03252-LMNB2_HUMAN for LMNB2 Gene via I2D MINT

Gene Ontology (GO) - Biological Process for LMNB2 Gene

None

No data available for SIGNOR curated interactions for LMNB2 Gene

Drugs & Compounds for LMNB2 Gene

(1) Drugs for LMNB2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for LMNB2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LMNB2: view

Transcripts for LMNB2 Gene

Unigene Clusters for LMNB2 Gene

Lamin B2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for LMNB2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c · 8d ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP1: -
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for LMNB2 Gene

GeneLoc Exon Structure for
LMNB2
ECgene alternative splicing isoforms for
LMNB2

Expression for LMNB2 Gene

mRNA expression in normal human tissues for LMNB2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LMNB2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (8.4) and Retina (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for LMNB2 Gene



SOURCE GeneReport for Unigene cluster for LMNB2 Gene Hs.538286

genes like me logo Genes that share expression patterns with LMNB2: view

Protein tissue co-expression partners for LMNB2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LMNB2 Gene

Orthologs for LMNB2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMNB2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia LMNB2 35
  • 85.59 (n)
  • 87.1 (a)
LMNB2 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LMNB2 35
  • 87.78 (n)
  • 89.1 (a)
LMNB2 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Lmnb2 35
  • 82.29 (n)
  • 84.43 (a)
Lmnb2 16
Lmnb2 36
  • 84 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LMNB2 35
  • 99.44 (n)
  • 99.44 (a)
LMNB2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Lmnb2 35
  • 81.26 (n)
  • 82.03 (a)
oppossum
(Monodelphis domestica)
Mammalia LMNB2 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LMNB2 36
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves LMNB2 35
  • 74.3 (n)
  • 80.3 (a)
LMNB2 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 58 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia lmnb2 35
  • 68.02 (n)
  • 74.87 (a)
zebrafish
(Danio rerio)
Actinopterygii lmnb2 35
  • 71.36 (n)
  • 69.93 (a)
lmnb2 36
  • 69 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3871 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011938 35
  • 40.07 (n)
  • 23.56 (a)
fruit fly
(Drosophila melanogaster)
Insecta LamC 35
  • 51.18 (n)
  • 38.62 (a)
Lam 36
  • 36 (a)
ManyToMany
LamC 36
  • 33 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea ifb-1 35
  • 43.74 (n)
  • 32.86 (a)
lmn-1 36
  • 28 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8283 36
  • 38 (a)
OneToMany
Species with no ortholog for LMNB2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for LMNB2 Gene

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

Paralogs for LMNB2 Gene

Paralogs for LMNB2 Gene

(10) SIMAP similar genes for LMNB2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with LMNB2: view

Variants for LMNB2 Gene

Sequence variations from dbSNP and Humsavar for LMNB2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_031063 Partial acquired lipodystrophy (APLD)
rs57521499 Partial acquired lipodystrophy (APLD) 2,434,029(-) TGTCC(A/G/T)CCACC reference, missense
VAR_036370 A colorectal cancer sample
VAR_074170 Epilepsy, progressive myoclonic 9 (EPM9)
VAR_074171 Partial acquired lipodystrophy (APLD)

Structural Variations from Database of Genomic Variants (DGV) for LMNB2 Gene

Variant ID Type Subtype PubMed ID
nsv910623 CNV Loss 21882294
dgv3636n71 CNV Loss 21882294
dgv3637n71 CNV Loss 21882294
nsv910655 CNV Loss 21882294
dgv3638n71 CNV Loss 21882294
nsv910660 CNV Loss 21882294
dgv3639n71 CNV Loss 21882294
nsv910665 CNV Loss 21882294
nsv910667 CNV Loss 21882294
esv2717892 CNV Deletion 23290073
esv2717893 CNV Deletion 23290073
esv23012 CNV Loss 19812545
esv2717894 CNV Deletion 23290073
esv1372661 CNV Deletion 17803354
esv2717896 CNV Deletion 23290073

Variation tolerance for LMNB2 Gene

Residual Variation Intolerance Score: 33.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.69; 57.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for LMNB2 Gene

HapMap Linkage Disequilibrium report
LMNB2
Human Gene Mutation Database (HGMD)
LMNB2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMNB2 Gene

Disorders for LMNB2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for LMNB2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
epilepsy, progressive myoclonic, 9
  • epilepsy, progressive myoclonic 9
lipodystrophy, partial, acquired
  • apl
lipodystrophy
reynolds syndrome
  • primary biliary cirrhosis, scleroderma, raynaud disease, and telangiectasia
complement deficiency
  • complement deficiency disease
- elite association - COSMIC cancer census association via MalaCards
Search LMNB2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LMNB2_HUMAN
  • Epilepsy, progressive myoclonic 9 (EPM9) [MIM:616540]: An autosomal recessive form of progressive myoclonic epilepsy, a rare disease initially responsive to antiepileptic drugs which over time becomes refractory and can be associated with cognitive decline. EPM9 features include myoclonus, tonic-clonic seizures, ataxia, and psychomotor development. {ECO:0000269 PubMed:25954030}. Note=The disease may be caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:16826530, ECO:0000269 PubMed:22768673}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for LMNB2

Genetic Association Database (GAD)
LMNB2
Human Genome Epidemiology (HuGE) Navigator
LMNB2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LMNB2
genes like me logo Genes that share disorders with LMNB2: view

No data available for Genatlas for LMNB2 Gene

Publications for LMNB2 Gene

  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. (PMID: 1630457) Biamonti G. … Falaschi A. (Mol. Cell. Biol. 1992) 2 3 4 23 67
  2. Characterization of the head-to-tail overlap complexes formed by human lamin A, B1 and B2 "half-minilamin" dimers. (PMID: 20004208) Kapinos L.E. … Herrmann H. (J. Mol. Biol. 2010) 3 23
  3. Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. (PMID: 16826530) Hegele R.A. … Durrington P.N. (Am. J. Hum. Genet. 2006) 3 23
  4. Noncanonical DNA elements in the lamin B2 origin of DNA replication. (PMID: 15611042) Kusic J. … Stefanovic D. (J. Biol. Chem. 2005) 3 23
  5. Ku80 binds to human replication origins prior to the assembly of the ORC complex. (PMID: 15910003) Sibani S. … Zannis-Hadjopoulos M. (Biochemistry 2005) 3 23

Products for LMNB2 Gene

Sources for LMNB2 Gene

Back to Top

Content