LMOD3 (leiomodin 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
56203
Gene name Gene Name - the full gene name approved by the HGNC.
Leiomodin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LMOD3
Synonyms (NCBI Gene) Gene synonyms aliases
NEM10
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p14.1
Summary Summary of gene provided in NCBI Entrez 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). Locali
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
SNP ID Visualize variation Clinical significance Consequence
rs199655993 C>A,T Pathogenic Coding sequence variant, missense variant
rs724159964 G>A Pathogenic Stop gained, coding sequence variant
rs724159965 C>A Pathogenic Stop gained, coding sequence variant
rs727502797 ->G Pathogenic Coding sequence variant, frameshift variant
rs727502798 GTT>- Pathogenic Coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(263)
miRTarBase ID miRNA Experiments Reference
MIRT017341 hsa-miR-335-5p Microarray 18185580
MIRT674280 hsa-miR-483-5p HITS-CLIP 23824327
MIRT674279 hsa-miR-3976 HITS-CLIP 23824327
MIRT674278 hsa-miR-4755-3p HITS-CLIP 23824327
MIRT515116 hsa-miR-193b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(26)
GO ID Ontology Definition Evidence Reference
GO:0003785 Function Actin monomer binding IMP 25250574
GO:0005515 Function Protein binding IPI 32296183
GO:0005523 Function Tropomyosin binding IBA
GO:0005523 Function Tropomyosin binding IEA
GO:0005523 Function Tropomyosin binding IMP 25250574
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
616112 6649 ENSG00000163380
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q0VAK6
Protein name Leiomodin-3 (Leiomodin, fetal form)
Protein function Essential for the organization of sarcomeric actin thin filaments in skeletal muscle (PubMed:25250574). Increases the rate of actin polymerization (PubMed:25250574).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03250 Tropomodulin 7 → 174 Tropomodulin Family
Tissue specificity TISSUE SPECIFICITY: Expressed in cardiac and at higher levels in skeletal muscles (at protein level). {ECO:0000269|PubMed:25250574}.
Sequence 
MSEHSRNSDQEELLDEEINEDEILANLSAEELKELQSEMEVMAPDPSLPVGMIQKDQTDK
PPTGNFNHKSLVDYMYWEKASRRMLEEERVPVTFVKSEEKTQEEHEEIEKRNKNMAQYLK
EKLNNEIVANKRESKGSSNIQETDEEDEEEEDDDDDDEGEDDGEESEETNREEEGKAKEQ
IRNCENNCQQVTDKAFKEQRDRPEAQEQSEKKISKLDPKKLALDTSFLKVSTRPSGNQTD
LDGSLRRVRKNDPDMKELNLNNIENIPKEMLLDFVNAMKKNKHIKTFSLANVGADENVAF
ALANMLRENRSITTLNIESNFITGKGIVAIMRCLQFNETLTELRFHNQRHMLGHHAEMEI
ARLLKANNTLLKMGYHFELPGPRMVVTNLLTRNQDKQRQKRQEEQKQQQLKEQKKLIAML
ENGLGLPPGMWELLGGPKPDSRMQEFFQPPPPRPPNPQNVPFSQRSEMMKKPSQAPKYRT
DPDSFRVVKLKRIQRKSRMPEAREPPEKTNLKDVIKTLKPVPRNRPPPLVEITPRDQLLN
DIRHSSVAYLKPVQLPKELA
Sequence length 560
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Cytoskeleton in muscle cells  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Nemaline myopathy nemaline myopathy 10 rs769824247, rs727502797, rs724159964, rs727502799, rs724159965, rs1057519128, rs1057519129, rs1426709672, rs1274699363, rs1368453406, rs199655993 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Nemaline Myopathy severe congenital nemaline myopathy N/A N/A GenCC
Joubert Syndrome joubert syndrome 24 N/A N/A ClinVar
Show/Hide Text Mining Associations (10)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthrogryposis Associate 33820833
Bone Diseases Developmental Associate 33820833
Disorders of Excessive Somnolence Associate 35299092
Fasciculation Associate 37956287
Fractures Bone Associate 28815944
Infant Newborn Diseases Associate 28815944
Kleine Levin Syndrome Associate 35299092
Myopathies Nemaline Associate 28815944, 37956287
Myopia Associate 36036911
Myotonia Congenita Associate 28815944