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. 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). Is expressed in several structures, including fin; head; mesoderm; musculature system; and pleuroperitoneal region. 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
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
ncRNA	lmna-003 (1) Ensembl	Ensembl	412 nt	Select Tool

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