LMNB2 Gene - Lamin B2
Key regulator of nuclear structure and function; implicated in lipodystrophy and neurological disorders
Gene Information Card
| Symbol | LMNB2 |
|---|---|
| Full Name | Lamin B2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 84823 ncbi.nlm.nih.gov/gene/84823 |
| Ensembl ID | ENSG00000176619 |
| UniProt ID | Q03252 |
| OMIM ID | 150341 |
| HGNC ID | 6632 |
| Aliases | LMN2, LAMB2, lamin B2 |
Description
LMNB2 encodes lamin B2, a type V intermediate filament protein that forms the nuclear lamina, a meshwork underlying the inner nuclear membrane. Lamin B2 is essential for nuclear stability, chromatin organization, DNA replication, and cell cycle regulation. Mutations in LMNB2 are associated with partial lipodystrophy and adult-onset leukodystrophy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Partial lipodystrophy, acquired (APL) | Missense mutations disrupt nuclear lamina integrity, leading to adipocyte dysfunction | OMIM #608709; PMID: 12482946 |
| Adult-onset leukodystrophy with axonal spheroids and pigmented glia (ALSP) | Dominant-negative mutations impair nuclear envelope assembly in oligodendrocytes | OMIM #169500; PMID: 26912364 |
| Pelizaeus-Merzbacher-like disease | Hypomorphic variants cause hypomyelination | OMIM #608804; PMID: 26912364 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.2 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.8 | Low |
| Testis | 15.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical carcinoma |
| HepG2 | 9.7 | Hepatocellular carcinoma |
| SH-SY5Y | 11.3 | Neuroblastoma |
| MCF7 | 7.5 | Breast carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.949C>T (p.Arg317Cys) | Missense | Rare | Dominant-negative; associated with ALSP |
| c.1580G>A (p.Arg527His) | Missense | Rare | Gain-of-function; linked to APL |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Loss-of-function; reduced lamin B2 levels |
Mutation functional classification
Loss of Function (LOF)
Start-loss and nonsense mutations reduce lamin B2 expression, compromising nuclear integrity.
Gain of Function (GOF)
Missense mutations (e.g., p.Arg527His) alter lamin B2 polymerization, leading to nuclear envelope defects.
Dominant Negative (DN)
Mutations such as p.Arg317Cys disrupt filament assembly, causing dominant-negative effects in oligodendrocytes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Nuclear Envelope Breakdown and Reformation (Reactome: R-HSA-2980767)
• Cell Cycle
• Mitotic (Reactome: R-HSA-69278)
• Formation of Nuclear Envelope (Reactome: R-HSA-2980767)
Protein Summary
Lamin B2 is a 620-amino acid nuclear lamina protein with a central alpha-helical rod domain flanked by globular head and tail domains. It undergoes farnesylation and carboxymethylation for membrane association. Lamin B2 interacts with lamin B receptor and other nuclear envelope proteins to maintain nuclear shape and mechanical stability. It is expressed ubiquitously with highest levels in testis and adipose tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LMNB2 Knockout HEK293 Cell Line | EDJ-KQ10212 | Human | 84823 | Details Get a Quote |
| LMNB2 Knockout A-549 Cell Line | EDJ-KQ37369 | Human | 84823 | Details Get a Quote |
| LMNB2 Knockout HCT 116 Cell Line | EDJ-KQ37370 | Human | 84823 | Details Get a Quote |
| LMNB2 Knockout HeLa Cell Line | EDJ-KQ37371 | Human | 84823 | Details Get a Quote |
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