Lmod2 leiomodin 2 (cardiac) [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Lmod2provided by MGI
Official Full Name: leiomodin 2 (cardiac)provided by MGI
Primary source: MGI:MGI:2135672
See related: Ensembl:ENSMUSG00000029683 AllianceGenome:MGI:2135672
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: C-Lmod
Summary: Predicted to enable actin monomer binding activity and tropomyosin binding activity. Involved in actin filament polymerization and sarcomere organization. Predicted to be located in actin filament; cardiac myofibril; and sarcomere. Predicted to be active in striated muscle thin filament. Predicted to colocalize with M band. Is expressed in several structures, including aorta; central nervous system; foregut; heart; and skeletal musculature. Used to study dilated cardiomyopathy. Human ortholog(s) of this gene implicated in dilated cardiomyopathy 2G. Orthologous to human LMOD2 (leiomodin 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward heart adult (RPKM 77.5) See more
Orthologs: human all
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Genomic context

Location:: 6 A3.1; 6 11.28 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (24597770..24605413)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (24597771..24605414)

Chromosome 6 - NC_000072.7 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?

Lmod2 is necessary for effective skeletal muscle contraction.
Title: Lmod2 is necessary for effective skeletal muscle contraction.
Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.
Title: Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy.
Loss of Lmod2 in adult mice results in a rapid loss of contractile force and cardiac failure. These results indicate that Lmod2 functions to maintain thin filament length and uniformity, which contributes to proper contractile force generation.
Title: Cardiac-specific knockout of Lmod2 results in a severe reduction in myofilament force production and rapid cardiac failure.
Data indicate that leiomodin 2 protein(Lmod2) functions to elongate actin filaments in the heart.
Title: Knockout of Lmod2 results in shorter thin filaments followed by dilated cardiomyopathy and juvenile lethality.

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Variation

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Alleles

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

Targeted (1)
Transposon induced (1) 1 citation

General gene information

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Markers

Lmod2 (e-PCR), detects polymorphism
- UniSTS:515317

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	ISO Inferred from Sequence Orthology more info
enables actin binding	ISS Inferred from Sequence or Structural Similarity more info
enables actin monomer binding	IEA Inferred from Electronic Annotation more info
enables actin monomer binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables tropomyosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tropomyosin binding	IEA Inferred from Electronic Annotation more info
enables tropomyosin binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament polymerization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in actin nucleation	ISO Inferred from Sequence Orthology more info
involved_in actin nucleation	ISS Inferred from Sequence or Structural Similarity more info
involved_in muscle contraction	IBA Inferred from Biological aspect of Ancestor more info
involved_in myofibril assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in pointed-end actin filament capping	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of actin filament polymerization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of actin filament polymerization	ISS Inferred from Sequence or Structural Similarity more info
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sarcomere organization	ISO Inferred from Sequence Orthology more info
involved_in sarcomere organization	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
colocalizes_with M band	ISO Inferred from Sequence Orthology more info
located_in M band	ISO Inferred from Sequence Orthology more info
colocalizes_with M band	ISS Inferred from Sequence or Structural Similarity more info
located_in actin filament	ISO Inferred from Sequence Orthology more info
located_in actin filament	ISS Inferred from Sequence or Structural Similarity more info
located_in cardiac myofibril	ISO Inferred from Sequence Orthology more info
is_active_in cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
is_active_in myofibril	IBA Inferred from Biological aspect of Ancestor more info
located_in myofibril	ISO Inferred from Sequence Orthology more info
located_in sarcomere	ISO Inferred from Sequence Orthology more info
located_in sarcomere	ISS Inferred from Sequence or Structural Similarity more info
is_active_in striated muscle thin filament	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: leiomodin-2

Names: cardiac leiomodin

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_053098.2 → NP_444328.1 leiomodin-2

See identical proteins and their annotated locations for NP_444328.1

Status: PROVISIONAL

Source sequence(s)

AK147141

Consensus CDS

CCDS19944.1

UniProtKB/Swiss-Prot

Q3UHZ5, Q99PM7

Related

ENSMUSP00000031694.7, ENSMUST00000031694.8

Conserved Domains (2) summary

cd00116
Location:230 → 339

LRR_RI; Leucine-rich repeats (LRRs), ribonuclease inhibitor (RI)-like subfamily. LRRs are 20-29 residue sequence motifs present in many proteins that participate in protein-protein interactions and have different functions and cellular locations. LRRs correspond ...

pfam03250
Location:6 → 85

Tropomodulin; Tropomodulin