LMOD2 (leiomodin 2)

Gene

• Entrez ID: 442721
• Gene name: Leiomodin 2
• Gene symbol: LMOD2
• Synonyms (NCBI Gene): C-LMOD, CLMOD, CMD2G
• Chromosome: 7
• Chromosome location: 7q31.32

miRNA

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
MIRT536277	hsa-miR-944	PAR-CLIP	22012620
MIRT536276	hsa-miR-3163	PAR-CLIP	22012620
MIRT536275	hsa-miR-137	PAR-CLIP	22012620
MIRT1112025	hsa-miR-3673	CLIP-seq
MIRT1112026	hsa-miR-4753-3p	CLIP-seq
MIRT1112027	hsa-miR-9	CLIP-seq

Gene ontology (GO)

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
GO:0005523	Function	Tropomyosin binding	IMP	25250574
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005865	Component	Striated muscle thin filament	IBA
GO:0005884	Component	Actin filament	IDA	26370058
GO:0006936	Process	Muscle contraction	IBA
GO:0007015	Process	Actin filament organization	IBA
GO:0030016	Component	Myofibril	IBA
GO:0030016	Component	Myofibril	IDA	20685966
GO:0030016	Component	Myofibril	IEA
GO:0030017	Component	Sarcomere	IDA	18403713, 20685966, 26370058
GO:0030017	Component	Sarcomere	IEA
GO:0030041	Process	Actin filament polymerization	IEA
GO:0030239	Process	Myofibril assembly	IBA
GO:0030838	Process	Positive regulation of actin filament polymerization	IDA	26370058
GO:0031430	Component	M band	IDA	18403713, 20685966
GO:0031430	Component	M band	IEA
GO:0045010	Process	Actin nucleation	IDA	20685966, 26370058
GO:0045010	Process	Actin nucleation	IMP	25250574
GO:0045214	Process	Sarcomere organization	IEA
GO:0045214	Process	Sarcomere organization	IMP	18403713
GO:0051694	Process	Pointed-end actin filament capping	IEA

Other IDs

• MIM: 608006
• HGNC: 6648
• e!Ensembl: ENSG00000170807

Protein

• UniProt ID: 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

Pathways

KEGG:

Cytoskeleton in muscle cells

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cardiomyopathy, dilated, 2G	Pathogenic; Likely pathogenic	rs2116731333, rs757677006, rs1175931250, rs201276725, rs2536071477, rs1418347571, rs2536065778	RCV002250430 RCV002250431 RCV002250432 RCV002250433 RCV003493234 RCV003493235 RCV003990862	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial isolated dilated cardiomyopathy	Pathogenic	rs2116731333	RCV001797004	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DILATED CARDIOMYOPATHY	—	ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LMOD2-related condition	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONORGANIC PSYCHOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cardiomyopathies	Cardiomyopathy	Pubtator	37296576	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	35082396, 37296576, 39437564	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	30462572, 31517052		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30102883		★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	26873245	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	35082396	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30102883		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	37296576	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	30462572		★☆☆☆☆ Found in Text Mining only
Intestinal Volvulus	Intestinal Volvulus	BEFREE	30841858		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	PSYGENET_DG	19254430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	PSYGENET_DG	19254430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19254430		★★☆☆☆ Found in Text Mining + Unknown/Other Associations