LMOD2 leiomodin 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: LMOD2provided by HGNC
Official Full Name: leiomodin 2provided by HGNC
Primary source: HGNC:HGNC:6648
See related: Ensembl:ENSG00000170807 MIM:608006; AllianceGenome:HGNC:6648
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CLMOD; CMD2G; C-LMOD
Summary: Enables actin monomer binding activity and tropomyosin binding activity. Involved in actin nucleation; positive regulation of actin filament polymerization; and sarcomere organization. Located in M band and actin filament. Implicated in dilated cardiomyopathy 2G. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward heart (RPKM 307.4) See more
Orthologs: mouse all
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Genomic context

Location:: 7q31.32

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	7	NC_000007.14 (123655866..123664290)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	7	NC_060931.1 (124972622..124981048)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	7	NC_000007.13 (123295920..123304344)

Chromosome 7 - NC_000007.14 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: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay.
Title: Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay.
Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.
Title: Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy.
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.
Crystal Structure of Leiomodin 2 in Complex with Actin
Title: Crystal Structure of Leiomodin 2 in Complex with Actin: A Structural and Functional Reexamination.
The mutation reduced binding affinity for both Lmod2 and Tmod1. The effect of the K15N mutation on Tpm1.1 binding to Lmod2 and Tmod1 provides a molecular rationale for the development of familial dilated cardiomyopathies .
Title: Localization of the binding interface between leiomodin-2 and α-tropomyosin.
The C-terminal extension of Lmod2 and C terminal of Tmod1 are sufficient to produce a filament nucleator.
Title: How Leiomodin and Tropomodulin use a common fold for different actin assembly functions.
Complementary functional studies suggest that the binding of Lmod2 stimulates ATP hydrolysis and accelerates actin nucleation and polymerization.
Title: Mechanisms of leiomodin 2-mediated regulation of actin filament in muscle cells.
study describes an actin-binding protein, leiomodin, that acted as a strong filament nucleator in muscle cells
Title: Leiomodin is an actin filament nucleator in muscle cells.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Risperidone-related weight gain: genetic and nongenetic predictors.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cardiomyopathy, dilated, 2G MedGen: C5676995 OMIM: 619897 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables actin binding	IDA Inferred from Direct Assay more info	PubMed
enables actin monomer binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables tropomyosin binding	IBA Inferred from Biological aspect of Ancestor more info
enables tropomyosin binding	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament polymerization	IEA Inferred from Electronic Annotation more info
involved_in actin nucleation	IDA Inferred from Direct Assay more info	PubMed
involved_in actin nucleation	IMP Inferred from Mutant Phenotype more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
involved_in sarcomere organization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
colocalizes_with M band	IDA Inferred from Direct Assay more info	PubMed
located_in actin filament	IDA Inferred from Direct Assay more info	PubMed
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	IDA Inferred from Direct Assay more info	PubMed
located_in sarcomere	IDA Inferred from Direct Assay more info	PubMed
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; leiomodin 2 (cardiac)

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_207163.3 → NP_997046.1 leiomodin-2

See identical proteins and their annotated locations for NP_997046.1

Status: VALIDATED

Source sequence(s)

AA747115, AC006333, BC017911

Consensus CDS

CCDS47693.1

UniProtKB/Swiss-Prot

A4D0W9, A4D0Y2, Q6P5Q4, Q8WVJ8

UniProtKB/TrEMBL

B4DRV0

Related

ENSP00000411932.2, ENST00000458573.3

Conserved Domains (2) summary

cd00116
Location:223 → 332

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