LMOD2 (leiomodin 2)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 442721
Gene name Leiomodin 2
Gene symbol LMOD2
Synonyms (NCBI Gene)
C-LMODCLMODCMD2G
Chromosome 7
Chromosome location 7q31.32
miRNA miRNA information provided by mirtarbase database.
11
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (11)
miRTarBase ID miRNA Experiments Reference
MIRT536278 hsa-miR-5692a PAR-CLIP 22012620
MIRT536277 hsa-miR-944 PAR-CLIP 22012620
MIRT536276 hsa-miR-3163 PAR-CLIP 22012620
MIRT536275 hsa-miR-137 PAR-CLIP 22012620
MIRT536278 hsa-miR-5692a PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IDA 18403713, 20685966, 26370058
GO:0003779 Function Actin binding IEA
GO:0003785 Function Actin monomer binding IMP 25250574
GO:0005523 Function Tropomyosin binding IBA
GO:0005523 Function Tropomyosin binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608006 6648 ENSG00000170807
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6P5Q4
Protein name Leiomodin-2 (Cardiac leiomodin) (C-LMOD) (Leiomodin)
Protein function Mediates nucleation of actin filaments and thereby promotes actin polymerization (PubMed:18403713, PubMed:25250574, PubMed:26370058, PubMed:26417072). Plays a role in the regulation of actin filament length (By similarity). Required for normal s
PDB 4RWT , 5WFN , 6UT2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03250 Tropomodulin 6 → 148 Tropomodulin Family
Tissue specificity TISSUE SPECIFICITY: Specifically expressed in heart and skeletal muscles, with higher levels in heart (at protein level). Not expressed in other tissues. {ECO:0000269|PubMed:11318603, ECO:0000269|PubMed:25250574}.
Sequence 
MSTFGYRRGLSKYESIDEDELLASLSAEELKELERELEDIEPDRNLPVGLRQKSLTEKTP
TGTFSREALMAYWEKESQKLLEKERLGECGKVAEDKEESEEELIFTESNSEVSEEVYTEE
EEEESQEEEEEEDSDEEERTIETAKGINGTVNYDSVNSDNSKPKIFKSQIENINLTNGSN
GRNTESPAAIHPCGNPTVIEDALDKIKSNDPDTTEVNLNNIENITTQTLTRFAEALKDNT
VVKTFSLANTHADDSAAMAIAEMLKVNEHITNVNVESNFITGKGILAIMRALQHNTVLTE
LRFHNQRHIMGSQVEMEIVKLLKENTTLLRLGYHFELPGPRMSMTSILTRNMDKQRQKRL
QEQKQQEGYDGGPNLRTKVWQRGTPSSSPYVSPRHSPWSSPKLPKKVQTVRSRPLSPVAT
PPPPPPPPPPPPPSSQRLPPPPPPPPPPLPEKKLITRNIAEVIKQQESAQRALQNGQKKK
KGKKVKKQPNSILKEIKNSLRSVQEKKMEDSSRPSTPQRSAHENLMEAIRGSSIKQLKRV
EVPEALR
Sequence length 547
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Cytoskeleton in muscle cells  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
11
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cardiomyopathy, dilated, 2G Pathogenic; Likely pathogenic rs2116731333, rs757677006, rs1175931250, rs201276725, rs2536071477, rs1418347571, rs2536065778 RCV002250430
RCV002250431
RCV002250432
RCV002250433
RCV003493234
RCV003493235
RCV003990862
Familial isolated dilated cardiomyopathy Pathogenic rs2116731333 RCV001797004
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
LMOD2-related condition Uncertain significance rs61738540 RCV004731589
Uterine carcinosarcoma Benign rs7809453 RCV005921878
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cardiomyopathies Associate 37296576
Cardiomyopathy Dilated Associate 35082396, 37296576, 39437564
familial dilated cardiomyopathy Associate 26873245
Heart Diseases Associate 35082396
Heart Failure Associate 37296576