Gene
lmnb2
- ID
- ZDB-GENE-990630-13
- Name
- lamin B2
- Symbol
- lmnb2 Nomenclature History
- Previous Names
-
- fc15d06
- im:7142331
- lamin (1)
- wu:fb94e05
- wu:fb95e12
- wu:fc15d06
- wu:fc49h03
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Localizes to nuclear envelope. Human ortholog(s) of this gene implicated in partial lipodystrophy and progressive myoclonus epilepsy 9. Orthologous to human LMNB2 (lamin B2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| progressive myoclonus epilepsy 9 | Alliance | ?Epilepsy, progressive myoclonic, 9 | 616540 |
| Microcephaly 27, primary, autosomal dominant | 619180 | ||
| {Lipodystrophy, partial, acquired, susceptibility to} | 608709 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Lamin tail domain | Lamin tail domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:B3DFN3
|
583 |
Interactions and Pathways
No data available
Plasmids
No data available