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Gene: LMOD3 (leiomodin 3) Homo sapiens
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Symbol: LMOD3
Name: leiomodin 3
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp313F0135; leiomodin 3 (fetal); leiomodin, fetal form; leiomodin-3; NEM10
Orthologs:
Mus musculus (house mouse) : Lmod3 (leiomodin 3 (fetal))  MGI  Alliance
Rattus norvegicus (Norway rat) : Lmod3 (leiomodin 3)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Lmod3 (leiomodin 3)
Pan paniscus (bonobo/pygmy chimpanzee) : LMOD3 (leiomodin 3)
Canis lupus familiaris (dog) : LMOD3 (leiomodin 3)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Lmod3 (leiomodin 3)
Sus scrofa (pig) : LMOD3 (leiomodin 3)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38369,106,872 - 69,122,595 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37369,156,039 - 69,171,746 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36369,238,730 - 69,254,407 (-)NCBINCBI36hg18NCBI36
Celera369,084,149 - 69,099,857 (-)NCBI
Cytogenetic Map3p14.1NCBI
HuRef369,157,117 - 69,172,666 (-)NCBIHuRef
CHM1_1369,109,040 - 69,122,963 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on LMOD3
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1603025
Created: 2007-04-28
Species: Homo sapiens
Last Modified: 2019-09-12
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.