This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] See more...

Aliases for LMNB1 Gene

Aliases for LMNB1 Gene

  • Lamin B1 2 3 5
  • Lamin-B1 3 4
  • LMN2 3 4
  • LMNB 3 4
  • MCPH26 3
  • LMNB1 5
  • ADLD 3
  • LMN 3

External Ids for LMNB1 Gene

Previous GeneCards Identifiers for LMNB1 Gene

  • GC05P125650
  • GC05P126548
  • GC05P126143
  • GC05P126188
  • GC05P126189
  • GC05P126140
  • GC05P126112
  • GC05P121304

Summaries for LMNB1 Gene

Entrez Gene Summary for LMNB1 Gene

  • This gene encodes one of the two B-type lamin proteins and is a component of the nuclear lamina. A duplication of this gene is associated with autosomal dominant adult-onset leukodystrophy (ADLD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

GeneCards Summary for LMNB1 Gene

LMNB1 (Lamin B1) is a Protein Coding gene. Diseases associated with LMNB1 include Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant and Microcephaly 26, Primary, Autosomal Dominant. Among its related pathways are Granzyme Pathway and Apoptosis Modulation and Signaling. Gene Ontology (GO) annotations related to this gene include structural molecule activity and phospholipase binding. An important paralog of this gene is LMNB2.

UniProtKB/Swiss-Prot Summary for LMNB1 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.

Gene Wiki entry for LMNB1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LMNB1 Gene

Genomics for LMNB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LMNB1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LMNB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LMNB1

Top Transcription factor binding sites by QIAGEN in the LMNB1 gene promoter:
  • AhR
  • CREB
  • deltaCREB
  • HOXA9
  • HOXA9B
  • Meis-1
  • Meis-1a
  • Pax-4a
  • YY1

Genomic Locations for LMNB1 Gene

Latest Assembly
chr5:126,776,623-126,837,020
(GRCh38/hg38)
Size:
60,398 bases
Orientation:
Plus strand

Previous Assembly
chr5:126,112,315-126,172,712
(GRCh37/hg19 by Entrez Gene)
Size:
60,398 bases
Orientation:
Plus strand

chr5:126,112,315-126,172,712
(GRCh37/hg19 by Ensembl)
Size:
60,398 bases
Orientation:
Plus strand

Genomic View for LMNB1 Gene

Genes around LMNB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMNB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMNB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMNB1 Gene

Proteins for LMNB1 Gene

  • Protein details for LMNB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20700-LMNB1_HUMAN
    Recommended name:
    Lamin-B1
    Protein Accession:
    P20700
    Secondary Accessions:
    • B2R6J6
    • Q3SYN7
    • Q96EI6

    Protein attributes for LMNB1 Gene

    Size:
    586 amino acids
    Molecular mass:
    66408 Da
    Quaternary structure:
    • Homodimer. Interacts with lamin-associated polypeptides IA, IB and 2. Interacts with SPAG4 and SEPT12.
    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.

    Three dimensional structures from OCA and Proteopedia for LMNB1 Gene

neXtProt entry for LMNB1 Gene

Post-translational modifications for LMNB1 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 Lys49, Lys79, Lys111, Lys134, Lys145, Lys157, Lys182, Lys209, Lys241, Lys261, Lys271, Lys312, Lys483, Lys528, Lys532, and Lys547
  • Modification sites at PhosphoSitePlus

Other Protein References for LMNB1 Gene

Antibodies for research

No data available for DME Specific Peptides for LMNB1 Gene

Domains & Families for LMNB1 Gene

Gene Families for LMNB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for LMNB1 Gene

InterPro:
Blocks:
  • Intermediate filament protein
  • Intermediate filament, C-terminal

Suggested Antigen Peptide Sequences for LMNB1 Gene

GenScript: Design optimal peptide antigens:
  • Lamin-B1 (LMNB1_HUMAN)
  • LMNB1 protein (Q6DC98_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P20700

UniProtKB/Swiss-Prot:

LMNB1_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with LMNB1: view

Function for LMNB1 Gene

Molecular function for LMNB1 Gene

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.
GENATLAS Biochemistry:
lamin,type B1

Phenotypes From GWAS Catalog for LMNB1 Gene

Gene Ontology (GO) - Molecular Function for LMNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003690 double-stranded DNA binding IEA --
GO:0005198 structural molecule activity TAS 7557986
GO:0005515 protein binding IPI 21346760
GO:0043274 phospholipase binding IEA --
GO:1990837 sequence-specific double-stranded DNA binding IEA --
genes like me logo Genes that share ontologies with LMNB1: view
genes like me logo Genes that share phenotypes with LMNB1: view

Human Phenotype Ontology for LMNB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LMNB1 Gene

MGI Knock Outs for LMNB1:

miRNA for LMNB1 Gene

miRTarBase miRNAs that target LMNB1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMNB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LMNB1 Gene

Localization for LMNB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMNB1 Gene

Nucleus inner membrane. Lipid-anchor. Nucleoplasmic side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMNB1 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LMNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 10791971
GO:0005635 nuclear envelope IEA,TAS --
GO:0005637 nuclear inner membrane IEA --
GO:0005638 lamin filament TAS,IEA --
GO:0005654 nucleoplasm IEA,TAS --
genes like me logo Genes that share ontologies with LMNB1: view

Pathways & Interactions for LMNB1 Gene

genes like me logo Genes that share pathways with LMNB1: view

Pathways by source for LMNB1 Gene

2 GeneGo (Thomson Reuters) pathways for LMNB1 Gene
  • Apoptosis and survival Caspase cascade
  • Apoptosis and survival FAS signaling cascades
4 Qiagen pathways for LMNB1 Gene
  • Caspase Cascade
  • Fas Signaling
  • Granzyme Pathway
  • Granzyme-B Pathway
2 Cell Signaling Technology pathways for LMNB1 Gene

SIGNOR curated interactions for LMNB1 Gene

Other effect:

Gene Ontology (GO) - Biological Process for LMNB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0035722 interleukin-12-mediated signaling pathway TAS --
genes like me logo Genes that share ontologies with LMNB1: view

Drugs & Compounds for LMNB1 Gene

(6) Drugs for LMNB1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for LMNB1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with LMNB1: view

Transcripts for LMNB1 Gene

mRNA/cDNA for LMNB1 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMNB1

Alternative Splicing Database (ASD) splice patterns (SP) for LMNB1 Gene

No ASD Table

Relevant External Links for LMNB1 Gene

GeneLoc Exon Structure for
LMNB1

Expression for LMNB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LMNB1 Gene

mRNA differential expression in normal tissues according to GTEx for LMNB1 Gene

This gene is overexpressed in Whole Blood (x13.2).

Protein differential expression in normal tissues from HIPED for LMNB1 Gene

This gene is overexpressed in Monocytes (8.8) and Peripheral blood mononuclear cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LMNB1 Gene



Protein tissue co-expression partners for LMNB1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LMNB1

SOURCE GeneReport for Unigene cluster for LMNB1 Gene:

Hs.89497

Evidence on tissue expression from TISSUES for LMNB1 Gene

  • Liver(4.7)
  • Nervous system(4.7)
  • Eye(4.7)
  • Blood(4.6)
  • Heart(3.9)
  • Lung(3.3)
  • Pancreas(3.2)
  • Intestine(3.2)
  • Kidney(3)
  • Skin(2.9)
  • Muscle(2.8)
  • Bone marrow(2.7)
  • Lymph node(2.6)
  • Adrenal gland(2.6)
  • Spleen(2.6)
  • Gall bladder(2.4)
  • Stomach(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMNB1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • reproductive
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
Thorax:
  • heart
Abdomen:
  • intestine
  • kidney
  • large intestine
Pelvis:
  • penis
  • rectum
  • ureter
  • urethra
  • urinary bladder
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with LMNB1: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for LMNB1 Gene

Orthologs for LMNB1 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMNB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LMNB1 29 30
  • 99.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LMNB1 29 30
  • 93.1 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LMNB1 29 30
  • 92.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lmnb1 29
  • 88.79 (n)
Mouse
(Mus musculus)
Mammalia Lmnb1 29 16 30
  • 88.4 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia LMNB1 30
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 71 (a)
OneToMany
-- 30
  • 69 (a)
OneToMany
Chicken
(Gallus gallus)
Aves LMNB1 29 30
  • 77.21 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LMNB1 30
  • 32 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lmnb1 29
  • 72.26 (n)
MGC75974 29
African clawed frog
(Xenopus laevis)
Amphibia LOC397911 29
Zebrafish
(Danio rerio)
Actinopterygii lmnb1 29 30
  • 67.64 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Lam 30 31
  • 35 (a)
ManyToMany
LamC 30 31
  • 33 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea lmn-1 29 30 31
  • 44.75 (n)
OneToMany
ifa-4 31
  • 28 (a)
ifb-1 31
  • 28 (a)
ifa-2 31
  • 27 (a)
ifb-2 31
  • 24 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.8283 30
  • 34 (a)
OneToMany
Species where no ortholog for LMNB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 LMNB1 Gene

ENSEMBL:
Gene Tree for LMNB1 (if available)
TreeFam:
Gene Tree for LMNB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LMNB1: view image
Alliance of Genome Resources:
Additional Orthologs for LMNB1

Paralogs for LMNB1 Gene

(7) SIMAP similar genes for LMNB1 Gene using alignment to 4 proteins:

  • LMNB1_HUMAN
  • E9PBF6_HUMAN
  • L0R6K0_HUMAN
  • Q6DC98_HUMAN
genes like me logo Genes that share paralogs with LMNB1: view

Variants for LMNB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LMNB1 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
1032338 Uncertain Significance: Leukodystrophy, adult-onset, autosomal dominant 126,804,768(+) T/C
NM_005573.4(LMNB1):c.360-8T>C
INTRON
1038430 Uncertain Significance: not provided 126,811,780(+) A/G
NM_005573.4(LMNB1):c.821A>G (p.Asn274Ser)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1045216 Uncertain Significance: not provided 126,811,802(+) G/T
NM_005573.4(LMNB1):c.843G>T (p.Met281Ile)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
813713 Uncertain Significance: Microcephaly 126,819,073(+) T/C
NM_005573.4(LMNB1):c.1091T>C (p.Leu364Pro)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
905851 Uncertain Significance: Leukodystrophy, adult-onset, autosomal dominant 126,836,318(+) A/T
NM_005573.4(LMNB1):c.*54A>T
NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LMNB1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LMNB1 Gene

Variant ID Type Subtype PubMed ID
esv1346080 CNV deletion 17803354
esv21575 CNV loss 19812545
esv2477910 CNV deletion 19546169
esv2658121 CNV deletion 23128226
esv3606691 CNV loss 21293372
nsv473599 CNV novel sequence insertion 20440878
nsv509084 CNV insertion 20534489
nsv950130 CNV duplication 24416366

Variation tolerance for LMNB1 Gene

Residual Variation Intolerance Score: 11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.42; 42.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LMNB1 Gene

Human Gene Mutation Database (HGMD)
LMNB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMNB1
Leiden Open Variation Database (LOVD)
LMNB1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMNB1 Gene

Disorders for LMNB1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for LMNB1 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

UniProtKB/Swiss-Prot

LMNB1_HUMAN
  • Leukodystrophy, demyelinating, autosomal dominant, adult-onset (ADLD) [MIM:169500]: A slowly progressive and fatal demyelinating leukodystrophy, presenting in the fourth or fifth decade of life. Clinically characterized by early autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS. It differs from multiple sclerosis and other demyelinating disorders in that neuropathology shows preservation of oligodendroglia in the presence of subtotal demyelination and lack of astrogliosis. {ECO:0000269 PubMed:16951681}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for LMNB1

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LMNB1: view

No data available for Genatlas for LMNB1 Gene

Publications for LMNB1 Gene

  1. Structural organization of the human gene (LMNB1) encoding nuclear lamin B1. (PMID: 7557986) Lin F … Worman HJ (Genomics 1995) 2 3 4 22
  2. A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy. (PMID: 19151023) Brussino A … Brusco A (Journal of neurology, neurosurgery, and psychiatry 2009) 3 22 72
  3. Mutations in the lamin B1 gene are not present in multiple sclerosis. (PMID: 19348623) Brussino A … Brusco A (European journal of neurology 2009) 3 22 40
  4. Lamin B1 duplications cause autosomal dominant leukodystrophy. (PMID: 16951681) Padiath QS … Fu YH (Nature genetics 2006) 4 22 72
  5. Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization. (PMID: 8838815) Wydner KL … Lawrence JB (Genomics 1996) 2 3 22

Products for LMNB1 Gene

Sources for LMNB1 Gene