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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LMNB1
lamin B1
Chromosome 5 Β· 5q23.2
NCBI Gene: 4001Ensembl: ENSG00000113368.13HGNC: HGNC:6637UniProt: B4DZT3
379PubMed Papers
23Diseases
0Drugs
10Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nuclear envelope organizationnuclear envelopenuclear membraneprotein bindingmicrocephaly 26, primary, autosomal dominantAdult-onset autosomal dominant leukodystrophyAutosomal dominant microcephalyadult-onset autosomal dominant demyelinating leukodystrophy
✦AI Summary

LMNB1 encodes lamin B1, an intermediate filament protein that assembles into the nuclear lamina, a fibrous meshwork on the nucleoplasmic side of the inner nuclear membrane 12. As a major structural component of the nuclear envelope, LMNB1 provides a framework bridging the nuclear envelope and chr5, playing critical roles in nuclear assembly, chr5 organization, and nuclear membrane dynamics 12. The structural integrity of the lamina is tightly controlled during the cell cycle, with disintegration during prophase and reformation during telophase 12. LMNB1 expression is significantly reduced in senescent cells, serving as a marker of cellular senescence 34. In cancer biology, elevated LMNB1 expression correlates with poor prognosis across multiple tumor types and is associated with enhanced DNA repair capacity and Th2 immune cell infiltration 5. In glioma, LMNB1 knockdown inhibits cell proliferation, induces apoptosis, and reduces migration through PI3K/Akt pathway suppression 6. Clinically, LMNB1 mutations and structural variants cause autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), with duplications causing classical ADLD and noncoding deletions causing atypical ADLD 78. B-type lamins including LMNB1 are essential for neuronal migration in developing brain 8, and LMNB1 dysregulation particularly affects forebrain function in ADLD pathogenesis 7.

Sources cited
1
LMNB1 assembles into nuclear lamina and provides framework for nuclear envelope, chromatin organization, and nuclear membrane dynamics
PMID: 28716252
2
LMNB1 is a major component of nuclear lamina with roles in nuclear assembly and cell cycle-dependent structural integrity
PMID: 32910914
3
LMNB1 expression is reduced in senescent cells and serves as a senescence marker
PMID: 28844647
4
Low LMNB1 expression is present in senescent cells identified by LAMP1 biomarker
PMID: 40545776
5
LMNB1 upregulation correlates with poor prognosis, Th2 cell infiltration, and DNA repair in multiple cancer types
PMID: 35241075
6
LMNB1 knockdown inhibits glioma cell proliferation and migration through PI3K/Akt pathway suppression
PMID: 39636549
7
LMNB1 duplications and deletions cause autosomal dominant demyelinating leukodystrophy with variable mechanisms based on 3D genome disruption
PMID: 39078102
8
LMNB1 is essential for neuronal migration in developing brain; duplications cause autosomal dominant leukodystrophy
PMID: 24842906
Disease Associationsβ“˜23
microcephaly 26, primary, autosomal dominantOpen Targets
0.72Strong
Adult-onset autosomal dominant leukodystrophyOpen Targets
0.68Moderate
Autosomal dominant microcephalyOpen Targets
0.67Moderate
adult-onset autosomal dominant demyelinating leukodystrophyOpen Targets
0.49Moderate
Syndrome with microcephaly as major featureOpen Targets
0.49Moderate
genetic disorderOpen Targets
0.47Moderate
Alzheimer diseaseOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
autosomal dominant primary microcephalyOpen Targets
0.37Weak
developmental disorder of mental healthOpen Targets
0.37Weak
idiopathic pulmonary fibrosisOpen Targets
0.31Weak
esophageal ulcerOpen Targets
0.29Weak
breast cancerOpen Targets
0.28Weak
multinodular goiterOpen Targets
0.27Weak
retinopathyOpen Targets
0.26Weak
hypothyroidismOpen Targets
0.25Weak
neuroblastomaOpen Targets
0.15Weak
ovarian carcinomaOpen Targets
0.15Weak
microcephalyOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
Leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypicalUniProt
Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typicalUniProt
Microcephaly 26, primary, autosomal dominantUniProt
Pathogenic Variants10
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu)Pathogenic
Syndrome with microcephaly as major feature|Microcephaly 26, primary, autosomal dominant|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 33
NM_005573.4(LMNB1):c.124C>T (p.Arg42Trp)Pathogenic
Syndrome with microcephaly as major feature|Microcephaly 26, primary, autosomal dominant|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 42
NM_005573.4(LMNB1):c.269G>C (p.Arg90Pro)Likely pathogenic
Microcephaly 26, primary, autosomal dominant|Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 90
NM_005573.4(LMNB1):c.97_99del (p.Lys33del)Pathogenic
not provided|LMNB1-related primary microcephaly
β˜…β˜†β˜†β˜†2023β†’ Residue 33
NM_005573.4(LMNB1):c.1091T>C (p.Leu364Pro)Pathogenic
Microcephaly|not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 364
NM_005573.4(LMNB1):c.814-1G>TLikely pathogenic
Microcephaly 26, primary, autosomal dominant
β˜…β˜†β˜†β˜†2023
NM_005573.4(LMNB1):c.939+1G>APathogenic
Microcephaly 26, primary, autosomal dominant|Syndrome with microcephaly as major feature|Inborn genetic diseases
β˜…β˜†β˜†β˜†2021
NC_000005.10:g.126508361_126769360delPathogenic
Adult-onset autosomal dominant demyelinating leukodystrophy
β˜…β˜†β˜†β˜†2021
NM_005573.4(LMNB1):c.455C>G (p.Ala152Gly)Pathogenic
Microcephaly 26, primary, autosomal dominant|Syndrome with microcephaly as major feature
β˜†β˜†β˜†β˜†2021β†’ Residue 152
NM_005573.4(LMNB1):c.939+2362_1491+560delPathogenic
Syndrome with microcephaly as major feature|Microcephaly 26, primary, autosomal dominant
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
EMDProtein interaction99%SUN1Protein interaction98%PXDNLProtein interaction98%TMPOProtein interaction98%CENPAProtein interaction97%SYNE2Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
69%
Lung
14%
Liver
8%
Ovary
5%
Heart
2%
Gene Interaction Network
Click a node to explore
LMNB1EMDSUN1PXDNLTMPOCENPASYNE2
PROTEIN STRUCTURE
Preparing viewer…
PDB3UMN Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.55Moderately Constrained
pLIβ“˜
0.87Intermediate
Observed/Expected LoF0.36 [0.24–0.55]
RankingsWhere LMNB1 stands among ~20K protein-coding genes
  • #796of 20,598
    Most Researched379 Β· top 5%
  • #2,819of 5,498
    Most Pathogenic Variants10
  • #3,527of 17,882
    Most Constrained (LOEUF)0.55 Β· top quartile
Genes detectedLMNB1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
Organelle-specific autophagy in inflammatory diseases: a potential therapeutic target underlying the quality control of multiple organelles.
PMID: 32048886
Autophagy Β· 2021
1.00
2
Unmasking Transcriptional Heterogeneity in Senescent Cells.
PMID: 28844647
Curr Biol Β· 2017
0.90
3
Targeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging.
PMID: 28340339
Cell Β· 2017
0.80
4
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.
PMID: 39910058
Nat Commun Β· 2025
0.76
5
Cell-Surface LAMP1 is a Senescence Marker in Aging and Idiopathic Pulmonary Fibrosis.
PMID: 40545776
Aging Cell Β· 2025
0.70