LAMA4

gene
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Also known as LAMA3

Summary

LAMA4 (laminin subunit alpha 4, HGNC:6484) is a protein-coding gene on chromosome 6q21, encoding Laminin subunit alpha-4 (Q16363). Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Laminins, a family of extracellular matrix glycoproteins, are the major noncollagenous constituent of basement membranes. They have been implicated in a wide variety of biological processes including cell adhesion, differentiation, migration, signaling, neurite outgrowth and metastasis. Laminins are composed of 3 non identical chains: laminin alpha, beta and gamma (formerly A, B1, and B2, respectively) and they form a cruciform structure consisting of 3 short arms, each formed by a different chain, and a long arm composed of all 3 chains. Each laminin chain is a multidomain protein encoded by a distinct gene. Several isoforms of each chain have been described. Different alpha, beta and gamma chain isomers combine to give rise to different heterotrimeric laminin isoforms which are designated by Arabic numerals in the order of their discovery, i.e. alpha1beta1gamma1 heterotrimer is laminin 1. The biological functions of the different chains and trimer molecules are largely unknown, but some of the chains have been shown to differ with respect to their tissue distribution, presumably reflecting diverse functions in vivo. This gene encodes the alpha chain isoform laminin, alpha 4. The domain structure of alpha 4 is similar to that of alpha 3, both of which resemble truncated versions of alpha 1 and alpha 2, in that approximately 1,200 residues at the N-terminus (domains IV, V and VI) have been lost. Laminin, alpha 4 contains the C-terminal G domain which distinguishes all alpha chains from the beta and gamma chains. The RNA analysis from adult and fetal tissues revealed developmental regulation of expression, however, the exact function of laminin, alpha 4 is not known. Tissue-specific utilization of alternative polyA-signal has been described in literature. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Source: NCBI Gene 3910 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): junctional epidermolysis bullosa (Definitive, GenCC) — +8 more curated relationships
  • GWAS associations: 16
  • Clinical variants (ClinVar): 4,541 total — 126 pathogenic, 137 likely-pathogenic
  • Phenotypes (HPO): 18
  • Druggable target: yes
  • Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity unscored
  • MANE Select transcript: NM_001105206

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:6484
Approved symbolLAMA4
Namelaminin subunit alpha 4
Location6q21
Locus typegene with protein product
StatusApproved
AliasesLAMA3
Ensembl geneENSG00000112769
Ensembl biotypeprotein_coding
OMIM600133
Entrez3910

Gene structure

Transcript identifiers

Ensembl transcripts: 32 — 23 protein_coding, 5 retained_intron, 2 protein_coding_CDS_not_defined, 2 nonsense_mediated_decay

ENST00000230538, ENST00000243219, ENST00000368638, ENST00000368640, ENST00000389463, ENST00000423735, ENST00000424408, ENST00000431543, ENST00000453937, ENST00000455073, ENST00000518842, ENST00000519245, ENST00000519932, ENST00000521187, ENST00000521398, ENST00000521690, ENST00000521693, ENST00000521732, ENST00000522006, ENST00000523765, ENST00000524032, ENST00000604740, ENST00000651529, ENST00000651860, ENST00000905054, ENST00000905055, ENST00000905056, ENST00000905057, ENST00000905058, ENST00000905059, ENST00000951658, ENST00000951659

RefSeq mRNA: 5 — MANE Select: NM_001105206 NM_001105206, NM_001105207, NM_001105208, NM_001105209, NM_002290

CCDS: CCDS34514, CCDS43491, CCDS43492

Canonical transcript exons

ENST00000230538 — 39 exons

ExonStartEnd
ENSE00000762308112114076112114195
ENSE00000762309112114663112114756
ENSE00000762311112117739112117898
ENSE00000762312112119156112119311
ENSE00000762313112120283112120472
ENSE00000762314112122014112122201
ENSE00000762316112129876112130040
ENSE00000762317112130968112131101
ENSE00000762318112132753112132890
ENSE00000762319112133349112133487
ENSE00000762320112134467112134609
ENSE00000762322112136123112136254
ENSE00000762324112139120112139291
ENSE00000762326112139752112139885
ENSE00000762328112140760112140922
ENSE00000762329112141358112141503
ENSE00000762330112142119112142292
ENSE00000762333112150511112150627
ENSE00000762334112154851112154947
ENSE00000762335112155565112155706
ENSE00000762336112158732112158880
ENSE00000762337112165160112165276
ENSE00000762338112172611112172804
ENSE00000762340112178121112178232
ENSE00000762341112185237112185347
ENSE00000762342112187450112187601
ENSE00000762343112189110112189205
ENSE00000762344112191636112191850
ENSE00000839988112115863112115993
ENSE00000919069112253956112254291
ENSE00001447682112254459112254567
ENSE00001942586112107931112109582
ENSE00003529949112128922112129075
ENSE00003540024112216368112216469
ENSE00003554997112207021112207145
ENSE00003640406112144794112144933
ENSE00003644431112201608112201688
ENSE00003645036112148157112148336
ENSE00003683085112175313112175480

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 98.98.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 30.1195 / max 451.0453, expressed in 1105 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter IDTPM avgSamples expressed
7516113.28151003
7516011.72701019
751592.6815808
751630.7963331
751580.5730278
751560.4927267
751620.3332206
751570.234197

Top tissues by expression

290 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
lower esophagus muscularis layerUBERON:003583398.98gold quality
lower esophagusUBERON:001347398.95gold quality
nerveUBERON:000102198.84gold quality
tibial nerveUBERON:000132398.84gold quality
left uterine tubeUBERON:000130398.82gold quality
peritoneumUBERON:000235898.67gold quality
omental fat padUBERON:001041498.67gold quality
adipose tissue of abdominal regionUBERON:000780898.62gold quality
esophagogastric junction muscularis propriaUBERON:003584198.53gold quality
colonic epitheliumUBERON:000039798.47gold quality
smooth muscle tissueUBERON:000113598.46gold quality
parietal pleuraUBERON:000240098.37gold quality
body of uterusUBERON:000985398.33gold quality
sural nerveUBERON:001548898.11gold quality
muscle layer of sigmoid colonUBERON:003580598.08gold quality
adipose tissueUBERON:000101397.95gold quality
germinal epithelium of ovaryUBERON:000130497.86gold quality
saphenous veinUBERON:000731897.76gold quality
pleuraUBERON:000097797.75gold quality
tendon of biceps brachiiUBERON:000818897.65gold quality
subcutaneous adipose tissueUBERON:000219097.63gold quality
dorsal root ganglionUBERON:000004497.60gold quality
trigeminal ganglionUBERON:000167597.59gold quality
connective tissueUBERON:000238497.58gold quality
myometriumUBERON:000129697.50gold quality
vena cavaUBERON:000408797.13gold quality
urethraUBERON:000005797.12gold quality
upper lobe of left lungUBERON:000895297.12gold quality
synovial jointUBERON:000221797.09gold quality
endocervixUBERON:000045897.06gold quality

Single-cell (SCXA)

Detected in 17 experiment(s), a significant marker in 15.

ExperimentMarker?Max mean expression
E-HCAD-10yes47.82
E-ANND-3yes18.96
E-HCAD-1yes17.29
E-MTAB-8410yes16.73
E-MTAB-6701yes16.26
E-CURD-112yes14.05
E-MTAB-5061yes11.60
E-GEOD-84465yes9.33
E-CURD-46yes8.63
E-HCAD-35yes8.48
E-MTAB-9067yes7.78
E-GEOD-83139yes7.77
E-GEOD-130148yes7.19
E-GEOD-93593yes4.55
E-MTAB-7249yes3.52

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXM1

miRNA regulators (miRDB)

73 targeting LAMA4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-5011-5P100.0083.465820
HSA-MIR-1277-5P100.0073.955056
HSA-MIR-190A-3P100.0080.355520
HSA-MIR-4682100.0068.891258
HSA-MIR-8485100.0077.574731
HSA-MIR-196A-5P100.0068.16684
HSA-MIR-196B-5P100.0068.16681
HSA-MIR-314899.9775.066478
HSA-LET-7C-3P99.9573.422862
HSA-MIR-9983-3P99.9471.483631
HSA-MIR-1236-3P99.9468.041695
HSA-MIR-539-5P99.9370.302855
HSA-MIR-314399.9371.963104
HSA-MIR-205-3P99.9269.923165
HSA-MIR-380-3P99.8970.181978
HSA-MIR-129-5P99.8870.263273
HSA-MIR-30A-3P99.8769.742928
HSA-MIR-30D-3P99.8769.922917
HSA-MIR-30E-3P99.8769.682942
HSA-MIR-6515-3P99.8268.191933
HSA-MIR-449599.8272.083080
HSA-MIR-313399.8170.923506
HSA-MIR-4760-5P99.8069.881619
HSA-MIR-7856-5P99.7569.992901
HSA-MIR-148A-3P99.7473.771700
HSA-MIR-148B-3P99.7473.751700
HSA-MIR-152-3P99.7473.751703
HSA-MIR-442899.7366.411733
HSA-MIR-379-3P99.6969.601524
HSA-MIR-411-3P99.6969.631524

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity Not yet evaluated (unscored). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 30)

  • Laminins with alpha1, alpha4, and alpha5 chains are compared to determine laminin isoform-specific promotion of adhesion and migration of human bone marrow progenitor cells. (PMID:12393739)
  • Data report the identification of a splice variant of the human laminin alpha4 subunit transcript containing 21 extra nucleotides. (PMID:12445830)
  • The G domain of laminin alpha4 chain is a specific, high affinity ligand for alphavbeta3 & alpha3beta1 integrin heterodimers. These integrins, with alpha6beta1, cooperatively mediate endothelial cell-alpha4 laminin interaction & blood vessel development. (PMID:12454288)
  • The alpha4 laminin subunit regulates vascular endothelium cell survival. (PMID:14980521)
  • laminin alpha4 LG4 module may play an important role in cell adhesion and/or vessel wall formation in the skin by interacting with syndecan-2 and/or -4. (PMID:15086543)
  • Downregulation of laminin alpha4 chain expression inhibits glioma invasion (PMID:15915502)
  • laminin isoform changes are associated with brain tumor invasion and angiogenesis [review] (PMID:16146715)
  • This suggests that G(1121-1139) peptide-containing proteins may perform their biological functions by interacting with alphavbeta3 integrin. (PMID:16824487)
  • alpha4 chain Lms have a de-adhesive function and could thus play a role in detachment, migration and invasion of renal carcinoma cells in vivo. (PMID:17533363)
  • 2 novel mutations (2828C>T [Pro943Leu] & 3217C>T [Arg1073X]) in the integrin-interacting domain of the LAMA4 gene reduce its integrin binding, & cause endothelial cell loss and heart failure. (PMID:17646580)
  • LAMA4 is specifically up-regulated on both mRNA and protein levels in hepatocelluar carcinoma; potential role in hepatocarcinogenesis and tumor progression. (PMID:18084776)
  • Concomitant changes take place in laminin- and collagen-binding receptors. Laminin-411 reduces adhesion to laminin-511 and fibronectin, suggesting that tumor cells could utilize laminin-411 in their invasive behavior (PMID:18496706)
  • LM alpha4 and beta2 have roles in in vitro migration and in vivo tumorigenicity of prostate cancer cells (PMID:19048114)
  • LAMC2, LAMA4, ITGB1, ITGB3, RSPA and MMP2) are overexpressed in angiotropic melanoma cells vs. non-angiotropic melanoma cells from the same tumor (PMID:19469865)
  • Data from experiment with peptide fragments suggest laminin alpha4 (and laminin alpha5) may be part of host defense response and may protect tissues from invading pathogens. (PMID:20433883)
  • These results indicate that mAbs to the laminin a4 globular domain are able to inhibit tumor cell adhesion and migration on laminins 411 and 421, and that alpha6beta1 integrin and MCAM bind a4-laminins at very close sites on the globular domain (PMID:24681327)
  • Laminins 411 and 421 differentially promote tumor cell migration via alpha6beta1 integrin and MCAM (CD146). (PMID:24951930)
  • Oxidative stress plays a vital role in controlling expression of LAMA4 through MAPK signaling pathways, which suggests a possible pathological mechanism of pre-eclampsia. (PMID:25676580)
  • LAMA4 expression is lowered in preeclamptic placentas and promotes trophoblast cell invasion, migration, and angiogenesis. hypoxia-reoxygenation decreases LAMA4 expression and decouple the relationship between LAMA4 expression and p38 and ERK activation. (PMID:26059342)
  • LAMA4-integrin signalling affects chondrocyte morphology and gene expression, contributing to cluster formation in osteoarthritic chondrocytes. (PMID:26295200)
  • highlight MCAM and LAMA4 as prime candidates for RCC prognosis and therapeutic targeting (PMID:26921326)
  • Disruption of LAMA4, LAMA5, and LAMB2 or the laminin-receptor interaction occurs in neuromuscular diseases including Pierson syndrome and Lambert-Eaton myasthenic syndrome (LEMS). (Review) (PMID:27614294)
  • High LAMA4 expression is associated with gastric cancer. (PMID:30015861)
  • In diverse models, laminins alpha-4 (LAMA4) and alpha-5 (LAMA5) were differentially regulated. Immunity was associated with decreased LAMA4:LAMA5 ratio, while tolerance was associated with an increased ratio. LAMA4inhibited CD4+ T-cell proliferation and Th1, Th2, and Th17 polarization but favored Treg induction. LAMA4 and LAMA5 are coinhibitory and costimulatory ligands for human and mouse CD4 T cells, respectively. (PMID:31343575)
  • High LAMA4 expression is associated with inflammation in asthma. (PMID:31553662)
  • Downregulation of the LAMA4 gene inhibits the proliferation, migration, and invasion of extravillous trophoblasts to suppress the expression of vascular factors, leading to the occurrence or development of preeclampsia. (PMID:31842202)
  • Laminin Subunit Alpha-4 and Osteopontin Are Glioblastoma-Selective Secreted Proteins That Are Increased in the Cerebrospinal Fluid of Glioblastoma Patients. (PMID:32628487)
  • Laminin-alpha4 Is Upregulated in Both Human and Murine Models of Obesity. (PMID:34394003)
  • Effect of LAMA4 on Prognosis and Its Correlation with Immune Infiltration in Gastric Cancer. (PMID:34414238)
  • [Research Progress on the Role of Laminin Subunit Alpha 4 in Diseases]. (PMID:36861161)

Cross-species orthologs

2 orthologs

OrganismSymbolGene ID
mus_musculusLama4ENSMUSG00000019846
rattus_norvegicusLama4ENSRNOG00000000599

Paralogs (27): USH2A (ENSG00000042781), LAMC3 (ENSG00000050555), LAMA3 (ENSG00000053747), LAMC2 (ENSG00000058085), NTN1 (ENSG00000065320), NTN4 (ENSG00000074527), ATRN (ENSG00000088812), LAMB4 (ENSG00000091128), LAMB1 (ENSG00000091136), LAMA1 (ENSG00000101680), MEGF8 (ENSG00000105429), MEGF9 (ENSG00000106780), ATRNL1 (ENSG00000107518), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMA2 (ENSG00000196569), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)

Protein

Protein identifiers

Laminin subunit alpha-4Q16363 (reviewed: Q16363)

Alternative names: Laminin-14 subunit alpha, Laminin-8 subunit alpha, Laminin-9 subunit alpha

All UniProt accessions (12): A0A0A0MTC7, A0A494C139, A0A494C1K8, E5RFD7, E5RFQ2, E5RHF3, E5RK79, Q16363, H0Y351, H0YAP9, H0YAQ5, Q6LET9

UniProt curated annotations — full annotation on UniProt →

Function. Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components.

Subunit / interactions. Laminin is a complex glycoprotein, consisting of three different polypeptide chains (alpha, beta, gamma), which are bound to each other by disulfide bonds into a cross-shaped molecule comprising one long and three short arms with globules at each end. Alpha-4 is a subunit of laminin-8 (laminin-411), laminin-9 (laminin-421) and laminin-14 (laminin-423).

Subcellular location. Secreted. Extracellular space. Extracellular matrix. Basement membrane.

Tissue specificity. Detected in placenta (at protein level). Detected in fibroblasts and urine (at protein level). In adult, strong expression in heart, lung, ovary small and large intestines, placenta, liver; weak or no expression in skeletal muscle, kidney, pancreas, testis, prostate, brain. High expression in fetal lung and kidney. Expression in fetal and newborn tissues is observed in certain mesenchymal cells in tissues such as smooth muscle and dermis.

Disease relevance. Cardiomyopathy, dilated, 1JJ (CMD1JJ) [MIM:615235] A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The alpha-helical domains I and II are thought to interact with other laminin chains to form a coiled coil structure. Domain G is globular.

Isoforms (3)

UniProt IDNamesCanonical?
Q16363-11yes
Q16363-22
Q16363-33

RefSeq proteins (5): NP_001098676, NP_001098677, NP_001098678, NP_001098679, NP_002281 (=MANE)

Domains & families (InterPro)

IDNameType
IPR000742EGFDomain
IPR001791Laminin_GDomain
IPR002049LE_domDomain
IPR009254Laminin_aIDomain
IPR010307Laminin_dom_IIDomain
IPR013320ConA-like_dom_sfHomologous_superfamily
IPR050372Neurexin-related_CASPFamily
IPR056863LMN_ATRN_NET-like_EGFDomain

Pfam: PF00053, PF02210, PF06008, PF06009, PF24973

UniProt features (74 total): glycosylation site 20, disulfide bond 19, sequence variant 10, domain 9, coiled-coil region 5, splice variant 3, sequence conflict 3, region of interest 2, signal peptide 1, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q16363-F173.750.18

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Disulfide bonds (19): 82–91, 84–98, 101–110, 113–129, 132–146, 134–155, 157–166, 169–184, 187–202, 189–209, 212–221, 224–238, 273, 276, 1005–1035, 1201–1227, 1370–1402, 1617–1640, 1792–1820

Glycosylation sites (20): 39, 104, 215, 315, 465, 531, 557, 578, 581, 638, 646, 742, 758, 761, 787, 810, 1093, 1288, 1366, 1418

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

IDPathway
R-HSA-3000157Laminin interactions
R-HSA-3000171Non-integrin membrane-ECM interactions
R-HSA-3000178ECM proteoglycans
R-HSA-8874081MET activates PTK2 signaling
R-HSA-9638630Attachment of bacteria to epithelial cells
R-HSA-9913351Formation of the dystrophin-glycoprotein complex (DGC)
R-HSA-9925563Developmental Lineage of Pancreatic Ductal Cells
R-HSA-1474244Extracellular matrix organization
R-HSA-162582Signal Transduction
R-HSA-6806834Signaling by MET
R-HSA-8875878MET promotes cell motility
R-HSA-9006934Signaling by Receptor Tyrosine Kinases

MSigDB gene sets: 687 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_NK_CELL_VS_CD8A_DC_UP, WAMUNYOKOLI_OVARIAN_CANCER_LMP_DN, LI_CISPLATIN_RESISTANCE_DN, AP1_01, JI_RESPONSE_TO_FSH_UP, TSENG_IRS1_TARGETS_UP, XU_GH1_AUTOCRINE_TARGETS_UP, GOBP_FORMATION_OF_PRIMARY_GERM_LAYER, JAEGER_METASTASIS_DN, LI_PROSTATE_CANCER_EPIGENETIC, MODULE_493, SCHLESINGER_METHYLATED_DE_NOVO_IN_CANCER, TOMLINS_PROSTATE_CANCER_DN

GO Biological Process (5): cell adhesion (GO:0007155), regulation of cell adhesion (GO:0030155), regulation of cell migration (GO:0030334), regulation of embryonic development (GO:0045995), negative regulation of cold-induced thermogenesis (GO:0120163)

GO Molecular Function (3): signaling receptor binding (GO:0005102), extracellular matrix structural constituent (GO:0005201), protein binding (GO:0005515)

GO Cellular Component (5): extracellular region (GO:0005576), basement membrane (GO:0005604), extracellular matrix (GO:0031012), extracellular exosome (GO:0070062), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-8 pathways:

CategoryPathways
Extracellular matrix organization3
MET promotes cell motility1
Biofilm formation1
Non-integrin membrane-ECM interactions1
Developmental Cell Lineages of the Exocrine Pancreas1
Signaling by Receptor Tyrosine Kinases1
Signaling by MET1
Signal Transduction1

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
extracellular matrix2
cellular anatomical structure2
cellular process1
cell adhesion1
regulation of cellular process1
cell migration1
regulation of cell motility1
embryo development1
regulation of multicellular organismal development1
negative regulation of multicellular organismal process1
cold-induced thermogenesis1
regulation of cold-induced thermogenesis1
protein binding1
structural molecule activity1
binding1
external encapsulating structure1
extracellular vesicle1

Protein interactions and networks

STRING

2594 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
LAMA4LAMB3Q13751983
LAMA4LAMC2Q13753982
LAMA4LAMB1P07942920
LAMA4COL17A1Q9UMD9853
LAMA4LAMC1P11047818
LAMA4ITGB1P05556804
LAMA4FN1P02751793
LAMA4ITGA6P23229783
LAMA4ITGB4P16144767
LAMA4MCAMP43121732
LAMA4COL4A2P08572730
LAMA4ME1P48163728
LAMA4COL4A1P02462725
LAMA4ITGA7Q13683682
LAMA4IGBP1P78318656

IntAct

41 interactions, top by confidence:

ABTypeScore
MCAMCNTN1psi-mi:“MI:0914”(association)0.750
FBXO2TMEM131Lpsi-mi:“MI:0914”(association)0.530
HADHAAGRNpsi-mi:“MI:0914”(association)0.530
LGALS1PODXLpsi-mi:“MI:0914”(association)0.530
LGALS3PODXLpsi-mi:“MI:0914”(association)0.530
TP53LAMA4psi-mi:“MI:2364”(proximity)0.520
DAG1LAMA4psi-mi:“MI:0407”(direct interaction)0.440
LAMA4RTN4psi-mi:“MI:0915”(physical association)0.370
ATF7IPLAMA4psi-mi:“MI:0915”(physical association)0.370
TNIP1COCHpsi-mi:“MI:0914”(association)0.350
TNIP2TMEM178Bpsi-mi:“MI:0914”(association)0.350
CCN1psi-mi:“MI:0914”(association)0.350
LGALS8SLC22A23psi-mi:“MI:0914”(association)0.350
CCL3KRBA1psi-mi:“MI:0914”(association)0.350
NID2AGRNpsi-mi:“MI:0914”(association)0.350
MANEAAGRNpsi-mi:“MI:0914”(association)0.350
LGALS9PODXLpsi-mi:“MI:0914”(association)0.350
BCAMTNPO2psi-mi:“MI:0914”(association)0.350
PILRANID2psi-mi:“MI:0914”(association)0.350
CDH5ESYT2psi-mi:“MI:2364”(proximity)0.270
CDH5MYO1Cpsi-mi:“MI:2364”(proximity)0.270
LAMA4psi-mi:“MI:0915”(physical association)0.000
APCLAMA4psi-mi:“MI:0915”(physical association)0.000
FHL1LAMA4psi-mi:“MI:0915”(physical association)0.000
LAMA4EEF1A1psi-mi:“MI:0915”(physical association)0.000
BRD7LAMA4psi-mi:“MI:0915”(physical association)0.000
LAMA4MED31psi-mi:“MI:0915”(physical association)0.000

BioGRID (53): LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Co-localization), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS), LAMA4 (Affinity Capture-MS)

ESM2 similar proteins: A2VE53, A5PJQ2, A5PMY6, A6H6E2, A6QP79, A8WGB1, F1QC17, O35550, O35551, O70340, O75071, O94901, P21757, P21758, P30204, P47970, P47971, P47972, P97738, P97927, Q05585, Q07065, Q15276, Q15818, Q16363, Q2LK54, Q3MI99, Q4V885, Q5EAJ6, Q5KU26, Q5RFW0, Q5RI56, Q62443, Q6AZY7, Q6P132, Q6P402, Q6ZMJ2, Q70UQ0, Q8BGQ6, Q8BMK4

Diamond homologs: A0JP86, A2ASQ1, G5ECE3, O00468, O00634, O09118, O15230, O75445, O75882, O95631, P02468, P11047, P15215, P19137, P24043, P25304, P25391, P31696, P34710, P97927, Q00174, Q01635, Q13751, Q13753, Q16363, Q16787, Q18823, Q19981, Q1LVF0, Q24567, Q24568, Q27262, Q2HXW4, Q2QI47, Q5RB89, Q5VV63, Q60675, Q61001, Q61087, Q61092

SIGNOR signaling

2 interactions.

AEffectBMechanism
LAMA4“form complex”Laminin-9binding
LAMA4“form complex”Laminin-8binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 45 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

GO biological processes:

GO termPartnersFoldFDR
positive regulation of cell migration710.3×3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

4541 variants total. Per-class counts are floors (≥ shown; pagination cap):

ClassificationCount (floor)
Pathogenic126
Likely pathogenic137
Uncertain significance1857
Likely benign1795
Benign278

Top pathogenic / likely-pathogenic (30)

Variant IDHGVSClassification
1047960NM_198129.4(LAMA3):c.6319-1G>TPathogenic
1047961NM_198129.4(LAMA3):c.6348_6352delinsCTGGCAAGA (p.Glu2117fs)Pathogenic
1047962NM_198129.4(LAMA3):c.9856G>T (p.Ala3286Ser)Pathogenic
1068548NM_198129.4(LAMA3):c.6469G>T (p.Glu2157Ter)Pathogenic
1069997NM_198129.4(LAMA3):c.5622_5635del (p.Leu1874fs)Pathogenic
1070832NM_198129.4(LAMA3):c.8145T>A (p.Tyr2715Ter)Pathogenic
1070853NC_000018.9:g.(?21478692)(21479039_?)delPathogenic
1071930NM_198129.4(LAMA3):c.6100A>T (p.Lys2034Ter)Pathogenic
1071950NM_198129.4(LAMA3):c.9887G>A (p.Trp3296Ter)Pathogenic
1072339NM_198129.4(LAMA3):c.5394T>A (p.Cys1798Ter)Pathogenic
1072501NM_198129.4(LAMA3):c.6847_6854del (p.Ala2283fs)Pathogenic
1074803NC_000018.9:g.(?21484507)(21485598_?)delPathogenic
1075696NM_198129.4(LAMA3):c.5568dup (p.Leu1857fs)Pathogenic
1252054NM_198129.4(LAMA3):c.8302C>T (p.Arg2768Ter)Pathogenic
1321416NM_198129.4(LAMA3):c.7204C>T (p.Arg2402Ter)Pathogenic
1323177NM_198129.4(LAMA3):c.5000_5003del (p.Gly1667fs)Pathogenic
1323178NM_198129.4(LAMA3):c.8087_8090delinsTGC (p.Asn2696fs)Pathogenic
1350464NM_198129.4(LAMA3):c.9617T>G (p.Leu3206Ter)Pathogenic
1361060NM_198129.4(LAMA3):c.9893C>A (p.Ser3298Ter)Pathogenic
1369957NM_198129.4(LAMA3):c.8755A>T (p.Lys2919Ter)Pathogenic
1371125NM_198129.4(LAMA3):c.7738del (p.Thr2580fs)Pathogenic
1379401NM_198129.4(LAMA3):c.5137G>T (p.Glu1713Ter)Pathogenic
1400822NM_198129.4(LAMA3):c.9236dup (p.Arg3081fs)Pathogenic
1404615NM_198129.4(LAMA3):c.5728C>T (p.Gln1910Ter)Pathogenic
1412135NM_198129.4(LAMA3):c.5992G>T (p.Glu1998Ter)Pathogenic
1412583NM_198129.4(LAMA3):c.6778G>T (p.Glu2260Ter)Pathogenic
1417958NM_198129.4(LAMA3):c.8284del (p.Glu2762fs)Pathogenic
1422229NM_198129.4(LAMA3):c.8911C>T (p.Gln2971Ter)Pathogenic
1422425NM_198129.4(LAMA3):c.6199C>T (p.Gln2067Ter)Pathogenic
1441309NM_198129.4(LAMA3):c.5119C>T (p.Gln1707Ter)Pathogenic

SpliceAI

6475 predictions. Top by Δscore:

VariantEffectΔscore
6:112109581:TT:Tacceptor_gain1.0000
6:112109582:TC:Tacceptor_loss1.0000
6:112109583:C:Aacceptor_loss1.0000
6:112109593:C:CTacceptor_gain1.0000
6:112109594:A:Tacceptor_gain1.0000
6:112114071:CTTA:Cdonor_loss1.0000
6:112114072:TTAC:Tdonor_loss1.0000
6:112114073:TACC:Tdonor_loss1.0000
6:112114074:ACC:Adonor_loss1.0000
6:112114075:C:Adonor_loss1.0000
6:112114193:TAA:Tacceptor_gain1.0000
6:112114196:C:CCacceptor_gain1.0000
6:112114201:A:ACacceptor_gain1.0000
6:112114659:TCA:Tdonor_loss1.0000
6:112114660:CACCT:Cdonor_loss1.0000
6:112114661:A:Cdonor_loss1.0000
6:112114662:C:CAdonor_loss1.0000
6:112114753:TGAC:Tacceptor_gain1.0000
6:112114757:C:CCacceptor_gain1.0000
6:112114758:T:Aacceptor_loss1.0000
6:112115895:C:CAdonor_gain1.0000
6:112117751:ATCCT:Adonor_gain1.0000
6:112119152:TTAC:Tdonor_loss1.0000
6:112119154:A:AGdonor_loss1.0000
6:112119308:TCAC:Tacceptor_gain1.0000
6:112119309:CACC:Cacceptor_gain1.0000
6:112119310:ACCTG:Aacceptor_loss1.0000
6:112119311:CCTG:Cacceptor_loss1.0000
6:112119313:T:Aacceptor_loss1.0000
6:112120281:A:ACdonor_gain1.0000

AlphaMissense

12090 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
6:112109535:A:GC1792R0.999
6:112114676:C:AW1731C0.999
6:112114676:C:GW1731C0.999
6:112201641:C:GC157S0.999
6:112201642:A:TC157S0.999
6:112109450:C:GC1820S0.998
6:112109451:A:GC1820R0.998
6:112109451:A:TC1820S0.998
6:112109534:C:GC1792S0.998
6:112109535:A:TC1792S0.998
6:112114087:C:TG1772E0.998
6:112114195:A:TV1736D0.998
6:112114678:A:GW1731R0.998
6:112114678:A:TW1731R0.998
6:112115945:C:GR1677P0.998
6:112122053:C:GR1479P0.998
6:112139811:G:CS1017R0.998
6:112139811:G:TS1017R0.998
6:112139813:T:GS1017R0.998
6:112191749:C:GC202S0.998
6:112191750:A:TC202S0.998
6:112191803:C:GC184S0.998
6:112191804:A:TC184S0.998
6:112191848:C:GC169S0.998
6:112191849:A:TC169S0.998
6:112201613:A:CC166W0.998
6:112201614:C:AC166F0.998
6:112201614:C:GC166S0.998
6:112201614:C:TC166Y0.998
6:112201615:A:TC166S0.998

dbSNP variants (sampled 300 via entrez): RS1000047452 (6:112222957 A>G), RS1000064484 (6:112129778 C>T), RS1000099053 (6:112174602 C>G), RS1000108408 (6:112216935 C>A), RS1000136128 (6:112156829 A>G), RS1000176610 (6:112233815 A>G,T), RS1000183895 (6:112206738 A>G), RS1000208755 (6:112250017 G>A,T), RS1000223880 (6:112147477 T>C), RS1000242629 (6:112109882 T>C), RS1000250929 (6:112157087 C>T), RS1000309173 (6:112243204 G>C,T), RS1000361076 (6:112149964 A>G), RS1000383232 (6:112243415 A>G), RS1000456661 (6:112137047 A>T)

Disease associations

OMIM: gene MIM:600133 | disease phenotypes: MIM:615235, MIM:226650, MIM:226700, MIM:245660, MIM:619783, MIM:619784, MIM:192600, MIM:600996, MIM:604772, MIM:194200, MIM:302045, MIM:607346, MIM:616399, MIM:608583, MIM:178500, MIM:601144

GenCC curated gene-disease

DiseaseClassificationInheritance
laryngo-onycho-cutaneous syndromeDefinitiveAutosomal recessive
junctional epidermolysis bullosaDefinitiveAutosomal recessive
dilated cardiomyopathy 1JJStrongAutosomal dominant
junctional epidermolysis bullosa, non-Herlitz typeStrongAutosomal recessive
junctional epidermolysis bullosa Herlitz typeStrongAutosomal recessive
epidermolysis bullosa, junctional 2A, intermediateStrongAutosomal recessive
epidermolysis bullosa, junctional 2B, severeStrongAutosomal recessive
generalized junctional epidermolysis bullosa non-Herlitz typeSupportiveAutosomal recessive
familial isolated dilated cardiomyopathySupportiveAutosomal dominant

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

DiseaseClassificationInheritance
dilated cardiomyopathy 1JJLimitedAD

Mondo (25): dilated cardiomyopathy 1JJ (MONDO:0014095), junctional epidermolysis bullosa, non-Herlitz type (MONDO:0009180), junctional epidermolysis bullosa (MONDO:0017612), junctional epidermolysis bullosa Herlitz type (MONDO:0009182), laryngo-onycho-cutaneous syndrome (MONDO:0009513), epidermolysis bullosa, junctional 2A, intermediate (MONDO:0030746), epidermolysis bullosa, junctional 2B, severe (MONDO:0030747), cardiomyopathy (MONDO:0004994), dilated cardiomyopathy (MONDO:0005021), arrhythmogenic right ventricular cardiomyopathy (MONDO:0016587), familial hypertrophic cardiomyopathy (MONDO:0024573), catecholaminergic polymorphic ventricular tachycardia 1 (MONDO:0011484), Wolff-Parkinson-White syndrome (MONDO:0008685), dilated cardiomyopathy 3B (MONDO:0010542), hypertrophic cardiomyopathy (MONDO:0005045)

Orphanet (21): Familial isolated dilated cardiomyopathy (Orphanet:154), Localized junctional epidermolysis bullosa (Orphanet:251393), Intermediate generalized junctional epidermolysis bullosa (Orphanet:79402), Junctional epidermolysis bullosa inversa (Orphanet:79405), OBSOLETE: Junctional epidermolysis bullosa, non-Herlitz type (Orphanet:89840), Junctional epidermolysis bullosa (Orphanet:305), Laryngo-onycho-cutaneous syndrome (Orphanet:2407), Severe generalized junctional epidermolysis bullosa (Orphanet:79404), Rare cardiomyopathy (Orphanet:167848), Dilated cardiomyopathy (Orphanet:217604), Inherited arrhythmogenic cardiomyopathy (Orphanet:247), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Catecholaminergic polymorphic ventricular tachycardia (Orphanet:3286), Rare hypertrophic cardiomyopathy (Orphanet:217569), Brugada syndrome (Orphanet:130)

HPO phenotypes

18 total (20 of 18 shown, HPO-id order):

HPOTerm
HP:0000006Autosomal dominant inheritance
HP:0000407Sensorineural hearing impairment
HP:0000969Edema
HP:0001635Congestive heart failure
HP:0001644Dilated cardiomyopathy
HP:0001727Thromboembolic stroke
HP:0002875Exertional dyspnea
HP:0003198Myopathy
HP:0003457EMG abnormality
HP:0003584Late onset
HP:0003596Middle age onset
HP:0011462Young adult onset
HP:0011675Arrhythmia
HP:0012378Fatigue
HP:0012664Reduced left ventricular ejection fraction
HP:0012764Orthopnea
HP:0025169Left ventricular systolic dysfunction
HP:0100578Lipoatrophy
HP:0001716Wolff-Parkinson-White syndrome
HP:0001639Hypertrophic cardiomyopathy

GWAS associations

16 associations (top):

StudyTraitp-value
GCST001664_14Amyotrophic lateral sclerosis7.000000e-07
GCST002550_24Allergic rhinitis4.000000e-07
GCST004611_138High light scatter reticulocyte count6.000000e-09
GCST004612_87High light scatter reticulocyte percentage of red cells4.000000e-09
GCST008103_72Bipolar disorder8.000000e-07
GCST008570_7Composite immunoglobulin trait (IgA x IgG/IgM)4.000000e-07
GCST009391_29Metabolite levels3.000000e-06
GCST90020024_592A body shape index2.000000e-08
GCST90020024_593A body shape index9.000000e-12
GCST90020024_594A body shape index3.000000e-08
GCST90020025_1082Waist-to-hip ratio adjusted for BMI1.000000e-10
GCST90020025_1083Waist-to-hip ratio adjusted for BMI3.000000e-08
GCST90020027_1107Waist-hip index1.000000e-10
GCST90020027_1108Waist-hip index4.000000e-08
GCST90020029_1418Waist circumference adjusted for body mass index3.000000e-09
GCST90020029_1419Waist circumference adjusted for body mass index2.000000e-12

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0007986reticulocyte count
EFO:0010350cholesteryl ester 22:6 measurement
EFO:0007789BMI-adjusted waist circumference
EFO:0007788BMI-adjusted waist-hip ratio

MeSH disease descriptors (15)

DescriptorNameTree numbers
D019571Arrhythmogenic Right Ventricular DysplasiaC14.240.400.145; C14.280.238.028; C14.280.400.145; C16.131.240.400.145
D053840Brugada SyndromeC14.280.067.322; C14.280.123.250; C16.320.100
D009202CardiomyopathiesC14.280.238
D002311Cardiomyopathy, DilatedC14.280.195.160; C14.280.238.070; C16.320.488.750
D002312Cardiomyopathy, HypertrophicC14.280.238.100; C14.280.484.048.750.070.160
D024741Cardiomyopathy, Hypertrophic, FamilialC14.280.238.100.500; C14.280.484.048.750.070.160.500; C16.320.160
D016109Epidermolysis Bullosa, JunctionalC16.131.831.493.170; C16.320.850.275.170; C17.800.804.493.170; C17.800.827.275.170; C17.800.865.410.170
D008133Long QT SyndromeC14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547
D017180Tachycardia, VentricularC14.280.067.845.940; C14.280.123.875.940; C23.550.073.845.940
D014927Wolff-Parkinson-White SyndromeC14.280.067.780.977; C14.280.123.750.977; C16.131.240.400.980
C563409Arrhythmogenic Right Ventricular Dysplasia, Familial, 2 (supp.)
C580047Dmd-Associated Dilated Cardiomyopathy (supp.)
C537032Laryngo onycho cutaneous syndrome (supp.)
C537198Spinocerebellar ataxia 19 (supp.)
C542540Spinocerebellar ataxia 22 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2364187 (PROTEIN COMPLEX GROUP)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

80 total (human), top 30 by PubMed support.

ChemicalActions (top 5)PubMed papers
bisphenol Aaffects cotreatment, increases methylation, decreases expression, increases expression4
trichostatin Aincreases expression, affects cotreatment3
sodium arseniteaffects methylation, decreases expression, increases abundance, increases expression3
Estradioldecreases expression, affects expression, affects cotreatment3
methylmercuric chloridedecreases expression, increases expression2
cobaltous chloridedecreases secretion, decreases expression2
belinostatincreases expression, affects cotreatment2
Troglitazoneincreases expression2
Vorinostataffects cotreatment, increases expression2
Panobinostataffects cotreatment, increases expression2
Benzo(a)pyreneincreases expression, increases methylation2
Doxorubicinincreases expression2
Endosulfandecreases expression2
Progesteroneaffects cotreatment, decreases expression, increases expression2
Tobacco Smoke Pollutionincreases expression, affects expression2
Valproic Acidaffects expression, increases expression2
Aflatoxin B1increases methylation, increases expression2
bisphenol Fincreases expression1
sotorasibaffects cotreatment, decreases expression1
geldanamycinincreases expression1
2,4,6-tribromophenolincreases expression1
testosterone enanthateaffects expression1
propionaldehydedecreases expression1
pirinixic acidincreases activity, increases expression, affects binding1
methylselenic acidincreases expression1
decabromobiphenyl etherincreases expression1
ethyl-p-hydroxybenzoateincreases expression1
mono-(2-ethylhexyl)phthalateincreases expression1
tetrabromobisphenol Aincreases expression1
N-acetyl-4-benzoquinoneimineaffects response to substance1

Cellosaurus cell lines

2 cell lines: 2 transformed cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_D9I8Ubigene HEK293 LAMA4 KOTransformed cell lineFemale
CVCL_RY71HEK293 rLN8Transformed cell lineFemale

Clinical trials (associated diseases)

300 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT00348530PHASE4UNKNOWNCarvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891PHASE4COMPLETEDOntario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856PHASE4COMPLETEDCMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338PHASE4COMPLETEDImpact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775PHASE4UNKNOWNThe Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203PHASE4COMPLETEDClinical Evaluation on Advanced Resynchronization
NCT00701220PHASE4COMPLETEDStatin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761PHASE4COMPLETEDIntensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390PHASE4TERMINATEDPrevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473PHASE4COMPLETEDExercise Training in Chagas Cardiomyopathy
NCT01261065PHASE4COMPLETEDMechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188PHASE4COMPLETEDRanolazine in Ischemic Cardiomyopathy
NCT01868841PHASE4COMPLETED123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846PHASE4UNKNOWNEffects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823PHASE4UNKNOWNProspective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852PHASE4COMPLETEDCan Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432PHASE4RECRUITINGThe PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128PHASE4RECRUITINGClinical Study of Endocardial Myocardial Biopsy
NCT06964464PHASE4RECRUITINGComparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00587223PHASE3TERMINATEDSafety and Efficacy of Apligraf in Nonhealing Wounds of Subjects With Junctional or Dystrophic Epidermolysis Bullosa (EB)
NCT06917690PHASE3RECRUITINGA Study to Learn About the Safety and Efficacy of the Drug Oleogel-S10 in Japanese Patients With Epidermolysis Bullosa
NCT00170183PHASE3COMPLETEDBrain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387PHASE3COMPLETEDA Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295PHASE3COMPLETEDBiventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery
NCT00483197PHASE3UNKNOWNVentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial
NCT00490321PHASE3UNKNOWNVentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy
NCT00626028PHASE3COMPLETEDComparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing
NCT01013714PHASE3UNKNOWNCardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias
NCT01217827PHASE3COMPLETEDImplantable Cardioverter-Defibrillator Use in the VA System
NCT01648634PHASE3COMPLETEDNebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02924285PHASE3COMPLETEDCatheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease
NCT03860935PHASE3COMPLETEDEfficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04166331PHASE3COMPLETEDAdjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion
NCT05175066PHASE3COMPLETEDBisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity
NCT05237323PHASE3COMPLETEDMicophenolate Mofetil Versus Azathioprine in Myocarditis
NCT06158698PHASE3RECRUITINGCMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine
NCT06563895PHASE3RECRUITINGAcoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06846086PHASE3RECRUITINGCardioprotective Effects of Melatonin in Patients With Cardiomyopathy
NCT07116473PHASE3NOT_YET_RECRUITINGTo Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT03578029PHASE2TERMINATEDEvaluation of the Safety and Efficacy Study of RGN-137 Topical Gel for Junctional and Dystrophic Epidermolysis Bullosa