Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	442721
Gene name	Leiomodin 2
Gene symbol	LMOD2
Synonyms (NCBI Gene)	C-LMODCLMODCMD2G
Chromosome	7
Chromosome location	7q31.32

11 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
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

28 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
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

MIM	HGNC	e!Ensembl
608006	6648	ENSG00000170807

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

KEGG Pathway
Cytoskeleton in muscle cells

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)

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

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal. Show/Hide Unknown Diseases (8)
DILATED CARDIOMYOPATHY	—	ClinGen, Disgenet	26487682, 26873245, 27274810, 31517052, 34888509, 35082396, 35188328, 37296576	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	35188328,31517052,35082396,34888509	★★★★★ ★★☆☆☆ 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	35771237	★★★★★ ★★☆☆☆ 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

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (13)
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

LMOD2 (leiomodin 2)

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