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 heart contraction and regulation of cellular senescence. Predicted to be located in intermediate filament. Predicted to be active in nuclear envelope and nuclear lamina. 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

14 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb948 (11 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 15 figures from 5 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
mandibuloacral dysplasia type A lipodystrophy	Alliance	Mandibuloacral dysplasia	248370
progeria	Alliance	Hutchinson-Gilford progeria	176670
restrictive dermopathy 2	Alliance	Restrictive dermopathy 2	619793
		Heart-hand syndrome, Slovenian type	610140

Associated With lmna Via Experimental Models

Human Disease	Fish	Conditions	Citations
muscle tissue disease	lmna^ot300/ot300	standard conditions	Nicolas et al., 2021

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:Q90XD7 InterPro	659
UniProtKB:B3DKC5 InterPro	659

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	lmna-202 (1) Ensembl	Ensembl	4,620 nt	Select Tool ZFIN BLAST
mRNA	lmna-204 (1) Ensembl	Ensembl	7,611 nt	Select Tool ZFIN BLAST
mRNA	lmna-205 (1) Ensembl	Ensembl	5,695 nt	Select Tool ZFIN BLAST
mRNA	lmna-206 (1) Ensembl	Ensembl	2,167 nt	Select Tool ZFIN BLAST
ncRNA	lmna-002 (1) Ensembl	Ensembl	688 nt	Select Tool ZFIN BLAST
ncRNA	lmna-003 (1) Ensembl	Ensembl	412 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-lmna	polyclonal	lmna	IgY	Chicken	IHC WB	Abcam plc	2

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations