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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
  • 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. GO annotations related to this gene include actin monomer binding and tropomyosin binding. An important paralog of this gene is LMOD2.

UniProtKB/Swiss-Prot 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for LMOD3 Gene

Genomics for LMOD3 Gene

Regulatory Elements for LMOD3 Gene

Enhancers for LMOD3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G069121 1.2 Ensembl ENCODE dbSUPER 28.4 +0.7 711 1.8 CTCF PKNOX1 RNF2 JUN FEZF1 BCL11B ZNF843 FOXA1 ZNF664 CTBP1 LMOD3 EOGT GC03M069083
GH03G069287 1.6 FANTOM5 Ensembl ENCODE dbSUPER 16.1 -166.2 -166230 3.4 PKNOX1 NFIB FEZF1 GATA2 SCRT2 FOS RELB ETV6 IKZF2 CREM LMOD3 MITF RBM43P1
GH03G069324 1.4 Ensembl ENCODE dbSUPER 15.7 -203.8 -203792 4.8 TBP TBL1XR1 BMI1 YBX1 RAD21 ZNF366 CBX5 ZNF143 ZNF207 RELB LMOD3 FRMD4B RBM43P1
GH03G069270 0.7 dbSUPER 15.8 -148.3 -148302 1.4 MTA2 NR2F1 TRIM22 GATAD2B DPF2 TBX21 NFIC SMARCA4 EED IKZF1 LMOD3 RBM43P1
GH03G069281 0.9 ENCODE dbSUPER 11.2 -159.3 -159320 0.8 MTA2 MAX GATAD2B EBF1 DPF2 TBX21 NR2F2 IKZF1 ZSCAN5C NBN LMOD3 RBM43P1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around LMOD3 on UCSC Golden Path with GeneCards custom track

Genomic Location for LMOD3 Gene

Chromosome:
3
Start:
69,106,872 bp from pter
End:
69,123,032 bp from pter
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

Protein Domains for LMOD3 Gene

Suggested Antigen Peptide Sequences for LMOD3 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for LMOD3 Gene

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).

Gene Ontology (GO) - Molecular Function for LMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003785 actin monomer binding IEA --
GO:0005523 tropomyosin binding IEA --
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

Animal Model Products

Inhibitory RNA Products

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 4
nucleus 2
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for LMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0031430 M band IEA --
GO:0031672 A band IEA --
genes like me logo Genes that share ontologies with LMOD3: view

Pathways & Interactions for LMOD3 Gene

SuperPathways for LMOD3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for LMOD3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048741 skeletal muscle fiber development ISS --
GO:0051694 pointed-end actin filament capping IEA --
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

Unigene Clusters for LMOD3 Gene

Leiomodin 3 (fetal):
Representative Sequences:

Inhibitory RNA Products

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
ECgene alternative splicing isoforms for
LMOD3

Expression for LMOD3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for LMOD3 Gene



Protein tissue co-expression partners for LMOD3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of LMOD3 Gene:

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
Organs:
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

Primer Products

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 34 35
  • 99.35 (n)
cow
(Bos Taurus)
Mammalia LMOD3 34 35
  • 86.34 (n)
dog
(Canis familiaris)
Mammalia LMOD3 34 35
  • 85.93 (n)
mouse
(Mus musculus)
Mammalia Lmod3 34 16 35
  • 82.05 (n)
rat
(Rattus norvegicus)
Mammalia Lmod3 34
  • 81.73 (n)
oppossum
(Monodelphis domestica)
Mammalia LMOD3 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia LMOD3 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves LOC426075 34
  • 69.55 (n)
LMOD3 35
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia LMOD3 35
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia lmod3 34
  • 67.64 (n)
zebrafish
(Danio rerio)
Actinopterygii si:dkey-90a13.7 34
  • 62.56 (n)
LMOD3 35
  • 45 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12383 34
fruit fly
(Drosophila melanogaster)
Insecta tmod 35
  • 22 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-94 35
  • 22 (a)
ManyToMany
tmd-2 35
  • 15 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
ManyToMany
-- 35
  • 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)

Paralogs for LMOD3 Gene

Paralogs for LMOD3 Gene

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

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

Variants for LMOD3 Gene

Sequence variations from dbSNP and Humsavar for LMOD3 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
VAR_072643 Nemaline myopathy 10 (NEM10) [MIM:616165]
rs724159964 Pathogenic 69,119,154(-) AGAAA(C/T)GACAG reference, stop-gained
rs724159965 Pathogenic 69,119,286(-) ATGCT(G/T)AAATG reference, stop-gained
rs727502797 Pathogenic 69,122,248(-) ACCCC(-/C)AGCCT reference, frameshift-variant
rs727502798 Pathogenic 69,119,250(-) AAACA(-/ACA)CTCTC cds-indel

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)

Relevant External Links for LMOD3 Gene

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

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

Disorders for LMOD3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for LMOD3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, 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
lmod3-related nemaline myopathy
  • nemaline myopathy 10
nemaline myopathy
  • nemaline body disease
- 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.

Relevant External Links for LMOD3

Genetic Association Database (GAD)
LMOD3
Human Genome Epidemiology (HuGE) Navigator
LMOD3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
LMOD3
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 N.F. (J. Clin. Invest. 2014) 3 4 64
  2. Risperidone-related weight gain: genetic and nongenetic predictors. (PMID: 16633140) Lane H.Y. … Chang W.H. (J Clin Psychopharmacol 2006) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy. (PMID: 24960163) Garg A. … Olson E.N. (J. Clin. Invest. 2014) 3 64

Products for LMOD3 Gene

Sources for LMOD3 Gene

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