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
Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within several processes, including heart contraction; regulation of cellular senescence; and skeletal muscle tissue development. Predicted to be located in intermediate filament and nucleus. Predicted to be active in nuclear lamina. Is expressed in several structures, including fin; head; mesoderm; musculature system; and pleuroperitoneal region. Used to study muscle tissue disease. 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
15 figures from 7 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
15 figures from 5 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
bw25Allele with one deletionUnknownUnknownCRISPR
hsi9Allele with multiple variantsUnknownUnknownCRISPR
la027723TgTransgenic insertionUnknownUnknownDNA
ot300Allele with one deletionExon 2Premature StopCRISPR
sa10537Allele with one point mutationUnknownPremature StopENU
sa13189Allele with one point mutationUnknownPremature StopENU
sa22872Allele with one point mutationUnknownSplice SiteENU
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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
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Associated With lmna Via Experimental Models
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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
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Domain Details Per Protein
Protein Additional Resources Length Intermediate filament protein, conserved site Intermediate filament, rod domain Lamin tail domain Lamin tail domain superfamily
UniProtKB:Q90XD7 InterPro 659
UniProtKB:B3DKC5 InterPro 659
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 16
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA lmna-202 (1) Ensembl 4,620 nt
mRNA lmna-204 (1) Ensembl 7,611 nt
mRNA lmna-205 (1) Ensembl 5,695 nt
mRNA lmna-206 (1) Ensembl 2,167 nt
ncRNA lmna-002 (1) Ensembl 688 nt
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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
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Plasmids
No data available
Constructs
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACDKEY-181C1ZFIN Curated Data
EncodesESTcb948Thisse et al., 2001
EncodesESTfk66d12ZFIN Curated Data
EncodesESTwz10
EncodescDNAMGC:195196ZFIN Curated Data
EncodescDNAMGC:195205ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanLMNA1
Amino acid sequence comparison (6)
Conserved genome location (synteny) (2)
MouseLmna3
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
Citations
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