LMOD3 - leiomodin 3 Gene

Also Known as NEM10

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 56203

About LMOD3

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:69,106,065-69,122,595 (from NCBI)

This gene has 3 transcripts (splice variants), 195 orthologues, 6 paralogues and is associated with 4 phenotypes. Biased expression in heart (RPKM 44.5), prostate (RPKM 4.8) and 1 other tissue.

Summary

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]

LMOD3 Products (2)

mRNA	Protein	Name
NM_001304418.3	NP_001291347.1	leiomodin-3
NM_198271.5	NP_938012.2	leiomodin-3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables actin monomer binding	IMP IMP: Inferred from mutant phenotype	25250574	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables tropomyosin binding	IMP IMP: Inferred from mutant phenotype	25250574	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in actin nucleation	IMP IMP: Inferred from mutant phenotype	25250574	GOA
involved in positive regulation of skeletal muscle fiber development	IMP IMP: Inferred from mutant phenotype	25250574	GOA
involved in skeletal muscle thin filament assembly	IMP IMP: Inferred from mutant phenotype	25250574	GOA
involved in striated muscle contraction	IMP IMP: Inferred from mutant phenotype	25250574	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in M band	IDA IDA: Inferred from direct assay	25250574	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	25250574	GOA
located in striated muscle thin filament	IDA IDA: Inferred from direct assay	25250574	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

LMOD3 Protein Structure

Tropomodulin

0
100
200
300
400
500
560 a.a.

Protein Preferred Names	Protein Names
leiomodin-3	leiomodin 3 (fetal)

Related Diseases

Diseases	Alias
Nemaline Myopathy 10	NEM10 Myopathy, Nemaline, Type 10
Typical Congenital Nemaline Myopathy	Typical Nemaline Myopathy
Severe Congenital Nemaline Myopathy	Severe Congenital Nm
Myopathy	Muscular Diseases Myopathies
Congenital Structural Myopathy
Kleine-Levin Hibernation Syndrome	Kleine-Levin Syndrome Familial Kleine-Levin Syndrome Kleine Levin Syndrome Familial Hibernation Syndrome Recurrent Hypersomnolence Hypersomnia-Bulimia Syndrome
Recurrent Hypersomnia	Primary Recurrent Hypersomnia Hypersomnia Recurrent Disorders Of Excessive Somnolence Hypersomnia, Recurrent
Neuronopathy, Distal Hereditary Motor, Type Iia	HMN2A Hmn Iia Neuropathy, Distal Hereditary Motor, Type Iia Dhmn2a Distal Hereditary Motor Neuronopathy Type 2a Distal Hereditary Motor Neuropathy Type Iia Neuronopathy, Distal Hereditary Motor, Type 2a Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia Charcot-Marie-Tooth Disease, Spinal, Iia Autosomal Dominant Adult Spinal Muscular Atrophy Iia Spinal Charcot-Marie-Tooth Disease Iia Neuronopathy, Distal Hereditary Motor, 2a Charcot-Marie-Tooth Disease Spinal Iia Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia Neuropathy, Motor, Distal, Hereditary, Type 2a
Cardiomyopathy, Dilated, 2a	Dilated Cardiomyopathy 2a CMD2A Cardiomyopathy, Dilated, Autosomal Recessive Cardiomyopathy, Congestive, Autosomal Recessive Cardiomyopathy, Dilated 2a Cardiomyopathy, Dilated, Type 2a Autosomal Recessive Dilated Cardiomyopathy
Polyhydramnios
Nemaline Myopathy 8	NEM8 Nemaline Myopathy 8, Autosomal Recessive Myopathy, Nemaline, Type 8
Cardiomyopathy, Dilated, 1ff	Dilated Cardiomyopathy 1ff CMD1FF Cardiomyopathy, Dilated 1ff Cardiomyopathy, Dilated, Type 1ff
Congenital Contractures	Congenital Contracture
Spinal Muscular Atrophy Type 0	Very Severe Spinal Muscular Atrophy
Nemaline Myopathy 2	NEM2 Nemaline Myopathy 2, Autosomal Recessive Nemaline Myopathy, Type 2 Neb-Related Nemaline Myopathy Myopathy, Nemaline, Type 2
Nemaline Myopathy 5	Amish Nemaline Myopathy NEM5 Anm Nemaline Myopathy, Amish Type Nemaline Myopathy 5, Amish Type Nemaline Myopathy, Caused By Mutation In The Troponin T1 Gene Nemaline Myopathy, Type 5 Nemaline Myopathy Amish Type Tnnt1-Related Nemaline Myopathy Myopathy, Nemaline, Type 5
Nemaline Myopathy 11, Autosomal Recessive	NEM11 Nemaline Myopathy 11
Nemaline Myopathy 9	NEM9 Myopathy, Nemaline, Type 9
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Berdon Syndrome MMIHS Megacystis Microcolon Intestinal Hypoperistalsis Syndrome Megacystis, Microcolon, Hypoperistalsis Syndrome Visceral Myopathy Mmih Syndrome Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome MMIHS1 Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih Mmhs
Respiratory Failure	Acute Respiratory Failure Chronic Respiratory Failure Respiratory Insufficiency Acute-On-Chronic Respiratory Failure Respiratory Disease Acute And Chronic Respiratory Failure Respiratory Insufficiency/Failure Chronic Respiratory Disease Pulmonary Valve Insufficiency Chronic Disease Of Respiratory System Respiration Disorders Respiratory Tract Diseases Lung Failure Nos Pulmonary Failure Arf - [Acute Respiratory Failure] Acute Respiratory Insufficiency Acute Pulmonary Insufficiency Acute Respiration Failure Chronic Respiration Failure
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Locked-In Syndrome	Locked In Syndrome Cerebromedullospinal Disconnection Locked-In State Quadriplegia
Myopathy, Spheroid Body	Spheroid Body Myopathy Autosomal Dominant Spheroid Body Myopathy SBM
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Neonatal Respiratory Failure	Respiratory Failure Of Newborn Inadequate Pulmonary Ventilation Of Newborn Newborn Lung Insufficiency Newborn Pulmonary Function Inadequate Newborn Pulmonary Insufficiency Newborn Respiration Failure Newborn Respiratory Insufficiency Respiratory Insufficiency Syndrome Of Newborn
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS07724	LMOD3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	LMOD3	VGNC	VGNC:68075
Mus musculus	LMOD3	MGD	MGI:2444169
Canis familiaris	LMOD3	VGNC	VGNC:42726
Macaca mulatta	LMOD3	VGNC	VGNC:74435
Bos taurus	LMOD3	VGNC	VGNC:30940
Rattus norvegicus	LMOD3	RGD	RGD:1564924
Others	LMOD3	NCBI