The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts ... See more...

Aliases for LMOD3 Gene

Aliases for LMOD3 Gene

  • Leiomodin 3 2 3 5
  • Leiomodin, Fetal Form 3 4
  • Leiomodin 3 (Fetal) 2 3
  • Leiomodin-3 3 4
  • NEM10 3

External Ids for LMOD3 Gene

Previous GeneCards Identifiers for LMOD3 Gene

  • GC03U990171
  • GC03M068979
  • GC03M069089
  • GC03M069238

Summaries for LMOD3 Gene

Entrez Gene Summary for LMOD3 Gene

  • The protein encoded by this gene is a member of the leiomodin family of proteins. This protein contains three actin-binding domains, a tropomyosin domain, a leucine-rich repeat domain, and a Wiskott-Aldrich syndrome protein homology 2 domain (WH2). Localization of this protein to the pointed ends of thin filaments has been observed, and there is evidence that this protein acts as a catalyst of actin nucleation, and is important to the organization of sarcomeric thin filaments in skeletal muscles. Mutations in this gene have been associated as one cause of Nemaline myopathy, as other genes have also been linked to this disorder. Nemaline myopathy is a disorder characterized by nonprogressive generalized muscle weakness and protein inclusions (nemaline bodies) in skeletal myofibers. Patients with mutations in this gene often present with a severe congenital form of the disorder. [provided by RefSeq, Jan 2015]

GeneCards Summary for LMOD3 Gene

LMOD3 (Leiomodin 3) is a Protein Coding gene. Diseases associated with LMOD3 include Nemaline Myopathy 10 and Typical Congenital Nemaline Myopathy. Gene Ontology (GO) annotations related to this gene include actin monomer binding and tropomyosin binding. An important paralog of this gene is LMOD2.

UniProtKB/Swiss-Prot Summary for LMOD3 Gene

  • Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574).

Gene Wiki entry for LMOD3 Gene

Additional gene information for LMOD3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LMOD3 Gene

Genomics for LMOD3 Gene

GeneHancer (GH) Regulatory Elements for LMOD3 Gene

Promoters and enhancers for LMOD3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03J069120 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 528.3 +1.1 1117 2.6 CTCF REST RAD21 EP300 TRIM22 SMC3 CEBPG CEBPB FOS RB1 LMOD3 EOGT piR-61945-357
GH03J069050 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 10.8 +71.4 71419 3.6 FOXK2 ZBTB40 ZNF217 EP300 SIN3A NRF1 POLR2G PHF8 JUND TEAD4 TMF1 lnc-ARL6IP5-6 UBA3 ARL6IP5 EOGT ENSG00000244513 LMOD3 MIR3136
GH03J069142 Enhancer 1.1 Ensembl ENCODE 23.3 -21.1 -21099 2.5 ZIC2 TRIM28 REST EP300 CTBP1 MYC ATF2 OSR2 HDAC2 NFRKB LMOD3 lnc-ARL6IP5-3 RF00017-4039
GH03J069287 Enhancer 1.3 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 16.1 -166.2 -166229 3.4 JUND TEAD4 HDAC2 ZNF341 POLR2A WT1 NFIC ZBTB17 FOS YY1 LMOD3 MITF piR-50443-261 lnc-LMOD3-1 FRMD4B
GH03J069324 Promoter/Enhancer 1.3 Ensembl ENCODE dbSUPER 15.7 -203.8 -203791 4.8 CTCF SP1 EP300 RELA RAD21 TRIM22 BCL11A TCF12 CBFB ZNF384 LMOD3 FRMD4B RF00017-4041 lnc-LMOD3-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LMOD3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LMOD3

Top Transcription factor binding sites by QIAGEN in the LMOD3 gene promoter:
  • aMEF-2
  • AML1a
  • C/EBPalpha
  • C/EBPbeta
  • ER-alpha
  • FAC1
  • GATA-1
  • Gfi-1
  • HTF
  • MEF-2A

Genomic Locations for LMOD3 Gene

Genomic Locations for LMOD3 Gene
chr3:69,106,872-69,123,032
(GRCh38/hg38)
Size:
16,161 bases
Orientation:
Minus strand
chr3:69,156,023-69,172,183
(GRCh37/hg19)
Size:
16,161 bases
Orientation:
Minus strand

Genomic View for LMOD3 Gene

Genes around LMOD3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LMOD3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LMOD3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LMOD3 Gene

Proteins for LMOD3 Gene

  • Protein details for LMOD3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VAK6-LMOD3_HUMAN
    Recommended name:
    Leiomodin-3
    Protein Accession:
    Q0VAK6
    Secondary Accessions:
    • B4DT85
    • Q0JTT2
    • Q5JPG6
    • Q8IUK4
    • Q96LS4

    Protein attributes for LMOD3 Gene

    Size:
    560 amino acids
    Molecular mass:
    64914 Da
    Quaternary structure:
    • May interact with tropomyosin alpha (TPM1/2) N-terminus (PubMed:25250574). Interacts with KLHL40; leading to stabilization (By similarity).
    SequenceCaution:
    • Sequence=AAH39202.1; Type=Miscellaneous discrepancy; Evidence={ECO:0000305};

    Alternative splice isoforms for LMOD3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for LMOD3 Gene

Post-translational modifications for LMOD3 Gene

  • Ubiquitinated, leading to its degradation. Interaction with KLHL40 negatively regulates ubiquitination and degradation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for LMOD3 Gene

No data available for DME Specific Peptides for LMOD3 Gene

Domains & Families for LMOD3 Gene

Gene Families for LMOD3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LMOD3 Gene

Blocks:
  • Actin-binding WH2
  • Tropomodulin
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for LMOD3 Gene

GenScript: Design optimal peptide antigens:
  • Leiomodin, fetal form (LMOD3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q0VAK6

UniProtKB/Swiss-Prot:

LMOD3_HUMAN :
  • Belongs to the tropomodulin family.
Family:
  • Belongs to the tropomodulin family.
genes like me logo Genes that share domains with LMOD3: view

Function for LMOD3 Gene

Molecular function for LMOD3 Gene

UniProtKB/Swiss-Prot Function:
Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574).

Phenotypes From GWAS Catalog for LMOD3 Gene

Gene Ontology (GO) - Molecular Function for LMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IMP 25250574
GO:0005523 tropomyosin binding IMP 25250574
genes like me logo Genes that share ontologies with LMOD3: view
genes like me logo Genes that share phenotypes with LMOD3: view

Human Phenotype Ontology for LMOD3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for LMOD3 Gene

Localization for LMOD3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LMOD3 Gene

Cytoplasm. Cytoplasm, myofibril, sarcomere, M line. Cytoplasm, myofibril, sarcomere, A band. Cytoplasm, cytoskeleton. Note=Highly expressed in nonstriated areas of developing myotubes, where it shows a granular cytoplasmic pattern. In sarcomeres, highly expressed in the M band region and, at lower levels, along actin thin filaments. Not detected in Z-disks. In sarcomeres, may be located near, but not at, actin thin filament pointed end. {ECO:0000269 PubMed:25250574}.

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 LMOD3 gene
Compartment Confidence
cytoskeleton 5
nucleus 2
cytosol 2
mitochondrion 0
peroxisome 0

Gene Ontology (GO) - Cellular Components for LMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 25250574
GO:0005856 cytoskeleton IEA --
GO:0005865 striated muscle thin filament IDA 25250574
GO:0030016 myofibril IBA 21873635
GO:0031430 M band IDA,IEA 25250574
genes like me logo Genes that share ontologies with LMOD3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for LMOD3 Gene

Pathways & Interactions for LMOD3 Gene

PathCards logo

SuperPathways for LMOD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction IBA 21873635
GO:0006941 striated muscle contraction IMP 25250574
GO:0030239 myofibril assembly IBA 21873635
GO:0030240 skeletal muscle thin filament assembly IMP 25250574
GO:0045010 actin nucleation IMP 25250574
genes like me logo Genes that share ontologies with LMOD3: view

No data available for Pathways by source and SIGNOR curated interactions for LMOD3 Gene

Drugs & Compounds for LMOD3 Gene

No Compound Related Data Available

Transcripts for LMOD3 Gene

mRNA/cDNA for LMOD3 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for LMOD3 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b
SP1:
SP2:

Relevant External Links for LMOD3 Gene

GeneLoc Exon Structure for
LMOD3

Expression for LMOD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LMOD3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for LMOD3 Gene

This gene is overexpressed in Muscle - Skeletal (x31.7), Heart - Left Ventricle (x13.5), and Heart - Atrial Appendage (x4.8).

Protein differential expression in normal tissues from HIPED for LMOD3 Gene

This gene is overexpressed in CD4 Tcells (45.6) and Heart (19.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for LMOD3 Gene



Protein tissue co-expression partners for LMOD3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LMOD3

SOURCE GeneReport for Unigene cluster for LMOD3 Gene:

Hs.350621

mRNA Expression by UniProt/SwissProt for LMOD3 Gene:

Q0VAK6-LMOD3_HUMAN
Tissue specificity: Expressed in cardiac and at higher levels in skeletal muscles (at protein level).

Evidence on tissue expression from TISSUES for LMOD3 Gene

  • Muscle(4.6)
  • Heart(4.5)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LMOD3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • nose
  • skull
  • tongue
Thorax:
  • lung
Pelvis:
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with LMOD3: view

Orthologs for LMOD3 Gene

This gene was present in the common ancestor of animals.

Orthologs for LMOD3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LMOD3 31 30
  • 99.35 (n)
OneToOne
cow
(Bos Taurus)
Mammalia LMOD3 31 30
  • 86.34 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LMOD3 31 30
  • 85.93 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Lmod3 17 31 30
  • 82.05 (n)
rat
(Rattus norvegicus)
Mammalia Lmod3 30
  • 81.73 (n)
oppossum
(Monodelphis domestica)
Mammalia LMOD3 31
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LMOD3 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC426075 30
  • 69.55 (n)
LMOD3 31
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMOD3 31
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lmod3 30
  • 67.64 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-90a13.7 30
  • 62.56 (n)
LMOD3 31
  • 45 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12383 30
fruit fly
(Drosophila melanogaster)
Insecta tmod 31
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-94 31
  • 22 (a)
ManyToMany
tmd-2 31
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
ManyToMany
-- 31
  • 34 (a)
ManyToMany
Species where no ortholog for LMOD3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 LMOD3 Gene

ENSEMBL:
Gene Tree for LMOD3 (if available)
TreeFam:
Gene Tree for LMOD3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LMOD3: view image

Paralogs for LMOD3 Gene

Paralogs for LMOD3 Gene

(5) SIMAP similar genes for LMOD3 Gene using alignment to 1 proteins:

  • LMOD3_HUMAN
genes like me logo Genes that share paralogs with LMOD3: view

Variants for LMOD3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LMOD3 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
642773 Uncertain Significance: Nemaline myopathy 10 69,119,075(-) G/A MISSENSE_VARIANT
643658 Uncertain Significance: Nemaline myopathy 10 69,119,023(-) C/A MISSENSE_VARIANT
646174 Uncertain Significance: Nemaline myopathy 10 69,122,121(-) C/T MISSENSE_VARIANT
652224 Uncertain Significance: Nemaline myopathy 10 69,120,063(-) A/G INTRON_VARIANT
653040 Uncertain Significance: Nemaline myopathy 10 69,122,227(-) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for LMOD3 Gene

Structural Variations from Database of Genomic Variants (DGV) for LMOD3 Gene

Variant ID Type Subtype PubMed ID
esv2762334 CNV gain 21179565
esv3596491 CNV gain 21293372
esv3596492 CNV loss 21293372

Variation tolerance for LMOD3 Gene

Residual Variation Intolerance Score: 89.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.70; 73.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LMOD3 Gene

Human Gene Mutation Database (HGMD)
LMOD3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LMOD3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LMOD3 Gene

Disorders for LMOD3 Gene

MalaCards: The human disease database

(22) MalaCards diseases for LMOD3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nemaline myopathy 10
  • nem10
typical congenital nemaline myopathy
  • typical nemaline myopathy
severe congenital nemaline myopathy
  • severe congenital nm
myopathy
  • muscular diseases
congenital structural myopathy
- elite association - COSMIC cancer census association via MalaCards
Search LMOD3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LMOD3_HUMAN
  • Nemaline myopathy 10 (NEM10) [MIM:616165]: An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy. {ECO:0000269 PubMed:25250574}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for LMOD3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with LMOD3: view

No data available for Genatlas for LMOD3 Gene

Publications for LMOD3 Gene

  1. 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 54
  2. Risperidone-related weight gain: genetic and nongenetic predictors. (PMID: 16633140) Lane HY … Chang WH (Journal of clinical psychopharmacology 2006) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. (PMID: 30291184) Schatz UA … Baumann M (Neurology 2018) 3 54

Products for LMOD3 Gene

Sources for LMOD3 Gene