Aliases for LMOD2 Gene

Aliases for LMOD2 Gene

  • Leiomodin 2 2 3 5
  • Leiomodin 2 (Cardiac) 2 3
  • Cardiac Leiomodin 3 4
  • Leiomodin-2 3 4
  • C-LMOD 3 4
  • Leiomodin 4
  • CLMOD 3
  • LMOD2 5

External Ids for LMOD2 Gene

Previous GeneCards Identifiers for LMOD2 Gene

  • GC07U990270
  • GC07P122851
  • GC07P122889
  • GC07P123083
  • GC07P123295
  • GC07P117659

Summaries for LMOD2 Gene

GeneCards Summary for LMOD2 Gene

LMOD2 (Leiomodin 2) is a Protein Coding gene. Diseases associated with LMOD2 include Cardiomyopathy, Familial Hypertrophic, 6 and Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome. Gene Ontology (GO) annotations related to this gene include actin binding and tropomyosin binding. An important paralog of this gene is LMOD1.

UniProtKB/Swiss-Prot Summary for LMOD2 Gene

  • Mediates nucleation of actin filaments and thereby promotes actin polymerization (PubMed:18403713, PubMed:26370058, PubMed:25250574, PubMed:26417072). Plays a role in the regulation of actin filament length (By similarity). Required for normal sarcomere organization in the heart, and for normal heart function (PubMed:18403713).

Additional gene information for LMOD2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LMOD2 Gene

Genomics for LMOD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LMOD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LMOD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LMOD2

Top Transcription factor binding sites by QIAGEN in the LMOD2 gene promoter:
  • ATF
  • Evi-1
  • FOXD3
  • HOXA9
  • HOXA9B
  • LCR-F1
  • Meis-1
  • Meis-1b
  • TBP
  • TFIID

Genomic Locations for LMOD2 Gene

Genomic Locations for LMOD2 Gene
chr7:123,655,866-123,664,290
(GRCh38/hg38)
Size:
8,425 bases
Orientation:
Plus strand
chr7:123,295,861-123,304,344
(GRCh37/hg19)
Size:
8,484 bases
Orientation:
Plus strand

Genomic View for LMOD2 Gene

Genes around LMOD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMOD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMOD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMOD2 Gene

Proteins for LMOD2 Gene

  • Protein details for LMOD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6P5Q4-LMOD2_HUMAN
    Recommended name:
    Leiomodin-2
    Protein Accession:
    Q6P5Q4
    Secondary Accessions:
    • A4D0W9
    • A4D0Y2
    • Q8WVJ8

    Protein attributes for LMOD2 Gene

    Size:
    547 amino acids
    Molecular mass:
    61675 Da
    Quaternary structure:
    • Can bind at least three actin monomers and thereby provides a nucleus for actin filament formation (PubMed:18403713, PubMed:26417072). Interacts (via N-terminus) with tropomyosin alpha (TPM1) (via N-terminus) (PubMed:25250574, PubMed:26873245). May also interact with TPM2 (via N-terminus) (PubMed:25250574).
    SequenceCaution:
    • Sequence=AAH17911.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH62765.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305}; Sequence=AAH62765.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=EAL24334.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=EAL24335.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for LMOD2 Gene

    Alternative splice isoforms for LMOD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMOD2 Gene

Post-translational modifications for LMOD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LMOD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for LMOD2 Gene

Domains & Families for LMOD2 Gene

Gene Families for LMOD2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for LMOD2 Gene

InterPro:
Blocks:
  • Actin-binding WH2
ProtoNet:

Suggested Antigen Peptide Sequences for LMOD2 Gene

GenScript: Design optimal peptide antigens:
  • Cardiac leiomodin (LMOD2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6P5Q4

UniProtKB/Swiss-Prot:

LMOD2_HUMAN :
  • Belongs to the tropomodulin family.
Family:
  • Belongs to the tropomodulin family.
genes like me logo Genes that share domains with LMOD2: view

Function for LMOD2 Gene

Molecular function for LMOD2 Gene

UniProtKB/Swiss-Prot Function:
Mediates nucleation of actin filaments and thereby promotes actin polymerization (PubMed:18403713, PubMed:26370058, PubMed:25250574, PubMed:26417072). Plays a role in the regulation of actin filament length (By similarity). Required for normal sarcomere organization in the heart, and for normal heart function (PubMed:18403713).

Phenotypes From GWAS Catalog for LMOD2 Gene

Gene Ontology (GO) - Molecular Function for LMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA,IDA 18403713
GO:0003785 actin monomer binding IMP 25250574
GO:0005523 tropomyosin binding IEA,IMP 25250574
genes like me logo Genes that share ontologies with LMOD2: view
genes like me logo Genes that share phenotypes with LMOD2: view

Animal Models for LMOD2 Gene

MGI Knock Outs for LMOD2:
  • Lmod2 Lmod2<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for LMOD2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMOD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for LMOD2 Gene

Localization for LMOD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMOD2 Gene

Cytoplasm, myofibril, sarcomere. Cytoplasm, myofibril. Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, cytoskeleton. Note=Colocalizes with actin filaments in sarcomeres. Detected close to the M line. {ECO:0000269 PubMed:18403713, ECO:0000269 PubMed:20685966, ECO:0000269 PubMed:26370058}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LMOD2 gene
Compartment Confidence
cytoskeleton 5
nucleus 2
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for LMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IBA 21873635
GO:0005865 striated muscle thin filament IBA 21873635
GO:0005884 actin filament IDA 26370058
GO:0030016 myofibril IBA,IDA 20685966
genes like me logo Genes that share ontologies with LMOD2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LMOD2 Gene

Pathways & Interactions for LMOD2 Gene

PathCards logo

SuperPathways for LMOD2 Gene

No Data Available

Interacting Proteins for LMOD2 Gene

Gene Ontology (GO) - Biological Process for LMOD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IBA 21873635
GO:0007015 actin filament organization IBA 21873635
GO:0030041 actin filament polymerization IEA --
GO:0030239 myofibril assembly IBA 21873635
GO:0030838 positive regulation of actin filament polymerization IDA 26370058
genes like me logo Genes that share ontologies with LMOD2: view

No data available for Pathways by source and SIGNOR curated interactions for LMOD2 Gene

Drugs & Compounds for LMOD2 Gene

No Compound Related Data Available

Transcripts for LMOD2 Gene

mRNA/cDNA for LMOD2 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LMOD2

Alternative Splicing Database (ASD) splice patterns (SP) for LMOD2 Gene

No ASD Table

Relevant External Links for LMOD2 Gene

GeneLoc Exon Structure for
LMOD2

Expression for LMOD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LMOD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LMOD2 Gene

This gene is overexpressed in Muscle - Skeletal (x21.8), Heart - Left Ventricle (x18.5), and Heart - Atrial Appendage (x11.6).

Protein differential expression in normal tissues from HIPED for LMOD2 Gene

This gene is overexpressed in Heart (41.4), Fetal heart (16.4), and Monocytes (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LMOD2 Gene



Protein tissue co-expression partners for LMOD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LMOD2

SOURCE GeneReport for Unigene cluster for LMOD2 Gene:

Hs.592260

mRNA Expression by UniProt/SwissProt for LMOD2 Gene:

Q6P5Q4-LMOD2_HUMAN
Tissue specificity: Specifically expressed in heart and skeletal muscles, with higher levels in heart (at protein level). Not expressed in other tissues.

Evidence on tissue expression from TISSUES for LMOD2 Gene

  • Muscle(4.8)
  • Heart(3.7)
genes like me logo Genes that share expression patterns with LMOD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for LMOD2 Gene

Orthologs for LMOD2 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMOD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LMOD2 30 31
  • 99.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LMOD2 31
  • 86 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia LMOD2 30 31
  • 85.5 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Lmod2 30 17 31
  • 85.21 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia LOC100909784 30
  • 84.47 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia LMOD2 31
  • 81 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia LMOD2 30 31
  • 79.1 (n)
OneToOne
Chicken
(Gallus gallus)
Aves LMOD2 30 31
  • 71.04 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia LMOD2 31
  • 62 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lmod2 30
  • 65.48 (n)
Zebrafish
(Danio rerio)
Actinopterygii lmod2b 30 31
  • 59.84 (n)
OneToMany
lmod2a 31
  • 54 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta tmod 31
  • 20 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-94 31
  • 23 (a)
ManyToMany
tmd-2 31
  • 16 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 38 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
Species where no ortholog for LMOD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for LMOD2 Gene

ENSEMBL:
Gene Tree for LMOD2 (if available)
TreeFam:
Gene Tree for LMOD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LMOD2: view image

Paralogs for LMOD2 Gene

Paralogs for LMOD2 Gene

(6) SIMAP similar genes for LMOD2 Gene using alignment to 2 proteins:

  • LMOD2_HUMAN
  • C9J8F4_HUMAN
genes like me logo Genes that share paralogs with LMOD2: view

Variants for LMOD2 Gene

Additional dbSNP identifiers (rs#s) for LMOD2 Gene

Structural Variations from Database of Genomic Variants (DGV) for LMOD2 Gene

Variant ID Type Subtype PubMed ID
esv3891198 CNV gain 25118596
nsv824296 CNV loss 20364138

Variation tolerance for LMOD2 Gene

Residual Variation Intolerance Score: 63.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.96; 36.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LMOD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMOD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LMOD2 Gene

Disorders for LMOD2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for LMOD2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
cardiomyopathy, familial hypertrophic, 6
  • cmh6
megacystis-microcolon-intestinal hypoperistalsis syndrome
  • visceral myopathy
congenital structural myopathy
dilated cardiomyopathy
  • cardiomyopathy, familial idiopathic
myopathy
  • muscular diseases
- elite association - COSMIC cancer census association via MalaCards
Search LMOD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for LMOD2

genes like me logo Genes that share disorders with LMOD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for LMOD2 Gene

Publications for LMOD2 Gene

  1. Localization of the binding interface between leiomodin-2 and α-tropomyosin. (PMID: 26873245) Colpan M … Kostyukova AS (Biochimica et biophysica acta 2016) 3 4
  2. How Leiomodin and Tropomodulin use a common fold for different actin assembly functions. (PMID: 26370058) Boczkowska M … Dominguez R (Nature communications 2015) 3 4
  3. Mechanisms of leiomodin 2-mediated regulation of actin filament in muscle cells. (PMID: 26417072) Chen X … Wang Q (Proceedings of the National Academy of Sciences of the United States of America 2015) 3 4
  4. Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. (PMID: 25250574) Yuen M … Clarke NF (The Journal of clinical investigation 2014) 3 4
  5. Different localizations and cellular behaviors of leiomodin and tropomodulin in mature cardiomyocyte sarcomeres. (PMID: 20685966) Skwarek-Maruszewska A … Lappalainen P (Molecular biology of the cell 2010) 3 4

Products for LMOD2 Gene

Sources for LMOD2 Gene