Gene
lmna
- ID
- ZDB-GENE-020424-3
- Name
- lamin A
- Symbol
- lmna Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Involved in heart contraction and regulation of cell aging. Predicted to localize to intermediate filament. Is expressed in several structures, including fin; head; mesoderm; musculature system; and pleuroperitoneal region. Human ortholog(s) of this gene implicated in several diseases, including Charcot-Marie-Tooth disease type 2B1; intrinsic cardiomyopathy (multiple); lipodystrophy (multiple); muscular dystrophy (multiple); and type 2 diabetes mellitus (multiple). Orthologous to human LMNA (lamin A/C).
- Genome Resources
- Note
- None
- All Expression Data
- 13 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant Emery-Dreifuss muscular dystrophy 2 | Alliance | Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 181350 |
| autosomal recessive Emery-Dreifuss muscular dystrophy 3 | Alliance | Emery-Dreifuss muscular dystrophy 3, autosomal recessive | 616516 |
| Charcot-Marie-Tooth disease type 2B1 | Alliance | Charcot-Marie-Tooth disease, type 2B1 | 605588 |
| congenital muscular dystrophy due to LMNA mutation | Alliance | Muscular dystrophy, congenital | 613205 |
| dilated cardiomyopathy 1A | Alliance | Cardiomyopathy, dilated, 1A | 115200 |
| dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome | Alliance | Malouf syndrome | 212112 |
| familial partial lipodystrophy type 2 | Alliance | Lipodystrophy, familial partial, type 2 | 151660 |
| lethal restrictive dermopathy | Alliance | Restrictive dermopathy, lethal | 275210 |
| progeria | Alliance | Hutchinson-Gilford progeria | 176670 |
| Heart-hand syndrome, Slovenian type | 610140 | ||
| Mandibuloacral dysplasia | 248370 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR018039 | Intermediate filament protein, conserved site |
| Domain | IPR001322 | Lamin tail domain |
| Domain | IPR039008 | Intermediate filament, rod domain |
| Homologous_superfamily | IPR036415 | Lamin tail domain superfamily |
| Homologous_superfamily | IPR042180 | Intermediate filament, rod domain, coil 1B |
Domain Details Per Protein
| Protein | Length | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Intermediate filament, rod domain, coil 1B | Lamin tail domain | Lamin tail domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:Q90XD7
|
659 | |||||
|
UniProtKB:A0A2R8QPG3
|
675 | |||||
|
UniProtKB:B3DKC5
|
659 |
Interactions and Pathways
No data available
Plasmids
No data available