Gene

lmna

ID
ZDB-GENE-020424-3
Name
lamin A
Symbol
lmna Nomenclature History
Previous Names
  • cb948 (1)
  • wu:fk66d12 (1)
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
Expression
All Expression Data
13 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
6 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With lmna Human Ortholog
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
Associated With lmna Via Experimental Models
No data available
Gene Ontology
Protein Domains
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:A0A2R8QPG3 675
UniProtKB:Q90XD7 659
UniProtKB:B3DKC5 659
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-lmna polyclonal IgY Chicken
  • IHC
  • WB
Abcam plc
2
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations