Lemd2 LEM domain containing 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lemd2provided by MGI
Official Full Name: LEM domain containing 2provided by MGI
Primary source: MGI:MGI:2385045
See related: Ensembl:ENSMUSG00000044857 AllianceGenome:MGI:2385045
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Lem2; NET25
Summary: Predicted to enable chromatin DNA binding activity. Involved in heart formation; negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and neurogenesis. Acts upstream of or within negative regulation of MAPK cascade and skeletal muscle cell differentiation. Located in nuclear membrane. Is expressed in several structures, including heart; leg muscle; liver; nephric duct; and neural tube. Used to study cardiomyopathy. Human ortholog(s) of this gene implicated in cataract 46 juvenile-onset. Orthologous to human LEMD2 (LEM domain nuclear envelope protein 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in adrenal adult (RPKM 61.9), ovary adult (RPKM 61.0) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 A3.3; 17 13.82 cM

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (27408574..27426228, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (27189600..27205470, complement)

Chromosome 17 - NC_000083.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lem2 is essential for cardiac development by maintaining nuclear integrity.
Title: Lem2 is essential for cardiac development by maintaining nuclear integrity.
Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in Cardiomyopathy.
Title: Mechanistic Insights of the LEMD2 p.L13R Mutation and Its Role in Cardiomyopathy.
we expressed a LEMD2 transgene alone or in combination with lamin C in these cells and observed no restoration of peripheral heterochromatin in either case. We conclude that in contrary to the B-tether, the A-tether has a more intricate composition and consists of multiple components that presumably vary, at differing degrees of redundancy, between cell types and differentiation stages
Title: Nuclear envelope localization of LEMD2 is developmentally dynamic and lamin A/C dependent yet insufficient for heterochromatin tethering.
Lemd2 plays an essential role in mouse embryonic development and that it is involved in regulating several signaling pathways.
Title: Nuclear envelope protein Lem2 is required for mouse development and regulates MAP and AKT kinases.
Lemd2 is required for embryonic development in mouse and its loss is associated with highly elevated activity of AKT and MAP kinases.
Title: Nuclear envelope protein Lem2 is required for mouse development and regulates MAP and AKT kinases.
Deregulation of cell signaling contributes to nuclear envelope-linked disorders and suggests that mutations in NET25 and MAN1 may cause muscle diseases.
Title: Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (5) 1 citation
Gene trapped (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables chromatin DNA binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in heart formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within negative regulation of MAPK cascade	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nuclear envelope organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in nuclear envelope organization	IEA Inferred from Electronic Annotation more info
involved_in nuclear envelope organization	ISO Inferred from Sequence Orthology more info
involved_in protein localization to chromatin	IEA Inferred from Electronic Annotation more info
involved_in protein localization to chromatin	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within skeletal muscle cell differentiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in chromatin	IEA Inferred from Electronic Annotation more info
located_in chromatin	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
colocalizes_with endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
colocalizes_with nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear inner membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in spindle	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: LEM domain-containing protein 2

Names: nuclear envelope constituent; nuclear envelope transmembrane protein 25

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_146075.2 → NP_666187.2 LEM domain-containing protein 2

See identical proteins and their annotated locations for NP_666187.2

Status: VALIDATED

Source sequence(s)

AA259360, AK082131, AK143224, BY732449

Consensus CDS

CCDS50043.1

UniProtKB/Swiss-Prot

Q6DVA0, Q8C4H8, Q8R0N2

Related

ENSMUSP00000058221.8, ENSMUST00000055117.9

Conserved Domains (2) summary

pfam09402
Location:286 → 501

MSC; Man1-Src1p-C-terminal domain

cl02649
Location:4 → 41

LEM; LEM (Lap2/Emerin/Man1) domain found in emerin, lamina-associated polypeptide 2 (LAP2), inner nuclear membrane protein Man1 and similar proteins