LAMA2

Summary

LAMA2 (laminin subunit alpha 2, HGNC:6482) is a protein-coding gene on chromosome 6q22.33, encoding Laminin subunit alpha-2 (P24043). 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.

Laminin, an extracellular protein, is a major component of the basement membrane. It is thought to mediate the attachment, migration, and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components. It is composed of three subunits, alpha, beta, and gamma, which are bound to each other by disulfide bonds into a cross-shaped molecule. This gene encodes the alpha 2 chain, which constitutes one of the subunits of laminin 2 (merosin) and laminin 4 (s-merosin). Mutations in this gene have been identified as the cause of congenital merosin-deficient muscular dystrophy. Two transcript variants encoding different proteins have been found for this gene.

Source: NCBI Gene 3908 — RefSeq curated summary.

At a glance

• Gene–disease (curated): LAMA2-related muscular dystrophy (Definitive, ClinGen) — +2 more curated relationships
• GWAS associations: 27
• Clinical variants (ClinVar): 5,470 total — 487 pathogenic, 434 likely-pathogenic
• Phenotypes (HPO): 86
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_000426

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6482
Approved symbol	LAMA2
Name	laminin subunit alpha 2
Location	6q22.33
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000196569
Ensembl biotype	protein_coding
OMIM	156225
Entrez	3908

Gene structure

Transcript identifiers

Ensembl transcripts: 20 — 8 retained_intron, 6 protein_coding, 5 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000421865, ENST00000466230, ENST00000494137, ENST00000498257, ENST00000617695, ENST00000618192, ENST00000684985, ENST00000685128, ENST00000686577, ENST00000686599, ENST00000687590, ENST00000688150, ENST00000688198, ENST00000688799, ENST00000689044, ENST00000690858, ENST00000690881, ENST00000692206, ENST00000693425, ENST00000693461

RefSeq mRNA: 2 — MANE Select: NM_000426 NM_000426, NM_001079823

CCDS: CCDS5138, CCDS93999

Canonical transcript exons

ENST00000421865 — 65 exons

Exon	Start	End
ENSE00001148209	129514373	129514595
ENSE00001148217	129512363	129512493
ENSE00001148226	129507489	129507642
ENSE00001148235	129505200	129505355
ENSE00001148242	129503091	129503280
ENSE00001148249	129502659	129502771
ENSE00001148270	129486474	129486622
ENSE00001148275	129481263	129481439
ENSE00001148280	129478693	129478813
ENSE00001148287	129473214	129473352
ENSE00001148294	129465145	129465289
ENSE00001148302	129464290	129464452
ENSE00001148308	129460200	129460324
ENSE00001148315	129456335	129456494
ENSE00001148321	129454155	129454288
ENSE00001148325	129452988	129453131
ENSE00001148329	129445667	129445821
ENSE00001148334	129440816	129440998
ENSE00001148342	129438646	129438762
ENSE00001148346	129427752	129427854
ENSE00001148352	129403821	129403959
ENSE00001148360	129402324	129402487
ENSE00001148370	129401224	129401340
ENSE00001148378	129393045	129393255
ENSE00001148388	129391491	129391653
ENSE00001148397	129383122	129383233
ENSE00001148404	129369892	129369990
ENSE00001148411	129366219	129366361
ENSE00001148420	129353164	129353357
ENSE00001148430	129349298	129349384
ENSE00001148439	129342343	129342467
ENSE00001148446	129328278	129328412
ENSE00001148451	129320538	129320655
ENSE00001148457	129316038	129316171
ENSE00001148463	129315762	129315950
ENSE00001148467	129315476	129315655
ENSE00001148474	129314655	129314798
ENSE00001148484	129312861	129313097
ENSE00001148493	129300736	129300872
ENSE00001148505	129297685	129297865
ENSE00001148515	129291614	129291720
ENSE00001148522	129287847	129288058
ENSE00001148529	129280061	129280147
ENSE00001148537	129270624	129270751
ENSE00001148545	129267106	129267219
ENSE00001148555	129260711	129260822
ENSE00001148562	129252084	129252295
ENSE00001148568	129250112	129250213
ENSE00001148575	129192680	129192853
ENSE00001148586	129190205	129190345
ENSE00001148591	129177706	129177866
ENSE00001148599	129165576	129165675
ENSE00001148605	129154505	129154683
ENSE00001148611	129148979	129149096
ENSE00001148616	129146959	129147048
ENSE00001148622	129143901	129144080
ENSE00001148631	129098173	129098415
ENSE00001148640	129059784	129059896
ENSE00001148647	129049918	129050088
ENSE00001879346	128883138	128883357
ENSE00001943196	129516190	129516566
ENSE00002502484	129443063	129443068
ENSE00002503972	129475390	129475401
ENSE00003535379	129492315	129492483
ENSE00003611128	129491901	129492077

Expression profiles

Bgee: expression breadth ubiquitous, 272 present calls, max score 97.73.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.0406 / max 1093.8016, expressed in 1197 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
69723	11.2673	723
69724	8.3395	674
69737	1.4308	492
69738	0.8197	86
69722	0.6771	361
69725	0.3193	153
69721	0.1870	118

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of stomach	UBERON:0001199	97.73	gold quality
calcaneal tendon	UBERON:0003701	97.09	gold quality
right ovary	UBERON:0002118	96.55	gold quality
left ovary	UBERON:0002119	96.23	gold quality
right lung	UBERON:0002167	96.10	gold quality
cardiac atrium	UBERON:0002081	95.78	gold quality
right atrium auricular region	UBERON:0006631	95.76	gold quality
left ventricle myocardium	UBERON:0006566	95.60	gold quality
myocardium	UBERON:0002349	95.50	gold quality
heart left ventricle	UBERON:0002084	95.49	gold quality
cardiac ventricle	UBERON:0002082	95.47	gold quality
heart	UBERON:0000948	95.36	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.31	gold quality
pericardium	UBERON:0002407	95.05	gold quality
placenta	UBERON:0001987	94.82	gold quality
left uterine tube	UBERON:0001303	94.71	gold quality
heart right ventricle	UBERON:0002080	94.56	gold quality
tibial nerve	UBERON:0001323	94.44	gold quality
tendon	UBERON:0000043	94.36	gold quality
left coronary artery	UBERON:0001626	93.78	gold quality
apex of heart	UBERON:0002098	93.53	gold quality
coronary artery	UBERON:0001621	93.38	gold quality
olfactory bulb	UBERON:0002264	93.32	gold quality
gluteal muscle	UBERON:0002000	93.15	gold quality
ovary	UBERON:0000992	93.00	gold quality
dorsal root ganglion	UBERON:0000044	92.83	gold quality
sural nerve	UBERON:0015488	92.73	gold quality
peritoneum	UBERON:0002358	92.55	gold quality
omental fat pad	UBERON:0010414	92.55	gold quality
lower lobe of lung	UBERON:0008949	92.34	gold quality

Single-cell (SCXA)

Detected in 10 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-ANND-2	yes	12199.65
E-GEOD-180759	yes	6133.84
E-HCAD-35	yes	5817.94
E-HCAD-25	yes	3327.87
E-MTAB-6701	yes	53.51
E-GEOD-134144	yes	35.50
E-MTAB-9543	yes	14.53
E-GEOD-84465	yes	6.37
E-GEOD-130148	yes	4.11
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): FOXM1

miRNA regulators (miRDB)

21 targeting LAMA2, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-5682	99.89	72.56	1005
HSA-MIR-3133	99.81	70.92	3506
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-10393-5P	99.65	68.01	1368
HSA-MIR-183-3P	99.41	69.41	1598
HSA-MIR-889-3P	99.40	69.76	2103
HSA-MIR-4427	99.34	70.33	1854
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-4680-3P	98.64	68.60	2093
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-217-3P	95.67	68.42	1000

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• case series and review of laminin alpha2(merosin) deficiency phenotypes and abnormalities (PMID:11584042)
• A number of mutations are identified in association with congenital muscular dystrophies. (PMID:11938437)
• Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts, unlinked to the LAMA2 locus in three Tunisian patients. (PMID:12467726)
• In nine congenital muscular dystrophy patients with abnormal white-matter signal at brain MRI and partial deficiency of muscle laminin alpha 2, three novel missense and two splice-site mutations were found. (PMID:12552556)
• However, dy(W)/dy(W) mice, expressing the human laminin alpha2 under the control of the striated muscle-specific portion of the desmin promoter, still developed muscular dystrophy. (PMID:12609502)
• A mild case of autosomal recessive congenital muscular dystrophy is associated with a homozygous out-of-frame deletion in exon 56 of the LAMA2 gene. (PMID:15452315)
• DNA analysis can be used to provide accurate prenatal diagnosis of thecongenital muscular dystrophy, and have an essential role in genetic counseling. (PMID:16084089)
• identified 9 new LAMA 2 mutations (PMID:16216942)
• A relocalization of LAMA2 was noted in the subepithelial basement membrane in a group of Hirschsprung patients. (PMID:16226104)
• suggest that LNalpha1 chain in part ameliorates the development of LNalpha2 chain deficient muscular dystrophy by retaining the binding sites for integrin alpha7Bbeta1D and alpha-dystroglycan, respectively (PMID:16504180)
• Study summarizes recent progress concerning the molecular mechanisms of laminins in development and disease. (PMID:17426950)
• intron mutation is responsible for complete exon 17 skipping in severe congenital muscular dystrophy (PMID:18053718)
• the first fully characterized gross deletion in the LAMA2 gene, encompassing exon 56 (c.7750-1713_7899-2153del), detected in 31% of congenital muscular dystrophy type 1A patients (PMID:18700894)
• In patient 1, a double mutation, c.[9101_9104dupAACA:3412G>A] p.[H3035QfsX4:V1138M] was detected, Patient 2 had a novel homozygous nonsense mutation, c.2907C>A (p.Cys969X), in exon 21. (PMID:19294599)
• Crystal structure shows that the three LG domains adopt typical beta-sandwich folds, with canonical calcium binding sites in LG1 and LG2. LG2 and LG3 interact through a substantial interface, but LG1 is completely dissociated from the LG2-3 pair. (PMID:19553699)
• Ku70 is a regulator of Bax-mediated pathogenesis in laminin-alpha2-deficiency muscle cells. (PMID:19692349)
• Data show that the expression of collagen types I, III and fibronectin was significantly higher in pancreatic cancer, and the expression of collagen type IV, laminin and vitronectin was significantly lower in pancreatic cancer. (PMID:19893454)
• This large study identified novel LAMA2 mutations and highlights the role of immunohistochemical studies for merosin status in predicting clinical severity of MDC1A. (PMID:20207543)
• A single base deletion at position 8005 in the LAMA2 gene is associated with a severe form of classical congenital muscular dystrophy and partial merosin deficiency in congenital muscular dystrophy type 1A. (PMID:20477750)
• LAMA2 mutations were found in three different Russian families with congenital muscular dystrophy. (PMID:20607928)
• This largest series of patients with limb-girdle muscular dystrophy due to laminin alpha2-deficiency expands the clinical phenotype associated with LAMA2 mutations. (PMID:21953594)
• This is the first report to describe dilated cardiomyopathy with conduction defects and merosin deficiency in a patient carrying LAMA2 gene mutations. (PMID:22006699)
• Aberrant methylation at target CpG sites in GABRA1 and LAMA2 was observed with high frequency in tumor tissues. (PMID:22038115)
• Identification of cell adhesive sequences in the N-terminal region of the laminin alpha2 chain. (PMID:22654118)
• Genetic association studies identified two pathogenic mutations in the LAMA2 gene in patients with congenital muscular dystrophy. (PMID:24225367)
• 2 patients with partial laminin-alpha2 deficiency and atypical phenotypes, one with almost exclusive central nervous system involvement and second with cardiac dysfunction, rigid spine syndrome and limb-girdle weakness; both have 2 heterozygous LAMA2 variants sharing a potentially pathogenic missense mutation c.2461A>C located in exon 18 (PMID:24534542)
• Homozygous truncating mutations in POMK lead to congenital muscular dystrophies with secondary merosin deficiency, hypomyelination and intellectual disability. (PMID:24556084)
• children with LAMA2 congenital muscular dystrophy may be at nogreater risk of developing malignant hyperthermia than the general population (PMID:24628934)
• Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line. (PMID:24804215)
• Data find high frequency mutations in LAMA2 protein in hepatocellular carcinoma (HCC) patients. Its lower expression levels correlate with tumor progression, poor survival and higher chance of cancer recurrence. (PMID:25159915)
• This report widens the clinical spectrum of cerebral manifestations related with mutations in LAMA2 (PMID:25500573)
• This study demonstrates a wide clinical spectrum of LAMA2-related muscular dystrophy and its prevalence in an LGMD2 cohort, which indicates that LAMA2 muscular dystrophy should be included in the LGMD2 nomenclature. (PMID:25663498)
• Data showed miR-29a/c as novel regulators of LAMA2 in ependymoma based on miRNA-mRNA covariation and sequence-based target predictions. (PMID:25958202)
• Crystal structure of LAMM L4 domain (PMID:25962468)
• Next generation sequencing was found to be useful for molecular diagnosis of a confirmed case of merosin deficient congenital muscular dystrophy. (PMID:26104111)
• By analyzing the gene test we found that compound heterozygous LAMA2 mutation inherited from the parents. One coming from the father was a gross deletion expanding from exon 36 to exon 65. The from the mother was a missense mutation c.1358G>C (PMID:26304763)
• Differential protein expression of collagen IV, laminin alpha2, and nidogen-1 indicated basal lamina remodeling develops in ischemic failing versus nonfailing human hearts. (PMID:26756417)
• did not find positive association signals of the four single nucleotide polymorphisms in the LAMA2 and EGR1 genes with high myopia (PMID:26984843)
• Using high-throughput technology identify LAMA-2 as a candidate medullary sponge kidney disease biomarker possibly employable in future for the early diagnosis of this disease. (PMID:27914711)
• Data provide evidence that LAMA2 mutations cause congenital muscular dystrophy (MD). There are severe, non-ambulatory or milder, ambulatory variants, the latter resulting from reduced LAMA2 expression and/or deficient function. In LAMA2 MD, Lm-411 replaces Lm-211; however, Lm-411 lacks the ability to polymerize and bind to receptors. This results in a weakened basement membrane leading to the disease. [Review] (PMID:29191403)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	lama2	ENSDARG00000099390
danio_rerio		ENSDARG00000110040
danio_rerio		ENSDARG00000112019
mus_musculus	Lama2	ENSMUSG00000019899
rattus_norvegicus	Lama2	ENSRNOG00000011134

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), LAMA4 (ENSG00000112769), LAMA5 (ENSG00000130702), LAMC1 (ENSG00000135862), NTN5 (ENSG00000142233), HSPG2 (ENSG00000142798), TMEFF2 (ENSG00000144339), NTN3 (ENSG00000162068), NTNG1 (ENSG00000162631), EGFLAM (ENSG00000164318), LAMB2 (ENSG00000172037), AGRN (ENSG00000188157), NTNG2 (ENSG00000196358), LAMB3 (ENSG00000196878), TMEFF1 (ENSG00000241697)

Protein

Protein identifiers

Laminin subunit alpha-2 — P24043 (reviewed: P24043)

Alternative names: Laminin M chain, Laminin-12 subunit alpha, Laminin-2 subunit alpha, Laminin-4 subunit alpha, Merosin heavy chain

All UniProt accessions (5): A0A087WX80, A0A087WYF1, A0A8I5KQG5, A0A8I5KYA2, P24043

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-2 is a subunit of laminin-2 (laminin-211 or merosin), laminin-4 (laminin-221 or S-merosin) and laminin-12 (laminin-213). Interacts with FBLN1, FBLN2 and NID2.

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

Tissue specificity. Placenta, striated muscle, peripheral nerve, cardiac muscle, pancreas, lung, spleen, kidney, adrenal gland, skin, testis, meninges, choroid plexus, and some other regions of the brain; not in liver, thymus and bone.

Disease relevance. Merosin-deficient congenital muscular dystrophy 1A (MDC1A) [MIM:607855] Characterized by difficulty walking, hypotonia, proximal weakness, hyporeflexia, and white matter hypodensity on MRI. The disease is caused by variants affecting the gene represented in this entry. Muscular dystrophy, limb-girdle, autosomal recessive 23 (LGMDR23) [MIM:618138] A form of autosomal recessive limb-girdle muscular dystrophy, a myopathy characterized by proximal and/or distal muscle weakness and atrophy. The age at onset is variable and can range from the first to the sixth decade, although later onset is less common. LGMDR23 is characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs, increased serum creatine kinase, dystrophic features, gait difficulties, and white matter abnormalities on brain imaging. Age at onset generally ranges from childhood to mid-adulthood. Some patients may have additional neurologic features, including executive deficits, seizures, and peripheral neuropathy. 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. Domains VI, IV and G are globular.

RefSeq proteins (2): NP_000417, NP_001073291 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000034	Laminin_IV	Domain
IPR000742	EGF	Domain
IPR001791	Laminin_G	Domain
IPR002049	LE_dom	Domain
IPR008211	Laminin_N	Domain
IPR009254	Laminin_aI	Domain
IPR010307	Laminin_dom_II	Domain
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR050440	Laminin/Netrin_ECM	Family
IPR056863	LMN_ATRN_NET-like_EGF	Domain

Pfam: PF00052, PF00053, PF00054, PF00055, PF02210, PF06008, PF06009, PF24973

UniProt features (203 total): disulfide bond 66, sequence variant 50, glycosylation site 28, domain 27, strand 12, sequence conflict 8, helix 4, turn 2, region of interest 2, signal peptide 1, chain 1, coiled-coil region 1, compositionally biased region 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
4YEP	X-RAY DIFFRACTION	1.19
4YEQ	X-RAY DIFFRACTION	3.2

Predicted structure (AlphaFold)

No AlphaFold model available for P24043 — AlphaFold DB does not currently provide models for proteins above ~3000 aa.

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 (66): 1044–1057, 1060–1072, 1062–1079, 1081–1090, 1093–1103, 1106–1118, 1108–1134, 1136–1145, 1148–1163, 1420–1429, 1422–1436, 1439–1448, 1451–1466, 1469–1484, 1471–1494, 1497–1506, 1509–1524, 1527–1539, 1529–1546, 1548–1557 …

Glycosylation sites (28): 55, 89, 303, 363, 380, 470, 746, 1061, 1597, 1614, 1700, 1810, 1901, 1916, 1920, 2017, 2028, 2045, 2126, 2240 …

Function

Pathways and Gene Ontology

Reactome pathways

15 pathways

ID	Pathway
R-HSA-3000157	Laminin interactions
R-HSA-3000171	Non-integrin membrane-ECM interactions
R-HSA-3000178	ECM proteoglycans
R-HSA-8874081	MET activates PTK2 signaling
R-HSA-9619665	EGR2 and SOX10-mediated initiation of Schwann cell myelination
R-HSA-9638630	Attachment of bacteria to epithelial cells
R-HSA-9913351	Formation of the dystrophin-glycoprotein complex (DGC)
R-HSA-9925563	Developmental Lineage of Pancreatic Ductal Cells
R-HSA-1266738	Developmental Biology
R-HSA-1474244	Extracellular matrix organization
R-HSA-162582	Signal Transduction
R-HSA-6806834	Signaling by MET
R-HSA-8875878	MET promotes cell motility
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases
R-HSA-9675108	Nervous system development

MSigDB gene sets: 394 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, MULLIGHAN_NPM1_SIGNATURE_3_UP, BERTUCCI_MEDULLARY_VS_DUCTAL_BREAST_CANCER_DN, YAO_HOXA10_TARGETS_VIA_PROGESTERONE_UP, GOBP_POSITIVE_REGULATION_OF_MUSCLE_CELL_DIFFERENTIATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_SYNAPTIC_TRANSMISSION_CHOLINERGIC, GOBP_NEUROGENESIS, MODULE_329, GOBP_REGULATION_OF_EXTRACELLULAR_MATRIX_ORGANIZATION, CLASPER_LYMPHATIC_VESSELS_DURING_METASTASIS_DN, MODULE_70, GOBP_CELL_CELL_SIGNALING, GOBP_POSITIVE_REGULATION_OF_CELL_ADHESION

GO Biological Process (13): cell adhesion (GO:0007155), axon guidance (GO:0007411), muscle organ development (GO:0007517), Schwann cell differentiation (GO:0014037), regulation of cell migration (GO:0030334), positive regulation of synaptic transmission, cholinergic (GO:0032224), maintenance of blood-brain barrier (GO:0035633), positive regulation of cell adhesion (GO:0045785), regulation of embryonic development (GO:0045995), positive regulation of muscle cell differentiation (GO:0051149), regulation of basement membrane organization (GO:0110011), positive regulation of integrin-mediated signaling pathway (GO:2001046), regulation of cell adhesion (GO:0030155)

GO Molecular Function (3): signaling receptor binding (GO:0005102), structural molecule activity (GO:0005198), extracellular matrix structural constituent (GO:0005201)

GO Cellular Component (8): extracellular region (GO:0005576), basement membrane (GO:0005604), extracellular matrix (GO:0031012), neuromuscular junction (GO:0031594), sarcolemma (GO:0042383), synaptic cleft (GO:0043083), dendritic spine (GO:0043197), protein complex involved in cell-matrix adhesion (GO:0098637)

Reactome top-level categories

Rollup of top-10 pathways:

Category	Pathways
Extracellular matrix organization	3
MET promotes cell motility	1
Nervous system development	1
Biofilm formation	1
Non-integrin membrane-ECM interactions	1
Developmental Cell Lineages of the Exocrine Pancreas	1
Signaling by Receptor Tyrosine Kinases	1
Signaling by MET	1
Signal Transduction	1
Developmental Biology	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell adhesion	2
extracellular matrix	2
cellular anatomical structure	2
cellular process	1
axonogenesis	1
neuron projection guidance	1
animal organ development	1
muscle structure development	1
peripheral nervous system development	1
glial cell differentiation	1
cell migration	1
regulation of cell motility	1
synaptic transmission, cholinergic	1
regulation of synaptic transmission, cholinergic	1
positive regulation of synaptic transmission	1
tissue homeostasis	1
regulation of cell adhesion	1
positive regulation of cellular process	1
embryo development	1
regulation of multicellular organismal development	1
muscle cell differentiation	1
positive regulation of cell differentiation	1
regulation of muscle cell differentiation	1
basement membrane organization	1
regulation of extracellular matrix organization	1
integrin-mediated signaling pathway	1
positive regulation of signal transduction	1
regulation of integrin-mediated signaling pathway	1
regulation of cellular process	1
protein binding	1
molecular_function	1
structural molecule activity	1
external encapsulating structure	1
synapse	1
plasma membrane	1
extracellular region	1
dendrite	1
neuron spine	1
postsynapse	1
protein complex involved in cell adhesion	1

Protein interactions and networks

STRING

2644 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LAMA2	DAG1	Q14118	996
LAMA2	DMD	P11532	957
LAMA2	FKRP	Q9H9S5	912
LAMA2	SGCA	Q16586	905
LAMA2	DYSF	O75923	866
LAMA2	POMT1	Q9Y6A1	809
LAMA2	FKTN	O75072	794
LAMA2	NID1	P14543	782
LAMA2	SGCD	Q92629	781
LAMA2	LAMC1	P11047	771
LAMA2	SELENON	Q9NZV5	762
LAMA2	POMT2	Q9UKY4	743
LAMA2	UTRN	P46939	736
LAMA2	COL12A1	Q99715	734
LAMA2	LAMB1	P07942	732

IntAct

15 interactions, top by confidence:

A	B	Type	Score
LAMA2	DAG1	psi-mi:“MI:0407”(direct interaction)	0.440
ANKRD40	LAMA2	psi-mi:“MI:0915”(physical association)	0.400
LAMA2	H1-2	psi-mi:“MI:0915”(physical association)	0.400
LAMA2	H1-5	psi-mi:“MI:0915”(physical association)	0.400
H3C13	LAMA2	psi-mi:“MI:0915”(physical association)	0.400
LAMA2	H1-1	psi-mi:“MI:0915”(physical association)	0.400
LAMA2	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
LAMA2	GAMMAHV.ORF33	psi-mi:“MI:0915”(physical association)	0.370
SMC6	IFT88	psi-mi:“MI:0914”(association)	0.350
Naa10	MYO9A	psi-mi:“MI:0914”(association)	0.350
TEPSIN	DERL1	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
SNAPIN	LAMA2	psi-mi:“MI:0915”(physical association)	0.000
TRIM63	LAMA2	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (29): LAMA2 (Affinity Capture-MS), LAMA2 (Affinity Capture-MS), LAMA2 (Affinity Capture-MS), LAMA2 (Synthetic Lethality), LAMA2 (Affinity Capture-MS), HIST1H1A (Proximity Label-MS), HIST1H2BH (Proximity Label-MS), LAMA2 (Proximity Label-MS), LAMA2 (Proximity Label-MS), LAMA2 (Proximity Label-MS), ANKRD40 (Proximity Label-MS), LAMA2 (Two-hybrid), LAMA2 (Two-hybrid), LAMA2 (Affinity Capture-MS), LAMA2 (Affinity Capture-RNA)

ESM2 similar proteins: A0A6I8RMG7, A2A863, A2VCU8, A7E2Z9, P01130, P01131, P04412, P0CY46, P16144, P18563, P18564, P24043, P35555, P35950, P35952, P35953, P98133, P98155, P98156, P98165, P98166, Q1RPR6, Q28832, Q2KIT5, Q3UZV7, Q4G063, Q4V7M2, Q5XH36, Q60438, Q61220, Q61554, Q62918, Q64632, Q6AYF4, Q6DDW2, Q6UXH1, Q7SXF6, Q7ZXL5, Q863C4, Q8CFM6

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

1 interactions.

A	Effect	B	Mechanism
LAMA2	“form complex”	DGC	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 18 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 term	Partners	Fold	FDR
nucleosome assembly	5	54.0×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

5470 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	487
Likely pathogenic	434
Uncertain significance	1541
Likely benign	2274
Benign	185

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1028256	NM_000426.4(LAMA2):c.7898+1G>A	Pathogenic
1031567	NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter)	Pathogenic
1066310	NM_000426.4(LAMA2):c.4860+2T>C	Pathogenic
1068853	NM_000426.4(LAMA2):c.5795_5804del (p.Lys1932fs)	Pathogenic
1069078	NM_000426.4(LAMA2):c.4368T>A (p.Tyr1456Ter)	Pathogenic
1069086	NM_000426.4(LAMA2):c.7393_7394del (p.Ala2464_Asp2465insTer)	Pathogenic
1069113	NM_000426.4(LAMA2):c.8541del (p.Trp2847fs)	Pathogenic
1069271	NM_000426.4(LAMA2):c.2500G>T (p.Gly834Ter)	Pathogenic
1069368	NM_000426.4(LAMA2):c.4523G>C (p.Arg1508Thr)	Pathogenic
1069372	NM_000426.4(LAMA2):c.9191dup (p.Phe3065fs)	Pathogenic
1069413	NM_000426.4(LAMA2):c.2520dup (p.Gly841fs)	Pathogenic
1069560	NC_000006.11:g.(?129837325)(129837502_?)del	Pathogenic
1069561	NC_000006.11:g.(?129486711)(129486830_?)del	Pathogenic
1069803	NM_000426.4(LAMA2):c.910-1G>A	Pathogenic
1070507	NM_000426.4(LAMA2):c.6993-2A>G	Pathogenic
1070781	NM_000426.4(LAMA2):c.8748del (p.Glu2917fs)	Pathogenic
1071850	NM_000426.4(LAMA2):c.1824T>G (p.Tyr608Ter)	Pathogenic
1072322	NM_000426.4(LAMA2):c.2042T>A (p.Leu681Ter)	Pathogenic
1072450	NM_000426.4(LAMA2):c.6573del (p.Phe2191fs)	Pathogenic
1073098	NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1234delinsPhePhePhePhePhePhePhePheTer)	Pathogenic
1073388	NM_000426.4(LAMA2):c.3300C>A (p.Tyr1100Ter)	Pathogenic
1073988	NM_000426.4(LAMA2):c.3332del (p.Pro1111fs)	Pathogenic
1074303	NM_000426.4(LAMA2):c.652_653del (p.Leu218fs)	Pathogenic
1074594	NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTTT (p.Tyr1234delinsPhePhePheXaaXaaXaaXaaArgMetValSerIleSerTer)	Pathogenic
1074786	NM_000426.4(LAMA2):c.6964del (p.Glu2322fs)	Pathogenic
1074894	NM_000426.4(LAMA2):c.3874del (p.Ala1292fs)	Pathogenic
1075019	NM_000426.4(LAMA2):c.7814del (p.Thr2605fs)	Pathogenic
1075439	NM_000426.4(LAMA2):c.4814_4830del (p.Pro1605fs)	Pathogenic
1075509	NC_000006.11:g.(?129204381)(129837502_?)del	Pathogenic
1075510	NC_000006.11:g.(?129712616)(129712818_?)del	Pathogenic

SpliceAI

7558 predictions. Top by Δscore:

Variant	Effect	Δscore
6:128883355:G:GT	donor_gain	1.0000
6:128883355:GAG:G	donor_gain	1.0000
6:128883355:GAGGT:G	donor_loss	1.0000
6:128883356:AGG:A	donor_loss	1.0000
6:128883357:GGTA:G	donor_loss	1.0000
6:129049912:TTTCA:T	acceptor_loss	1.0000
6:129049913:TTCA:T	acceptor_loss	1.0000
6:129049914:TCA:T	acceptor_loss	1.0000
6:129049915:CAG:C	acceptor_loss	1.0000
6:129049916:A:AC	acceptor_loss	1.0000
6:129049916:A:AG	acceptor_gain	1.0000
6:129049917:G:A	acceptor_loss	1.0000
6:129049917:G:GG	acceptor_gain	1.0000
6:129049917:GGTTT:G	acceptor_gain	1.0000
6:129050085:AACC:A	donor_gain	1.0000
6:129050086:ACC:A	donor_gain	1.0000
6:129050087:CC:C	donor_gain	1.0000
6:129050088:CG:C	donor_loss	1.0000
6:129050089:G:GA	donor_loss	1.0000
6:129050089:G:GG	donor_gain	1.0000
6:129050090:TAT:T	donor_loss	1.0000
6:129059761:A:AG	acceptor_gain	1.0000
6:129059761:ATAT:A	acceptor_gain	1.0000
6:129059763:A:AG	acceptor_gain	1.0000
6:129059763:AT:A	acceptor_gain	1.0000
6:129059763:ATGAT:A	acceptor_gain	1.0000
6:129059764:T:A	acceptor_gain	1.0000
6:129059764:T:G	acceptor_gain	1.0000
6:129059892:AGCAG:A	donor_loss	1.0000
6:129059894:CAG:C	donor_loss	1.0000

AlphaMissense

20616 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:129050004:T:A	C67S	1.000
6:129050004:T:C	C67R	1.000
6:129050005:G:A	C67Y	1.000
6:129050005:G:C	C67S	1.000
6:129050006:C:G	C67W	1.000
6:129050052:T:A	C83S	1.000
6:129050052:T:C	C83R	1.000
6:129050053:G:C	C83S	1.000
6:129059828:T:A	W110R	1.000
6:129059828:T:C	W110R	1.000
6:129059830:G:C	W110C	1.000
6:129059830:G:T	W110C	1.000
6:129059834:A:C	S112R	1.000
6:129059836:T:A	S112R	1.000
6:129059836:T:G	S112R	1.000
6:129098230:T:A	W152R	1.000
6:129098230:T:C	W152R	1.000
6:129098272:T:A	W166R	1.000
6:129098272:T:C	W166R	1.000
6:129098302:T:A	C176S	1.000
6:129098302:T:C	C176R	1.000
6:129098303:G:C	C176S	1.000
6:129098371:T:A	C199S	1.000
6:129098371:T:C	C199R	1.000
6:129098372:G:A	C199Y	1.000
6:129098372:G:C	C199S	1.000
6:129098373:C:G	C199W	1.000
6:129143986:G:C	R242P	1.000
6:129445801:G:C	A2137P	1.000
6:129445805:G:C	R2138P	1.000

dbSNP variants (sampled 300 via entrez): RS1000001083 (6:129071822 T>C), RS1000001517 (6:129213182 G>A,T), RS1000002707 (6:129292074 C>T), RS1000013731 (6:129275526 T>A), RS1000014857 (6:129331764 A>G), RS1000020211 (6:129423107 A>C), RS1000023727 (6:129199651 A>G,T), RS1000027103 (6:129509642 T>A), RS1000027807 (6:129233795 A>C), RS1000030545 (6:128893419 T>C), RS1000034334 (6:128984728 T>C), RS1000036436 (6:129375933 C>T), RS1000039750 (6:129209106 T>C), RS1000040536 (6:129289758 A>G), RS1000050727 (6:129157487 T>C,G)

Disease associations

OMIM: gene MIM:156225 | disease phenotypes: MIM:618138, MIM:607855, MIM:181500, MIM:118220, MIM:160500

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital merosin-deficient muscular dystrophy 1A	Definitive	Autosomal recessive
muscular dystrophy, limb-girdle, autosomal recessive 23	Strong	Autosomal recessive
LAMA2-related muscular dystrophy	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
LAMA2-related muscular dystrophy	Definitive	AR

Mondo (14): LAMA2-related muscular dystrophy (MONDO:0100228), muscular dystrophy, limb-girdle, autosomal recessive 23 (MONDO:0029136), dilated cardiomyopathy (MONDO:0005021), congenital merosin-deficient muscular dystrophy 1A (MONDO:0011925), muscular dystrophy (MONDO:0020121), congenital muscular dystrophy (MONDO:0019950), intellectual disability (MONDO:0001071), schizophrenia (MONDO:0005090), Charcot-Marie-Tooth disease (MONDO:0015626), hypertrophic cardiomyopathy (MONDO:0005045), muscle tissue disorder (MONDO:0003939), distal myopathy (MONDO:0018949), polymicrogyria (MONDO:0000087), limb-girdle muscular dystrophy (MONDO:0016971)

Orphanet (14): Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 (Orphanet:565837), Dilated cardiomyopathy (Orphanet:217604), Laminin subunit alpha 2-related congenital muscular dystrophy (Orphanet:258), Muscular dystrophy (Orphanet:98473), Congenital muscular dystrophy (Orphanet:97242), Laminin subunit alpha 2-related muscular dystrophy (Orphanet:207094), Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy (Orphanet:166), Rare hypertrophic cardiomyopathy (Orphanet:217569), Distal myopathy (Orphanet:599), Polymicrogyria (Orphanet:35981), Limb-girdle muscular dystrophy (Orphanet:263), Rare genetic intellectual disability (Orphanet:183757), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658), NON RARE IN EUROPE: Schizophrenia (Orphanet:3140)

HPO phenotypes

86 total (30 of 86 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000158	Macroglossia
HP:0000194	Open mouth
HP:0000602	Ophthalmoplegia
HP:0000649	Abnormality of visual evoked potentials
HP:0000762	Decreased nerve conduction velocity
HP:0001249	Intellectual disability
HP:0001250	Seizure
HP:0001252	Hypotonia
HP:0001270	Motor delay
HP:0001284	Areflexia
HP:0001302	Pachygyria
HP:0001315	Reduced tendon reflexes
HP:0001319	Neonatal hypotonia
HP:0001324	Muscle weakness
HP:0001339	Lissencephaly
HP:0001371	Flexion contracture
HP:0001612	Weak cry
HP:0001638	Cardiomyopathy
HP:0001939	Abnormality of metabolism/homeostasis
HP:0002015	Dysphagia
HP:0002020	Gastroesophageal reflux
HP:0002058	Myopathic facies
HP:0002092	Pulmonary arterial hypertension
HP:0002093	Respiratory insufficiency
HP:0002121	Generalized non-motor (absence) seizure
HP:0002181	Cerebral edema
HP:0002375	Hypokinesia
HP:0002446	Astrocytosis
HP:0002500	Abnormal cerebral white matter morphology

GWAS associations

27 associations (top):

Study	Trait	p-value
GCST000642_1	Body mass index	4.000000e-07
GCST001858_11	Refractive error	2.000000e-12
GCST002115_10	Axial length	1.000000e-08
GCST002312_6	Periodontal disease-related phenotype (Socransky)	2.000000e-06
GCST002337_130	Amyotrophic lateral sclerosis (sporadic)	3.000000e-06
GCST002615_1	Myopia	9.000000e-06
GCST002617_1	Hyperopia	2.000000e-07
GCST003455_11	Spherical equivalent (joint analysis main effects and education interaction)	1.000000e-21
GCST003455_12	Spherical equivalent (joint analysis main effects and education interaction)	1.000000e-21
GCST003542_127	Night sleep phenotypes	6.000000e-06
GCST003542_150	Night sleep phenotypes	7.000000e-06
GCST003997_47	Myopia	5.000000e-102
GCST006291_127	Spherical equivalent or myopia (age of diagnosis)	4.000000e-84
GCST007017_3	Serum bilirubin levels x Mediterranean diet adherence interaction in metabolic syndrome	2.000000e-06
GCST007017_8	Serum bilirubin levels x Mediterranean diet adherence interaction in metabolic syndrome	5.000000e-06
GCST007327_71	Smoking status (ever vs never smokers)	4.000000e-08
GCST007559_1	Sleep duration (short sleep)	4.000000e-08
GCST008529_31	Tea consumption	4.000000e-06
GCST008839_20	Height	2.000000e-11
GCST009391_77	Metabolite levels	2.000000e-07
GCST009959_2	Retinal detachment or retinal break	8.000000e-07
GCST009962_10	High myopia	7.000000e-23
GCST010397_111	Gut microbiota (bacterial taxa, rank normal transformation method)	3.000000e-07
GCST012400_105	Low myopia vs hyperopia	2.000000e-32
GCST012401_4	Hyperopia	3.000000e-14
GCST012403_70	High myopia	5.000000e-20
GCST90000025_71	Appendicular lean mass	1.000000e-16

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index
EFO:0005318	axial length measurement
EFO:0004784	self reported educational attainment
EFO:0004847	age at onset
EFO:0004570	bilirubin measurement
EFO:0008111	diet measurement
EFO:0004318	smoking behavior
EFO:0010091	tea consumption measurement
EFO:0010698	retinal break
EFO:0007874	gut microbiome measurement
EFO:0004980	appendicular lean mass

MeSH disease descriptors (8)

Descriptor	Name	Tree numbers
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750
D002312	Cardiomyopathy, Hypertrophic	C14.280.238.100; C14.280.484.048.750.070.160
D002607	Charcot-Marie-Tooth Disease	C10.500.300.200; C10.574.500.495.200; C10.668.829.800.300.200; C16.131.666.300.200; C16.320.400.375.200
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009135	Muscular Diseases	C05.651; C10.668.491
D009136	Muscular Dystrophies	C05.651.534.500; C10.668.491.175.500; C16.320.577
D049288	Muscular Dystrophies, Limb-Girdle	C05.651.534.500.280; C10.668.491.175.500.149; C16.320.577.280
D065706	Polymicrogyria	C10.500.507.500.500; C16.131.666.507.500.500

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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, increases expression	7
Doxorubicin	decreases expression, increases expression, increases response to substance	3
Tobacco Smoke Pollution	decreases expression, increases expression, affects expression	3
Panobinostat	affects cotreatment, increases expression	2
Benzo(a)pyrene	increases methylation, affects methylation	2
Isotretinoin	increases expression, decreases expression	2
sotorasib	affects cotreatment, decreases expression	1
4-oxoretinoic acid	decreases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
bisphenol A	increases expression	1
terbufos	increases methylation	1
trichostatin A	increases expression	1
arsenite	increases methylation	1
sodium arsenite	affects methylation	1
S-(1,2-dichlorovinyl)cysteine	affects cotreatment, increases expression	1
chromium hexavalent ion	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
2,2’,4,4’,5-brominated diphenyl ether	decreases expression	1
abrine	increases expression	1
quinocetone	increases expression	1
dorsomorphin	increases expression, affects cotreatment	1
bisphenol S	decreases expression	1
trametinib	affects cotreatment, decreases expression	1
(+)-JQ1 compound	decreases expression	1
NVP-BKM120	affects cotreatment, decreases expression	1
Alitretinoin	decreases expression	1
Arsenates	affects cotreatment, increases expression	1
Arsenicals	increases methylation	1
Atrazine	affects cotreatment, increases expression	1

Cellosaurus cell lines

18 cell lines: 7 finite cell line, 6 transformed cell line, 4 induced pluripotent stem cell, 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A7LC	DMBi001-A-1	Induced pluripotent stem cell	Male
CVCL_AY69	GM23327	Finite cell line	Male
CVCL_AY75	GM23507	Transformed cell line	Male
CVCL_AY80	GM23670	Transformed cell line	Male
CVCL_AZ02	GM24219	Finite cell line	Female
CVCL_AZ04	GM24230	Finite cell line	Female
CVCL_AZ14	GM24249	Transformed cell line	Female
CVCL_AZ17	GM24255	Transformed cell line	Female
CVCL_AZ21	GM24261	Finite cell line	Female
CVCL_AZ30	GM24463	Transformed cell line	Male

Clinical trials (associated diseases)

166 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
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