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
Acts upstream of or within heart contraction and regulation of cell aging. Predicted to be located in 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
Comparative Information
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
progeria Alliance Hutchinson-Gilford progeria 176670
Heart-hand syndrome, Slovenian type 610140
Mandibuloacral dysplasia 248370
Restrictive dermopathy 2 619793
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
Domain Details Per Protein
Protein Length Intermediate filament protein, conserved site Intermediate filament, rod domain Lamin tail domain Lamin tail domain superfamily
UniProtKB:B3DKC5 659
UniProtKB:Q90XD7 659
UniProtKB:A0A2R8QPG3 675
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations