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25 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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LMNB2
lamin B2
Chromosome 19 Β· 19p13.3
NCBI Gene: 84823Ensembl: ENSG00000176619.14HGNC: HGNC:6638UniProt: Q03252
177PubMed Papers
23Diseases
0Drugs
4Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nuclear membraneidentical protein bindingprotein bindingheterochromatin formationmicrocephaly 27, primary, autosomal dominantacquired partial lipodystrophyprogressive myoclonic epilepsy type 9Primary microcephaly
✦AI Summary

LMNB2 (lamin B2) is a nuclear intermediate filament protein that assembles into the nuclear lamina, a fibrous meshwork on the nucleoplasmic side of the inner nuclear membrane 1. It provides structural framework for the nuclear envelope, regulating nuclear assembly, chr19 organization, and DNA dynamics 1. LMNB2 is expressed early in embryogenesis, particularly in the central nervous system where it is essential for neuronal migration and brain development 2. Mechanistically, LMNB2 regulates multiple cellular processes including DNA replication, transcription, chr19 remodeling, and cell cycle progression 3. In cancer contexts, LMNB2 promotes tumor progression through distinct pathways: it acts as a transcriptional regulator of PD-L1 in hepatocellular carcinoma 4, silences p21 to drive colorectal cancer proliferation 5, and regulates cyclin D1/E1 in sarcoma 6. NOP2-mediated m5C methylation of LMNB2 mRNA enhances its stability, facilitating colorectal cancer progression 7. Clinically, LMNB2 is associated with laminopathies including progressive myoclonic epilepsy, primary microcephaly, and partial acquired lipodystrophy 2. Homozygous loss-of-function variants cause severe brain development abnormalities and perinatal lethality 2. SPOP mutations impair LMNB2 ubiquitination and degradation, reducing nuclear integrity and increasing vulnerability to farnesyltransferase inhibitors 48. High LMNB2 expression correlates with poor survival in multiple cancer types.

Sources cited
1
LMNB2 (lamin B2) is a nuclear intermediate filament protein that assembles into the nuclear lamina, a fibrous meshwork on the nucleoplasmic side of the inner nuclear membrane .
PMID: 33033404
2
LMNB2 is expressed early in embryogenesis, particularly in the central nervous system where it is essential for neuronal migration and brain development .
PMID: 40011009
3
Mechanistically, LMNB2 regulates multiple cellular processes including DNA replication, transcription, chr19 remodeling, and cell cycle progression .
PMID: 37044185
4
In cancer contexts, LMNB2 promotes tumor progression through distinct pathways: it acts as a transcriptional regulator of PD-L1 in hepatocellular carcinoma , silences p21 to drive colorectal cancer proliferation , and regulates cyclin D1/E1 in sarcoma .
PMID: 40483310
5
In cancer contexts, LMNB2 promotes tumor progression through distinct pathways: it acts as a transcriptional regulator of PD-L1 in hepatocellular carcinoma , silences p21 to drive colorectal cancer proliferation , and regulates cyclin D1/E1 in sarcoma .
PMID: 33782407
6
In cancer contexts, LMNB2 promotes tumor progression through distinct pathways: it acts as a transcriptional regulator of PD-L1 in hepatocellular carcinoma , silences p21 to drive colorectal cancer proliferation , and regulates cyclin D1/E1 in sarcoma .
PMID: 39774004
7
NOP2-mediated m5C methylation of LMNB2 mRNA enhances its stability, facilitating colorectal cancer progression .
PMID: 40366008
Disease Associationsβ“˜23
microcephaly 27, primary, autosomal dominantOpen Targets
0.74Strong
acquired partial lipodystrophyOpen Targets
0.58Moderate
progressive myoclonic epilepsy type 9Open Targets
0.50Moderate
Primary microcephalyOpen Targets
0.37Weak
Progressive myoclonic epilepsyOpen Targets
0.23Weak
Neurodevelopmental disorderOpen Targets
0.15Weak
knee injuryOpen Targets
0.13Weak
tooth diseaseOpen Targets
0.12Weak
Generalized myoclonic seizureOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.10Weak
cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
cervical squamous intraepithelial neoplasiaOpen Targets
0.08Suggestive
urinary bladder carcinomaOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.05Suggestive
sarcomaOpen Targets
0.05Suggestive
lissencephaly type 1 due to doublecortin gene mutationOpen Targets
0.04Suggestive
Epilepsy, progressive myoclonic 9UniProt
Microcephaly 27, primary, autosomal dominantUniProt
Partial acquired lipodystrophyUniProt
Pathogenic Variants4
NM_032737.4(LMNB2):c.1192G>A (p.Glu398Lys)Pathogenic
Microcephaly 27, primary, autosomal dominant|LMNB2-related disorder|See cases
β˜…β˜…β˜†β˜†2023β†’ Residue 398
NM_032737.4(LMNB2):c.578_579del (p.Val193fs)Pathogenic
Microcephaly 27, primary, autosomal dominant
β˜…β˜†β˜†β˜†2024β†’ Residue 193
NM_032737.4(LMNB2):c.160A>C (p.Asn54His)Pathogenic
Microcephaly 27, primary, autosomal dominant
β˜†β˜†β˜†β˜†2021β†’ Residue 54
NM_032737.4(LMNB2):c.469C>T (p.His157Tyr)Pathogenic
Progressive myoclonic epilepsy type 9
β˜†β˜†β˜†β˜†2015β†’ Residue 157
View on ClinVar β†—
Related Genes
CASP6Protein interaction100%EMDProtein interaction100%LBRProtein interaction100%TMPOProtein interaction100%BANF1Protein interaction100%SUN1Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
94%
Ovary
60%
Lung
57%
Liver
28%
Heart
25%
Gene Interaction Network
Click a node to explore
LMNB2CASP6EMDLBRTMPOBANF1SUN1
PROTEIN STRUCTURE
Preparing viewer…
PDB2LLL Β· NMR
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.18–0.40]
RankingsWhere LMNB2 stands among ~20K protein-coding genes
  • #2,464of 20,598
    Most Researched177 Β· top quartile
  • #3,704of 5,498
    Most Pathogenic Variants4
  • #1,996of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedLMNB2
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
LMNB2-mediated high PD-L1 transcription triggers the immune escape of hepatocellular carcinoma.
PMID: 40483310
Cell Death Discov Β· 2025
1.00
2
Homozygous loss of function variant in
PMID: 40011009
J Med Genet Β· 2025
0.90
3
LMNB2 promotes the progression of colorectal cancer by silencing p21 expression.
PMID: 33782407
Cell Death Dis Β· 2021
0.80
4
A novel missense variant in the LMNB2 gene causes progressive myoclonus epilepsy.
PMID: 33783721
Acta Neurol Belg Β· 2022
0.72
5
The role of lamin B2 in human diseases.
PMID: 37044185
Gene Β· 2023
0.70