LMOD2
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Also known as C-Lmod
Summary
LMOD2 (leiomodin 2, HGNC:6648) is a protein-coding gene on chromosome 7q31.32, encoding Leiomodin-2 (Q6P5Q4). Mediates nucleation of actin filaments and thereby promotes actin polymerization.
Enables actin monomer binding activity and tropomyosin binding activity. Involved in actin nucleation; positive regulation of actin filament polymerization; and sarcomere organization. Located in M band and actin filament. Implicated in dilated cardiomyopathy 2G.
Source: NCBI Gene 442721 — RefSeq curated summary.
At a glance
- Gene–disease (curated): cardiomyopathy, dilated, 2G (Definitive, ClinGen) — +1 more curated relationship
- GWAS associations: 1
- Clinical variants (ClinVar): 102 total — 4 pathogenic, 3 likely-pathogenic
- Phenotypes (HPO): 31
- MANE Select transcript:
NM_207163
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6648 |
| Approved symbol | LMOD2 |
| Name | leiomodin 2 |
| Location | 7q31.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | C-Lmod |
| Ensembl gene | ENSG00000170807 |
| Ensembl biotype | protein_coding |
| OMIM | 608006 |
| Entrez | 442721 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000456238, ENST00000458573
RefSeq mRNA: 1 — MANE Select: NM_207163
NM_207163
CCDS: CCDS47693
Canonical transcript exons
ENST00000458573 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001136332 | 123661860 | 123663203 |
| ENSE00001835486 | 123655866 | 123656236 |
| ENSE00001899532 | 123663719 | 123664290 |
Expression profiles
Bgee: expression breadth ubiquitous, 153 present calls, max score 99.93.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 8.3499 / max 2674.0014, expressed in 103 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 80853 | 8.3499 | 103 |
Top tissues by expression
249 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ventricle myocardium | UBERON:0006566 | 99.93 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 99.86 | gold quality |
| biceps brachii | UBERON:0001507 | 99.76 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.76 | gold quality |
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.76 | gold quality |
| myocardium | UBERON:0002349 | 99.68 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.61 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.60 | gold quality |
| deltoid | UBERON:0001476 | 99.60 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.59 | gold quality |
| heart right ventricle | UBERON:0002080 | 99.45 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.40 | gold quality |
| tibialis anterior | UBERON:0001385 | 99.30 | gold quality |
| apex of heart | UBERON:0002098 | 99.23 | gold quality |
| body of tongue | UBERON:0011876 | 99.04 | gold quality |
| gastrocnemius | UBERON:0001388 | 98.90 | gold quality |
| cardiac atrium | UBERON:0002081 | 98.86 | gold quality |
| right atrium auricular region | UBERON:0006631 | 98.81 | gold quality |
| cardiac ventricle | UBERON:0002082 | 98.48 | gold quality |
| heart left ventricle | UBERON:0002084 | 98.46 | gold quality |
| vena cava | UBERON:0004087 | 97.90 | gold quality |
| muscle of leg | UBERON:0001383 | 97.32 | gold quality |
| muscle tissue | UBERON:0002385 | 93.57 | gold quality |
| heart | UBERON:0000948 | 93.31 | gold quality |
| tongue | UBERON:0001723 | 91.61 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 83.66 | gold quality |
| superior surface of tongue | UBERON:0007371 | 81.02 | gold quality |
| oral cavity | UBERON:0000167 | 75.81 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 73.54 | gold quality |
| buccal mucosa cell | CL:0002336 | 71.88 | silver quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 5.47 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting LMOD2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-335-3P | 99.93 | 73.36 | 4958 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-4699-3P | 99.71 | 70.15 | 3142 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-6516-3P | 99.65 | 68.57 | 1238 |
| HSA-MIR-4762-5P | 99.57 | 68.54 | 1424 |
| HSA-MIR-5007-3P | 99.51 | 68.14 | 1242 |
| HSA-MIR-216A-5P | 99.50 | 68.02 | 1288 |
| HSA-MIR-4506 | 99.34 | 67.47 | 526 |
| HSA-MIR-877-3P | 99.09 | 68.10 | 1637 |
| HSA-MIR-6881-3P | 98.04 | 68.24 | 1777 |
| HSA-MIR-1285-5P | 98.01 | 68.71 | 779 |
| HSA-MIR-1279 | 97.83 | 67.50 | 1898 |
| HSA-MIR-5196-3P | 97.57 | 65.98 | 979 |
| HSA-MIR-192-3P | 97.52 | 67.66 | 1001 |
| HSA-MIR-4445-5P | 97.21 | 66.16 | 832 |
Literature-anchored findings (GeneRIF, showing 8)
- study describes an actin-binding protein, leiomodin, that acted as a strong filament nucleator in muscle cells (PMID:18403713)
- The C-terminal extension of Lmod2 and C terminal of Tmod1 are sufficient to produce a filament nucleator. (PMID:26370058)
- Complementary functional studies suggest that the binding of Lmod2 stimulates ATP hydrolysis and accelerates actin nucleation and polymerization. (PMID:26417072)
- The mutation reduced binding affinity for both Lmod2 and Tmod1. The effect of the K15N mutation on Tpm1.1 binding to Lmod2 and Tmod1 provides a molecular rationale for the development of familial dilated cardiomyopathies . (PMID:26873245)
- Crystal Structure of Leiomodin 2 in Complex with Actin (PMID:28834725)
- Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy. (PMID:31517052)
- Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in LMOD2 Gene Causing Infantile Dilated Cardiomyopathy. (PMID:37296576)
- Human disease-causing mutations result in loss of leiomodin 2 through nonsense-mediated mRNA decay. (PMID:38748723)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lmod2a | ENSDARG00000045634 |
| danio_rerio | lmod2b | ENSDARG00000045864 |
| mus_musculus | Lmod2 | ENSMUSG00000029683 |
| rattus_norvegicus | Lmod2 | ENSRNOG00000045831 |
Paralogs (6): TMOD2 (ENSG00000128872), TMOD1 (ENSG00000136842), TMOD3 (ENSG00000138594), TMOD4 (ENSG00000163157), LMOD3 (ENSG00000163380), LMOD1 (ENSG00000163431)
Protein
Protein identifiers
Leiomodin-2 — Q6P5Q4 (reviewed: Q6P5Q4)
Alternative names: Cardiac leiomodin, Leiomodin
All UniProt accessions (2): Q6P5Q4, C9J8F4
UniProt curated annotations — full annotation on UniProt →
Function. Mediates nucleation of actin filaments and thereby promotes actin polymerization. Plays a role in the regulation of actin filament length. Required for normal sarcomere organization in the heart, and for normal heart function.
Subunit / interactions. Can bind at least three actin monomers and thereby provides a nucleus for actin filament formation. Interacts (via N-terminus) with tropomyosin alpha (TPM1) (via N-terminus). May also interact with TPM2 (via N-terminus). Interacts with FLII.
Subcellular location. Cytoplasm. Myofibril. Sarcomere. M line. Cytoskeleton.
Tissue specificity. Specifically expressed in heart and skeletal muscles, with higher levels in heart (at protein level). Not expressed in other tissues.
Disease relevance. Cardiomyopathy, dilated, 2G (CMD2G) [MIM:619897] A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2G is an autosomal recessive form characterized by early-onset, severe cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy. The disease is caused by variants affecting the gene represented in this entry.
Similarity. Belongs to the tropomodulin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q6P5Q4-1 | 1 | yes |
| Q6P5Q4-2 | 2 | |
| Q6P5Q4-3 | 3 |
RefSeq proteins (1): NP_997046* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003124 | WH2_dom | Domain |
| IPR004934 | TMOD | Family |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
Pfam: PF03250
UniProt features (63 total): helix 16, mutagenesis site 9, compositionally biased region 8, region of interest 6, strand 6, modified residue 4, splice variant 4, turn 4, sequence variant 2, coiled-coil region 2, chain 1, domain 1
Structure
Experimental structures (PDB)
3 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 4RWT | X-RAY DIFFRACTION | 2.98 |
| 5WFN | X-RAY DIFFRACTION | 3 |
| 6UT2 | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6P5Q4-F1 | 67.14 | 0.32 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (4): 11, 15, 24, 400
Mutagenesis-validated functional residues (9):
| Position | Phenotype |
|---|---|
| 64 | mildly impaired activity in promoting actin polymerization; when associated with d-69. |
| 69 | mildly impaired activity in promoting actin polymerization; when associated with d-64. |
| 72–73 | mildly impaired activity in promoting actin polymerization. |
| 284 | strongly impaired activity in promoting actin polymerization. |
| 304 | strongly impaired activity in promoting actin polymerization; when associated with g-334 and a-356. |
| 334 | strongly impaired activity in promoting actin polymerization; when associated with g-304 and a-356. |
| 356 | strongly impaired activity in promoting actin polymerization; when associated with g-304 and g-334. |
| 525–529 | strongly impaired activity in promoting actin polymerization. |
| 537–540 | strongly impaired activity in promoting actin polymerization. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 167 (showing top):
GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, DARWICHE_SKIN_TUMOR_PROMOTER_DN, DARWICHE_PAPILLOMA_RISK_LOW_UP, GOBP_NEGATIVE_REGULATION_OF_ACTIN_FILAMENT_DEPOLYMERIZATION, DARWICHE_PAPILLOMA_RISK_HIGH_DN, DARWICHE_SQUAMOUS_CELL_CARCINOMA_DN, GOBP_POSITIVE_REGULATION_OF_ORGANELLE_ORGANIZATION, GOBP_SARCOMERE_ORGANIZATION, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, GOBP_REGULATION_OF_ACTIN_FILAMENT_BASED_PROCESS, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE
GO Biological Process (8): muscle contraction (GO:0006936), actin filament organization (GO:0007015), actin filament polymerization (GO:0030041), myofibril assembly (GO:0030239), positive regulation of actin filament polymerization (GO:0030838), actin nucleation (GO:0045010), sarcomere organization (GO:0045214), pointed-end actin filament capping (GO:0051694)
GO Molecular Function (3): actin binding (GO:0003779), actin monomer binding (GO:0003785), tropomyosin binding (GO:0005523)
GO Cellular Component (7): cytoskeleton (GO:0005856), striated muscle thin filament (GO:0005865), actin filament (GO:0005884), myofibril (GO:0030016), sarcomere (GO:0030017), M band (GO:0031430), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| supramolecular fiber organization | 2 |
| actomyosin structure organization | 2 |
| cytoskeletal protein binding | 2 |
| actin cytoskeleton | 2 |
| muscle system process | 1 |
| actin cytoskeleton organization | 1 |
| actin polymerization or depolymerization | 1 |
| protein polymerization | 1 |
| cellular component assembly involved in morphogenesis | 1 |
| striated muscle cell development | 1 |
| membraneless organelle assembly | 1 |
| actin filament polymerization | 1 |
| regulation of actin filament polymerization | 1 |
| positive regulation of protein polymerization | 1 |
| positive regulation of cytoskeleton organization | 1 |
| positive regulation of supramolecular fiber organization | 1 |
| actin filament organization | 1 |
| myofibril assembly | 1 |
| actin filament capping | 1 |
| actin binding | 1 |
| intracellular membraneless organelle | 1 |
| sarcomere | 1 |
| myofilament | 1 |
| polymeric cytoskeletal fiber | 1 |
| contractile muscle fiber | 1 |
| myofibril | 1 |
| A band | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
750 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LMOD2 | NEB | P20929 | 619 |
| LMOD2 | COBL | O75128 | 599 |
| LMOD2 | JMY | Q8N9B5 | 525 |
| LMOD2 | PFN4 | Q8NHR9 | 513 |
| LMOD2 | MYOZ2 | Q9NPC6 | 502 |
| LMOD2 | ASB15 | Q8WXK1 | 497 |
| LMOD2 | WAS | P42768 | 495 |
| LMOD2 | PFN3 | P60673 | 494 |
| LMOD2 | SPIRE1 | Q08AE8 | 470 |
| LMOD2 | SPIRE2 | Q8WWL2 | 469 |
| LMOD2 | PFN1 | P07737 | 466 |
| LMOD2 | CAPZA1 | P52907 | 464 |
| LMOD2 | PXT1 | Q8NFP0 | 463 |
| LMOD2 | MYBPC1 | Q00872 | 455 |
| LMOD2 | WASL | O00401 | 447 |
IntAct
2 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| Mecom | ESYT2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (3): LMOD2 (Affinity Capture-MS), LMOD2 (Proximity Label-MS), LMOD2 (Affinity Capture-MS)
ESM2 similar proteins: A0A088MLT8, A0A0G2K0D3, A2AQ19, B3KU38, D3ZTQ1, E1BTG2, E6ZGB4, E9PSK7, O35274, O60271, O75151, O75376, P12755, P22682, P29536, P49140, Q08DA0, Q13191, Q3B7T9, Q3TTA7, Q3UHZ5, Q3USH5, Q3YEC7, Q4KKX4, Q58A65, Q5SFM8, Q5U3K5, Q60698, Q60974, Q62415, Q640N2, Q6P5Q4, Q6R891, Q70E73, Q80XA6, Q86YP4, Q8BVA4, Q8CHY6, Q8K4S7, Q8R3Y5
Diamond homologs: A0A0G2K0D3, A0JNC0, A1A5Q0, E1BTG2, E7F7X0, E9QA62, O01479, P28289, P29536, P49813, P70566, P70567, Q0VAK6, Q0VC48, Q3UHZ5, Q6P5Q4, Q8BVA4, Q9JHJ0, Q9JKK7, Q9JLH8, Q9NYL9, Q9NZQ9, Q9NZR1
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
102 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 4 |
| Likely pathogenic | 3 |
| Uncertain significance | 83 |
| Likely benign | 5 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (7)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1328520 | NM_207163.3(LMOD2):c.273+1G>A | Pathogenic |
| 1687094 | NM_207163.3(LMOD2):c.1193G>A (p.Trp398Ter) | Pathogenic |
| 1687095 | NM_207163.3(LMOD2):c.1243_1244del (p.Leu415fs) | Pathogenic |
| 1687096 | NM_207163.3(LMOD2):c.1537C>T (p.Arg513Ter) | Pathogenic |
| 2690637 | NM_207163.3(LMOD2):c.1446_1453dup (p.Val485fs) | Likely pathogenic |
| 2690638 | NM_207163.3(LMOD2):c.702del (p.Ala235fs) | Likely pathogenic |
| 3065785 | NM_207163.3(LMOD2):c.19del (p.Arg7fs) | Likely pathogenic |
SpliceAI
236 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:123661855:TTTA:T | acceptor_loss | 1.0000 |
| 7:123661857:TA:T | acceptor_loss | 1.0000 |
| 7:123661859:G:A | acceptor_loss | 1.0000 |
| 7:123656214:A:T | donor_gain | 0.9900 |
| 7:123656233:AAAGG:A | donor_loss | 0.9900 |
| 7:123656234:AAGGT:A | donor_loss | 0.9900 |
| 7:123656237:G:C | donor_loss | 0.9900 |
| 7:123656238:T:A | donor_loss | 0.9900 |
| 7:123661858:AG:A | acceptor_gain | 0.9900 |
| 7:123661859:GG:G | acceptor_gain | 0.9900 |
| 7:123661859:GGTT:G | acceptor_gain | 0.9900 |
| 7:123656075:G:GT | donor_gain | 0.9800 |
| 7:123661858:A:AG | acceptor_gain | 0.9800 |
| 7:123661859:G:GG | acceptor_gain | 0.9800 |
| 7:123661856:TTAGG:T | acceptor_gain | 0.9700 |
| 7:123661857:TAG:T | acceptor_gain | 0.9700 |
| 7:123661858:AGG:A | acceptor_gain | 0.9700 |
| 7:123661859:G:T | acceptor_gain | 0.9700 |
| 7:123656110:GC:G | donor_gain | 0.9600 |
| 7:123661855:TTTAG:T | acceptor_gain | 0.9600 |
| 7:123656108:GGGC:G | donor_gain | 0.9500 |
| 7:123656117:C:T | donor_gain | 0.9500 |
| 7:123656188:G:GT | donor_gain | 0.9400 |
| 7:123661852:C:G | acceptor_gain | 0.9400 |
| 7:123656109:GGC:G | donor_gain | 0.9300 |
| 7:123656213:G:GT | donor_gain | 0.9200 |
| 7:123656111:C:G | donor_gain | 0.9100 |
| 7:123661858:AGGTT:A | acceptor_gain | 0.9100 |
| 7:123661859:GGTTG:G | acceptor_gain | 0.9100 |
| 7:123661859:GGT:G | acceptor_gain | 0.9000 |
AlphaMissense
3623 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:123656037:T:C | L25P | 1.000 |
| 7:123656061:T:C | L33P | 1.000 |
| 7:123656169:T:C | L69P | 1.000 |
| 7:123662420:C:A | N278K | 1.000 |
| 7:123662420:C:G | N278K | 1.000 |
| 7:123656025:T:C | L21P | 0.999 |
| 7:123656028:T:A | L22H | 0.999 |
| 7:123656028:T:C | L22P | 0.999 |
| 7:123656052:T:C | L30P | 0.999 |
| 7:123656180:T:A | W73R | 0.999 |
| 7:123656180:T:C | W73R | 0.999 |
| 7:123662239:T:C | L218S | 0.999 |
| 7:123662243:C:A | N219K | 0.999 |
| 7:123662243:C:G | N219K | 0.999 |
| 7:123662246:C:A | N220K | 0.999 |
| 7:123662246:C:G | N220K | 0.999 |
| 7:123662293:T:C | L236P | 0.999 |
| 7:123662377:T:C | L264P | 0.999 |
| 7:123662415:T:C | S277P | 0.999 |
| 7:123662419:A:T | N278I | 0.999 |
| 7:123662488:T:C | L301P | 0.999 |
| 7:123662491:G:C | R302P | 0.999 |
| 7:123662581:G:A | G332E | 0.999 |
| 7:123662653:G:C | R356T | 0.999 |
| 7:123662654:G:C | R356S | 0.999 |
| 7:123662654:G:T | R356S | 0.999 |
| 7:123656037:T:A | L25Q | 0.998 |
| 7:123656061:T:A | L33Q | 0.998 |
| 7:123656169:T:A | L69Q | 0.998 |
| 7:123662233:T:A | V216D | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000061798 (7:123660432 A>C,G), RS1000327013 (7:123658198 A>G), RS1000927429 (7:123663899 A>G), RS1000971859 (7:123656353 A>G,T), RS1001209872 (7:123661558 A>C), RS1001359441 (7:123655058 T>A), RS1001661094 (7:123661873 A>C,T), RS1001711027 (7:123654465 T>C), RS1001766950 (7:123661678 T>C), RS1001838988 (7:123662892 C>G), RS1002454643 (7:123656364 C>G,T), RS1002652006 (7:123660367 T>C), RS1002768050 (7:123660160 T>C), RS1002936630 (7:123660280 C>T), RS1003215702 (7:123658304 T>C)
Disease associations
OMIM: gene MIM:608006 | disease phenotypes: MIM:619897
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| cardiomyopathy, dilated, 2G | Definitive | Autosomal recessive |
| dilated cardiomyopathy | Strong | Autosomal recessive |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| cardiomyopathy, dilated, 2G | Definitive | AR |
Mondo (3): cardiomyopathy, dilated, 2G (MONDO:0030887), familial isolated dilated cardiomyopathy (MONDO:0700335), dilated cardiomyopathy (MONDO:0005021)
Orphanet (1): Familial isolated dilated cardiomyopathy (Orphanet:154)
HPO phenotypes
31 total (30 of 31 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0000969 | Edema |
| HP:0001342 | Cerebral hemorrhage |
| HP:0001635 | Congestive heart failure |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001649 | Tachycardia |
| HP:0001653 | Mitral regurgitation |
| HP:0001659 | Aortic regurgitation |
| HP:0001727 | Thromboembolic stroke |
| HP:0002875 | Exertional dyspnea |
| HP:0003198 | Myopathy |
| HP:0003457 | EMG abnormality |
| HP:0003577 | Congenital onset |
| HP:0003811 | Neonatal death |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0005180 | Tricuspid regurgitation |
| HP:0011675 | Arrhythmia |
| HP:0011701 | Multifocal atrial tachycardia |
| HP:0011712 | Complete right bundle branch block |
| HP:0012378 | Fatigue |
| HP:0012666 | Severely reduced left ventricular ejection fraction |
| HP:0012764 | Orthopnea |
| HP:0025169 | Left ventricular systolic dysfunction |
| HP:0030149 | Cardiogenic shock |
| HP:0031295 | Left atrial enlargement |
| HP:0031318 | Myofiber disarray |
| HP:0031333 | Myocardial sarcomeric disarray |
| HP:0031676 | Monomorphic ventricular tachycardia |
| HP:0033008 | Increased Z-disc width |
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003657_4 | Attention deficit hyperactivity disorder symptom score | 3.000000e-06 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007860 | ADHD symptom measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002311 | Cardiomyopathy, Dilated | C14.280.195.160; C14.280.238.070; C16.320.488.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
14 total (human), top 14 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 5 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Ethanol | decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Benztropine | increases expression | 1 |
| Clozapine | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| Triclosan | decreases expression | 1 |
| Asbestos, Serpentine | decreases methylation | 1 |
Clinical trials (associated diseases)
158 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00374465 | PHASE4 | UNKNOWN | Therapy With Verapamil or Carvedilol in Chronic Heart Failure |
| NCT01293903 | PHASE4 | COMPLETED | Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy |
| NCT01557140 | PHASE4 | COMPLETED | A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy |
| NCT01917149 | PHASE4 | COMPLETED | Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy |
| NCT02115581 | PHASE4 | COMPLETED | Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy |
| NCT06236022 | PHASE4 | RECRUITING | The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus |
| NCT00333827 | PHASE3 | COMPLETED | Cell Therapy In Dilated Cardiomyopathy |
| NCT00505154 | PHASE3 | COMPLETED | Effect of Rosuvastatin on Left Ventricular Remodeling |
| NCT01223703 | PHASE3 | COMPLETED | PUFAs and Left Ventricular Function in Heart Failure |
| NCT01583114 | PHASE3 | TERMINATED | PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors |
| NCT01914081 | PHASE3 | UNKNOWN | Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside |
| NCT02989181 | PHASE3 | UNKNOWN | Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea |
| NCT03439514 | PHASE3 | TERMINATED | A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation |
| NCT05237323 | PHASE3 | COMPLETED | Micophenolate Mofetil Versus Azathioprine in Myocarditis |
| NCT05849766 | PHASE3 | COMPLETED | Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction |
| NCT06250257 | PHASE3 | RECRUITING | Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age |
| NCT00629018 | PHASE2 | COMPLETED | Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy |
| NCT00629096 | PHASE2 | COMPLETED | Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy |
| NCT00765518 | PHASE2 | COMPLETED | Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM) |
| NCT00847964 | PHASE2 | COMPLETED | Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery |
| NCT01020968 | PHASE2 | COMPLETED | Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy |
| NCT01302171 | PHASE2 | COMPLETED | Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy |
| NCT01350310 | PHASE2 | COMPLETED | Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy |
| NCT02133911 | PHASE2 | COMPLETED | A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy |
| NCT03071653 | PHASE2 | SUSPENDED | Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study |
| NCT03572660 | PHASE2 | ACTIVE_NOT_RECRUITING | Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM |
| NCT03775070 | PHASE2 | COMPLETED | Simvastatin Therapy in Patients With Dilated Cardiomyopathy. |
| NCT04405804 | PHASE2 | UNKNOWN | Early Administration of Ivabradine in Children With Heart Failure |
| NCT05410873 | PHASE2 | COMPLETED | Examining the Effects of Mitochondrial Oxidative Stress in DCM |
| NCT06632834 | PHASE2 | RECRUITING | Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation |
| NCT00585546 | PHASE1 | TERMINATED | Harefield Recovery Protocol Study for Patients With Refractory Chronic Heart Failure |
| NCT02293603 | PHASE1 | UNKNOWN | Dilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC) |
| NCT03062956 | PHASE1 | COMPLETED | A Single Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of MYK-491 |
| NCT03129568 | PHASE1 | COMPLETED | Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy |
| NCT04982081 | PHASE1 | UNKNOWN | Treating Congestive HF With hiPSC-CMs Through Endocardial Injection |
| NCT06381466 | PHASE1 | TERMINATED | A Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants. |
| NCT06464588 | PHASE1 | RECRUITING | A Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM) |
| NCT06902896 | PHASE1 | COMPLETED | Safety and Efficacy of FAP iCDC in End-stage Dilated Cardiomyopathy |
| NCT07137338 | PHASE1 | RECRUITING | A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy |
| NCT07241104 | PHASE1 | RECRUITING | A Study of AZD4063 in PLN R14del Dilated Cardiomyopathy |
Related Atlas pages
- Associated diseases: cardiomyopathy, dilated, 2G, dilated cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): cardiomyopathy, dilated, 2G, dilated cardiomyopathy, familial isolated dilated cardiomyopathy