LAMP2

Summary

LAMP2 (lysosome associated membrane protein 2, HGNC:6501) is a protein-coding gene on chromosome Xq24, encoding Lysosome-associated membrane glycoprotein 2 (P13473). Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation and autophagy. It is haploinsufficient (ClinGen: sufficient evidence).

The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins.

Source: NCBI Gene 3920 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Danon disease (Definitive, ClinGen)
• Clinical variants (ClinVar): 950 total — 117 pathogenic, 29 likely-pathogenic
• Phenotypes (HPO): 37
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency sufficient evidence, triplosensitivity no evidence
• MANE Select transcript: NM_002294

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6501
Approved symbol	LAMP2
Name	lysosome associated membrane protein 2
Location	Xq24
Locus type	gene with protein product
Status	Approved
Aliases	CD107b
Ensembl gene	ENSG00000005893
Ensembl biotype	protein_coding
OMIM	309060
Entrez	3920

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 18 protein_coding, 1 nonsense_mediated_decay

ENST00000200639, ENST00000371335, ENST00000434600, ENST00000486593, ENST00000706600, ENST00000866853, ENST00000866854, ENST00000866855, ENST00000866856, ENST00000866857, ENST00000866858, ENST00000936274, ENST00000952162, ENST00000952163, ENST00000952164, ENST00000952165, ENST00000952166, ENST00000952167, ENST00000952168

RefSeq mRNA: 3 — MANE Select: NM_002294 NM_001122606, NM_002294, NM_013995

CCDS: CCDS14599, CCDS14600, CCDS48159

Canonical transcript exons

ENST00000200639 — 9 exons

Exon	Start	End
ENSE00000374515	120442599	120442662
ENSE00000675764	120455357	120455570
ENSE00000854520	120441730	120441894
ENSE00000854522	120446305	120446427
ENSE00000854523	120447841	120448025
ENSE00000854524	120448970	120449128
ENSE00001187748	120426148	120431462
ENSE00003615412	120456651	120456769
ENSE00003896841	120469106	120469296

Expression profiles

Bgee: expression breadth ubiquitous, 301 present calls, max score 99.23.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 122.7441 / max 3093.6267, expressed in 1825 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
200349	122.7441	1825

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
corpus callosum	UBERON:0002336	99.23	gold quality
lateral globus pallidus	UBERON:0002476	98.82	gold quality
nephron tubule	UBERON:0001231	98.81	gold quality
parotid gland	UBERON:0001831	98.73	gold quality
gall bladder	UBERON:0002110	98.56	gold quality
inferior vagus X ganglion	UBERON:0005363	98.53	gold quality
stromal cell of endometrium	CL:0002255	98.40	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	98.39	gold quality
gingival epithelium	UBERON:0001949	98.34	gold quality
substantia nigra pars reticulata	UBERON:0001966	98.25	gold quality
esophagus squamous epithelium	UBERON:0006920	98.23	gold quality
spinal cord	UBERON:0002240	98.22	gold quality
subthalamic nucleus	UBERON:0001906	98.14	gold quality
gingiva	UBERON:0001828	98.03	gold quality
cranial nerve II	UBERON:0000941	97.85	gold quality
islet of Langerhans	UBERON:0000006	97.83	gold quality
epithelium of esophagus	UBERON:0001976	97.65	gold quality
upper leg skin	UBERON:0004262	97.65	gold quality
pigmented layer of retina	UBERON:0001782	97.62	gold quality
retina	UBERON:0000966	97.59	gold quality
germinal epithelium of ovary	UBERON:0001304	97.52	gold quality
saliva-secreting gland	UBERON:0001044	97.46	gold quality
squamous epithelium	UBERON:0006914	97.35	gold quality
monocyte	CL:0000576	97.29	gold quality
substantia nigra pars compacta	UBERON:0001965	97.26	gold quality
middle frontal gyrus	UBERON:0002702	97.25	gold quality
minor salivary gland	UBERON:0001830	97.19	gold quality
substantia nigra	UBERON:0002038	97.19	gold quality
endothelial cell	CL:0000115	97.14	gold quality
midbrain	UBERON:0001891	97.14	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 5.

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	82.13
E-MTAB-6701	yes	39.35
E-GEOD-84465	yes	13.10
E-CURD-46	yes	9.77
E-ENAD-17	no	1241.62
E-MTAB-3929	no	690.66
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): VPS35

miRNA regulators (miRDB)

101 targeting LAMP2, 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-1277-5P	100.00	73.95	5056
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-574-5P	100.00	66.01	989
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-552-5P	99.93	68.56	1583

Functional genomics

ClinGen dosage: haploinsufficiency 3 (sufficient evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 40)

• review of structure, function, cell and tissue distribution, intracellular trafficking (PMID:12144129)
• This studu showed decreased LAMP2 expression in the sketal muscle in female patient with Danon disease. (PMID:14561493)
• The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities (PMID:15673802)
• role for the lysosomal Lamp-2a-hsc70 complex in promoting immunological recognition and antigen presentation (PMID:15894275)
• LAMP2 mutations may account for significant proportion of cases of hypertrophic cardiomyopathy children, especially when skeletal myopathy and/or Wolff-Parkinson-White syndrome is present. Danon disease may be underrecognized in pediatric cardiology. (PMID:16144992)
• Novel evidence for differential expression of HBGA and LAMPs in proliferative and involutive phases of immunohistochemistry is presented. (PMID:16570122)
• LAMP-1 and LAMP-2 may have roles in accidental involution of the thymic gland (PMID:17048695)
• Our report further expands the phenotype of Danon disease by describing retinopathy in 3 cases. A thorough clinical examination, including ophthalmic investigation, is needed in all cases of Danon disease. (PMID:17296900)
• Data show that cells lacking either LAMP-1 or LAMP-2 alone formed phagosomes that gradually acquired microbicidal activity and curtailed bacterial growth, but LAMP-1 and LAMP-2 double-deficient cells failed to kill engulfed Neisseria gonorrhoeae. (PMID:17506821)
• The biopsied muscle specimen stained for LAMP2 and confirmed the diagnosis of vacuolar myopathy with dilated cardiomyopathy. (PMID:17873513)
• Analysis of the lysosome-associated membrane protein-2 (LAMP-2) gene detected a novel mutation, confirming a diagnosis of Danon disease. (PMID:17899313)
• A new intronic mutation in the LAMP2 gene in French Candian family leading to out frame skppin of exon 7 in Dannon disease. (PMID:18004770)
• mutation located at the second nucleotide in the intron 8 of the Lamp-2 gene (c.1093+2 T>A) that generated exon 8 skipping confirmed at RNA level in Danon disease (PMID:18061453)
• UCH-L1 directly interacted with the cytosolic region of LAMP-2A. (PMID:18550537)
• Despite its abundance, LAMP-1 is not essential, but LAMP-2 may be partially important for the Salmonella-containing vacuolar membrane. (PMID:18958159)
• Danon disease is an X-linked dominant multisystem disorder that includes hypertrophic cardiomyopathy with skeletal myopathy, and results from mutations in the gene encoding the lysosome-associated membrane protein-2 (LAMP-2). (PMID:19057086)
• Most Hassal’s corpuscules in thymoma were negative for LAMPs, but positive in normal thymus. Both lymphocytes and epithelial cells in pathological thymus showed higher intensity for LAMP-2 compared with LAMP-1. (PMID:19343823)
• Impaired autolysosome formation correlates with Lamp-2 depletion: role of apoptosis, autophagy, and necrosis in pancreatitis. (PMID:19362087)
• Data show that The cell surface expression levels of (ICAM)-2 and -3 on the apoptotic cells were markedly lower, while those of calnexin, calreticulin, and (LAMP)-1 and -2 were significantly higher compared to non-apoptotic cells. (PMID:19524015)
• Mutational analysis of PRKAG2, LAMP2, and NKX2-5 genes in a cohort of 125 patients with accessory atrioventricular connection. (PMID:19533775)
• Data show that the BCG phagosome is relatively depleted in LAMP-2, NPC1, flotillin-1, vATPase, and syntaxin 3. (PMID:19815536)
• The LAMP2 microdeletion mechanism appears to involve 1 Alu-mediated unequal recombination and 2 chromosomal breakage points involving TA-rich repeat sequences. (PMID:20173215)
• Danon disease is caused by deficiency of lysosome-associated membrane protein-2 (LAMP-2). (PMID:20513107)
• gene deficient B cells exhibit altered MHC class II presentation of exogenous antigens (PMID:20518820)
• Lysosome-associated membrane protein (LAMP2) cardiomyopathy is an X-linked and highly progressive myocardial storage disorder associated with diminished survival, which clinically resembles sarcomeric hypertrophic cardiomyopathy. (PMID:20920663)
• Immunohistochemistry studies showed EGBs to exhibit pronounced reactivity to antibodies against lysosome-associated membrane proteins (LAMP)-1 and LAMP-2, and the lysosomal enzyme cathepsin D. (PMID:20926008)
• intrafamilial phenotypic variability in Danon disease is related to a novel LAMP-2 mutation (PMID:21161685)
• Peripheral leukocyte LAMP-2 expression is significantly inceased in coronary artery disease. (PMID:21462217)
• decreased LAMP-2 gene expression and increased LC3 gene expression may contribute to the pathogenesis of sporadic Parkinson’s disease (PMID:21514572)
• A novel LAMP2 mutation (c.940delG) in Danon disease patients, which results in a putatively truncated protein. (PMID:22365987)
• findings indicated that patients with Danon disease caused by mutations in exon 1 - 8 manifested as a typically severe phenotype, while patients with mutations in exon 9 of the LAMP2B isoform presented with a relatively benign phenotype (PMID:22541782)
• LAMP proteins retain TAPL on the limiting membrane of endosomes and prevent its sorting to intraluminal vesicles. (PMID:22641697)
• There is a progressive, age-related decrease of LAMP-2 gene expression in the peripheral leukocytes of healthy subjects, indicating a trend of decreasing autophagy activities with aging. (PMID:22732524)
• variants within LAMP-2 gene promoter may be linked to Parkinson disease. (PMID:22867958)
• expression of LAMP2A was observed in breast tumor tissues of all patients under investigation, suggesting a survival mechanism via chaperone-mediated autophagy and LAMP2A. (PMID:22874552)
• Studies suggest that Hsc70 and lysosome-associated protein 2A (LAMP-2A) through chaperone-mediated autophagy (CMA) play a role in the clearance of Htt and suggest a novel strategy to target the degradation of mutant huntingtin (Htt). (PMID:23071649)
• Decreased levels of the chaperone-mediated autophagy proteins LAMP-2A and hsc70 (CMA) in Parkinson’s disease brain samples suggests compromised alpha-synuclein degradation by CMA and may underpin the Lewy body pathology. (PMID:23492776)
• indicate that monoclonal antibodies specific to CD107a (LAMP-1) or CD107b (LAMP-2) enhanced LPS-induced IL-8 secretion of THP-1 cells. (PMID:23603048)
• These data support a positive relationship between anti-LAMP-2 antibody and cutaneous vasculitis. (PMID:23704322)
• LAMP2 has a role in differentiation of primary biliary cirrhosis (PMID:24007661)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	lamp2	ENSDARG00000014914
mus_musculus	Lamp2	ENSMUSG00000016534
rattus_norvegicus	Lamp2	ENSRNOG00000000164

Paralogs (3): LAMP5 (ENSG00000125869), CD68 (ENSG00000129226), LAMP1 (ENSG00000185896)

Protein

Protein identifiers

Lysosome-associated membrane glycoprotein 2 — P13473 (reviewed: P13473)

Alternative names: CD107 antigen-like family member B, LGP-96

All UniProt accessions (3): P13473, A0A9L9PXQ4, H0YCG2

UniProt curated annotations — full annotation on UniProt →

Function. Lysosomal membrane glycoprotein which plays an important role in lysosome biogenesis, lysosomal pH regulation and autophagy. Acts as an important regulator of lysosomal lumen pH regulation by acting as a direct inhibitor of the proton channel TMEM175, facilitating lysosomal acidification for optimal hydrolase activity. Plays an important role in chaperone-mediated autophagy, a process that mediates lysosomal degradation of proteins in response to various stresses and as part of the normal turnover of proteins with a long biological half-live. Functions by binding target proteins, such as GAPDH, GPX4, NLRP3 and MLLT11, and targeting them for lysosomal degradation. In the chaperone-mediated autophagy, acts downstream of chaperones, such as HSPA8/HSC70, which recognize and bind substrate proteins and mediate their recruitment to lysosomes, where target proteins bind LAMP2. Plays a role in lysosomal protein degradation in response to starvation. Required for the fusion of autophagosomes with lysosomes during autophagy. Cells that lack LAMP2 express normal levels of VAMP8, but fail to accumulate STX17 on autophagosomes, which is the most likely explanation for the lack of fusion between autophagosomes and lysosomes. Required for normal degradation of the contents of autophagosomes. Required for efficient MHC class II-mediated presentation of exogenous antigens via its function in lysosomal protein degradation; antigenic peptides generated by proteases in the endosomal/lysosomal compartment are captured by nascent MHC II subunits. Is not required for efficient MHC class II-mediated presentation of endogenous antigens. Modulates chaperone-mediated autophagy. Decreases presentation of endogenous antigens by MHCII. Does not play a role in the presentation of exogenous and membrane-derived antigens by MHCII. (Microbial infection) Supports the FURIN-mediated cleavage of mumps virus fusion protein F by interacting with both FURIN and the unprocessed form but not the processed form of the viral protein F.

Subunit / interactions. Monomer. Homodimer. Homotrimer. Forms large homooligomers. Interacts (via its cytoplasmic region) with HSPA8; HSPA8 mediates recruitment of proteins with a KFERQ motif to the surface of the lysosome for chaperone-mediated autophagy. Interacts with HSP90 in the lysosome lumen; this enhances LAMP2 stability. Interacts with MLLT11. Interacts with ABCB9. Interacts with FURIN. Interacts with CT55; this interaction may be important for LAMP2 protein stability. Interacts with TMEM175; inhibiting the proton channel activity of TMEM175. Forms a ternary complex with RAB7A and RUFY4 (via RUN domain); the interaction with RAB7A is mediated by RUFY4 (via RUN and coiled coil domains). (Microbial infection) Interacts with mumps virus protein F; this interaction promotes protein F cleavage by FURIN.

Subcellular location. Lysosome membrane. Endosome membrane. Cell membrane. Cytoplasmic vesicle. Autophagosome membrane.

Tissue specificity. Isoform LAMP-2A is highly expressed in placenta, lung and liver, less in kidney and pancreas, low in brain and skeletal muscle. Isoform LAMP-2B is detected in spleen, thymus, prostate, testis, small intestine, colon, skeletal muscle, brain, placenta, lung, kidney, ovary and pancreas and liver. Isoform LAMP-2C is detected in small intestine, colon, heart, brain, skeletal muscle, and at lower levels in kidney and placenta.

Post-translational modifications. O- and N-glycosylated; some of the 16 N-linked glycans are polylactosaminoglycans.

Disease relevance. Danon disease (DAND) [MIM:300257] DAND is a lysosomal glycogen storage disease characterized by the clinical triad of cardiomyopathy, vacuolar myopathy and intellectual disability. It is often associated with an accumulation of glycogen in muscle and lysosomes. The disease is caused by variants affecting the gene represented in this entry.

Induction. In peripheral blood B cells isoform LAMP-2A, LAMP-2B and LAMP-2C are up-regulated in response to treatments that stimulate immune responses via the Toll-like receptors TLR7 or TLR9.

Similarity. Belongs to the LAMP family.

Isoforms (3)

UniProt ID	Names	Canonical?
P13473-1	LAMP-2A	yes
P13473-2	LAMP-2B
P13473-3	LAMP-2C

RefSeq proteins (3): NP_001116078, NP_002285, NP_054701 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002000	Lysosome-assoc_membr_glycop	Family
IPR018134	LAMP_CS	Conserved_site
IPR048524	Lamp2-like_TM	Domain
IPR048528	Lamp2-like_luminal	Domain

Pfam: PF01299, PF21222

UniProt features (57 total): glycosylation site 26, sequence conflict 9, region of interest 5, disulfide bond 4, topological domain 2, splice variant 2, sequence variant 2, signal peptide 1, chain 1, compositionally biased region 1, transmembrane region 1, mutagenesis site 1, strand 1, helix 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
2MOF	SOLUTION NMR
2MOM	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P13473-F1	83.54	0.60

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 (4): 41–79, 153–189, 232–265, 331–368

Glycosylation sites (26): 32, 38, 49, 58, 75, 101, 123, 179, 195, 196, 200, 203, 204, 207, 209, 210, 211, 213, 229, 242 …

Mutagenesis-validated functional residues (1):

Position	Phenotype
401–404	impairs binding and subsequent lysosomal degradation of target proteins, such as gapdh.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-114608	Platelet degranulation
R-HSA-6798695	Neutrophil degranulation
R-HSA-9613829	Chaperone Mediated Autophagy
R-HSA-109582	Hemostasis
R-HSA-168249	Innate Immune System
R-HSA-168256	Immune System
R-HSA-76002	Platelet activation, signaling and aggregation
R-HSA-76005	Response to elevated platelet cytosolic Ca2+
R-HSA-9612973	Autophagy

MSigDB gene sets: 511 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEIN_CONTAINING_COMPLEX_ASSEMBLY, SHEPARD_BMYB_MORPHOLINO_UP, BORCZUK_MALIGNANT_MESOTHELIOMA_UP, HORIUCHI_WTAP_TARGETS_DN, REACTOME_INNATE_IMMUNE_SYSTEM, MORF_MBD4, GOBP_LYSOSOMAL_TRANSPORT, GOBP_VACUOLE_ORGANIZATION, GOBP_INTRACELLULAR_PROTEIN_TRANSPORT, GOBP_INFLAMMATORY_RESPONSE, GOCC_VACUOLAR_MEMBRANE, TGCACTT_MIR519C_MIR519B_MIR519A, GOCC_SECRETORY_GRANULE, REACTOME_PLATELET_ACTIVATION_SIGNALING_AND_AGGREGATION, SP3_Q3

GO Biological Process (18): protein targeting (GO:0006605), lysosomal lumen acidification (GO:0007042), cellular response to starvation (GO:0009267), protein import (GO:0017038), protein catabolic process (GO:0030163), negative regulation of protein-containing complex assembly (GO:0031333), regulation of protein stability (GO:0031647), muscle cell cellular homeostasis (GO:0046716), protein stabilization (GO:0050821), chaperone-mediated autophagy (GO:0061684), protein targeting to lysosome involved in chaperone-mediated autophagy (GO:0061740), autophagosome maturation (GO:0097352), positive regulation of ferroptosis (GO:0160020), negative regulation of NLRP3 inflammasome complex assembly (GO:1900226), lysosomal protein catabolic process (GO:1905146), autophagy (GO:0006914), lysosomal lumen pH elevation (GO:0035752), proton transmembrane transport (GO:1902600)

GO Molecular Function (6): ion channel inhibitor activity (GO:0008200), enzyme binding (GO:0019899), protein domain specific binding (GO:0019904), protein-macromolecule adaptor activity (GO:0030674), signaling adaptor activity (GO:0035591), protein binding (GO:0005515)

GO Cellular Component (22): autophagosome membrane (GO:0000421), obsolete extracellular space (GO:0005615), lysosome (GO:0005764), lysosomal membrane (GO:0005765), late endosome (GO:0005770), trans-Golgi network (GO:0005802), plasma membrane (GO:0005886), membrane (GO:0016020), phagocytic vesicle membrane (GO:0030670), platelet dense granule membrane (GO:0031088), late endosome membrane (GO:0031902), azurophil granule membrane (GO:0035577), lysosomal lumen (GO:0043202), autolysosome (GO:0044754), perinuclear region of cytoplasm (GO:0048471), chaperone-mediated autophagy translocation complex (GO:0061742), extracellular exosome (GO:0070062), ficolin-1-rich granule membrane (GO:0101003), endosome (GO:0005768), endosome membrane (GO:0010008), cytoplasmic vesicle (GO:0031410), membrane microdomain (GO:0098857)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Response to elevated platelet cytosolic Ca2+	1
Innate Immune System	1
Autophagy	1
Immune System	1
Hemostasis	1
Platelet activation, signaling and aggregation	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
lysosome	3
protein binding	3
secretory granule membrane	3
signaling receptor binding	2
protein-folding chaperone binding	2
endosome	2
cellular anatomical structure	2
lysosomal membrane	2
establishment of protein localization	1
vacuolar acidification	1
cellular response to nutrient levels	1
cellular response to stress	1
response to starvation	1
protein transport	1
macromolecule catabolic process	1
protein metabolic process	1
regulation of protein-containing complex assembly	1
negative regulation of cellular component organization	1
protein-containing complex assembly	1
regulation of biological quality	1
cellular homeostasis	1
regulation of protein stability	1
autophagy	1
protein catabolic process	1
protein carrier activity	1
protein targeting to lysosome	1
chaperone-mediated autophagy	1
protein targeting to vacuole involved in autophagy	1
macroautophagy	1
protein-containing complex disassembly	1
positive regulation of programmed cell death	1
ferroptosis	1
regulation of ferroptosis	1
negative regulation of protein-containing complex assembly	1
NLRP3 inflammasome complex assembly	1
negative regulation of inflammasome-mediated signaling pathway	1
regulation of NLRP3 inflammasome complex assembly	1
protein catabolic process in the vacuole	1
catabolic process	1
transmembrane transport	1

Protein interactions and networks

STRING

3114 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
LAMP2	CD63	P08962	986
LAMP2	LAMP1	P11279	904
LAMP2	ABCB9	Q9NP78	899
LAMP2	SQSTM1	Q13501	867
LAMP2	EEA1	Q15075	853
LAMP2	CTSD	P07339	839
LAMP2	FIG4	Q92562	820
LAMP2	PRKAG2	Q9UGJ0	817
LAMP2	BECN1	Q14457	794
LAMP2	RAB5A	P20339	789
LAMP2	HSPA4	P34932	787
LAMP2	MAP1LC3A	Q9H492	786
LAMP2	VAC14	Q08AM6	784
LAMP2	NAAA	Q02083	772
LAMP2	LAPTM5	Q13571	754

IntAct

55 interactions, top by confidence:

A	B	Type	Score
IFT27	IFT56	psi-mi:“MI:0914”(association)	0.690
SFXN5	CTSA	psi-mi:“MI:0914”(association)	0.640
LGALS1	PODXL	psi-mi:“MI:0914”(association)	0.530
TRUB2	HSPD1	psi-mi:“MI:0914”(association)	0.530
GTPBP8	HSPD1	psi-mi:“MI:0914”(association)	0.530
LAMP2	LRRK2	psi-mi:“MI:0403”(colocalization)	0.460
LRRK2	LAMP2	psi-mi:“MI:0915”(physical association)	0.460
LAMP2	WDR31	psi-mi:“MI:0915”(physical association)	0.400
LAMP2	RRAGB	psi-mi:“MI:0915”(physical association)	0.400
LAMP2	APLNR	psi-mi:“MI:0915”(physical association)	0.370
PIAS4	LAMP2	psi-mi:“MI:0915”(physical association)	0.370
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
JMJD4	SPTLC1	psi-mi:“MI:0914”(association)	0.350
TEX101	PSMD12	psi-mi:“MI:0914”(association)	0.350
TEX101	NDUFA4	psi-mi:“MI:0914”(association)	0.350
TEX101	GGT3P	psi-mi:“MI:0914”(association)	0.350
M		psi-mi:“MI:0914”(association)	0.350
TAGLN	LOC392647	psi-mi:“MI:0914”(association)	0.350
	VPS37C	psi-mi:“MI:0914”(association)	0.350
PLEKHM1	STX7	psi-mi:“MI:0914”(association)	0.350
	NPC1	psi-mi:“MI:0914”(association)	0.350
ATP6V1A		psi-mi:“MI:0914”(association)	0.350
	HLA-C	psi-mi:“MI:0914”(association)	0.350
Npc1	ESYT2	psi-mi:“MI:0914”(association)	0.350
CLDN2	AP2A1	psi-mi:“MI:0914”(association)	0.350
CANX	HLA-A	psi-mi:“MI:0914”(association)	0.350
LAMP2	MSN	psi-mi:“MI:0914”(association)	0.350
OTULIN	SULT1C2	psi-mi:“MI:0914”(association)	0.350

BioGRID (669): LAMP2 (Affinity Capture-MS), LAMP2 (Proximity Label-MS), LAMP2 (Affinity Capture-Western), BRF2 (Affinity Capture-MS), LAMP2 (Affinity Capture-MS), LAMP2 (Affinity Capture-MS), MTG2 (Affinity Capture-MS), CDC6 (Affinity Capture-MS), NEK6 (Affinity Capture-MS), STK39 (Affinity Capture-MS), TAMM41 (Affinity Capture-MS), CYP2S1 (Affinity Capture-MS), GUF1 (Affinity Capture-MS), HSPA12A (Affinity Capture-MS), HELLS (Affinity Capture-MS)

ESM2 similar proteins: A1L2K1, A4FV27, A4IGL3, A7E2Z9, A8WFR0, B0S5G3, L7VG99, O14525, O43556, O54715, O70258, O70367, O75829, O77049, O77770, O88823, P05300, P13473, P17046, P17047, P17404, P40682, P49130, Q15904, Q29S03, Q4R5B1, Q5PPI4, Q5R5V2, Q5RAP2, Q5VW38, Q61137, Q6AXF6, Q6Q3F5, Q6YAT4, Q6ZQE4, Q8BXN9, Q8NBN3, Q8VDA1, Q90617, Q9D387

Diamond homologs: P05300, P11279, P11438, P13473, P14562, P17046, P17047, P31996, P49129, P49130, Q05204, Q90617, P34810, Q8MJJ2, Q9UQV4, Q5XI99, Q7TST5

SIGNOR signaling

3 interactions.

A	Effect	B	Mechanism
FBXO27	“down-regulates quantity by destabilization”	LAMP2	binding
“Cullin 1-RBX1-Skp1”	“down-regulates quantity by destabilization”	LAMP2	polyubiquitination
LAMP2	“up-regulates activity”	“Chaperone-mediated autophagy”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	117
Likely pathogenic	29
Uncertain significance	296
Likely benign	224
Benign	63

Top pathogenic / likely-pathogenic (30)

Variant ID	HGVS	Classification
1012342	NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter)	Pathogenic
1029437	NM_002294.3(LAMP2):c.614_615del (p.Val205fs)	Pathogenic
1064624	NM_002294.3(LAMP2):c.928+3A>T	Pathogenic
1065183	NM_002294.3(LAMP2):c.668dup (p.Tyr223Ter)	Pathogenic
1072236	NC_000023.10:g.(?119565168)(119603034_?)del	Pathogenic
1074071	NM_002294.3(LAMP2):c.646G>T (p.Glu216Ter)	Pathogenic
1075078	NM_002294.3(LAMP2):c.929-197_1070del	Pathogenic
1220164	NM_002294.3(LAMP2):c.181del (p.Tyr61fs)	Pathogenic
1300025	NM_002294.3(LAMP2):c.864+4A>G	Pathogenic
1323186	NM_002294.3(LAMP2):c.64G>T (p.Gly22Ter)	Pathogenic
1323203	NM_002294.3(LAMP2):c.467T>G (p.Leu156Ter)	Pathogenic
1323222	NM_002294.3(LAMP2):c.183+2T>C	Pathogenic
1323223	NM_002294.3(LAMP2):c.327T>A (p.Tyr109Ter)	Pathogenic
1329242	NM_002294.3(LAMP2):c.107C>G (p.Ser36Ter)	Pathogenic
1369085	NM_002294.3(LAMP2):c.955del (p.Ser319fs)	Pathogenic
1398614	NM_002294.3(LAMP2):c.54C>A (p.Cys18Ter)	Pathogenic
1451509	NM_002294.3(LAMP2):c.1041del (p.Phe348fs)	Pathogenic
1452436	NM_002294.3(LAMP2):c.928G>C (p.Val310Leu)	Pathogenic
1459080	NM_002294.3(LAMP2):c.391del (p.Asp131fs)	Pathogenic
1514744	NM_002294.3(LAMP2):c.741+2T>A	Pathogenic
1523103	NM_002294.3(LAMP2):c.1A>C (p.Met1Leu)	Pathogenic
163812	NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter)	Pathogenic
163813	NM_002294.3(LAMP2):c.864+1G>T	Pathogenic
1676381	NM_002294.3(LAMP2):c.344C>A (p.Ser115Ter)	Pathogenic
1685922	NM_002294.3(LAMP2):c.436_440dup (p.Leu147fs)	Pathogenic
1698512	NC_000023.10:g.(?119560002)(119603205_?)del	Pathogenic
1734193	NM_002294.3(LAMP2):c.371_375del (p.Thr124fs)	Pathogenic
178999	NM_002294.3(LAMP2):c.1020del (p.Gly341fs)	Pathogenic
179062	NM_002294.3(LAMP2):c.121del (p.Cys41fs)	Pathogenic
179126	NM_002294.3(LAMP2):c.851_852del (p.Phe284fs)	Pathogenic

SpliceAI

1702 predictions. Top by Δscore:

Variant	Effect	Δscore
X:120441895:C:CC	acceptor_gain	1.0000
X:120446332:A:AC	donor_gain	1.0000
X:120446333:A:C	donor_gain	1.0000
X:120447837:ATAC:A	donor_gain	1.0000
X:120447839:A:C	donor_loss	1.0000
X:120447840:C:CG	donor_loss	1.0000
X:120447844:AT:A	donor_gain	1.0000
X:120447845:T:C	donor_gain	1.0000
X:120448022:AACT:A	acceptor_gain	1.0000
X:120448024:CT:C	acceptor_gain	1.0000
X:120448026:C:CC	acceptor_gain	1.0000
X:120448026:CTAAA:C	acceptor_loss	1.0000
X:120448027:T:C	acceptor_loss	1.0000
X:120448032:C:CT	acceptor_gain	1.0000
X:120448036:C:CT	acceptor_gain	1.0000
X:120448037:G:T	acceptor_gain	1.0000
X:120448966:TCA:T	donor_loss	1.0000
X:120448967:CA:C	donor_loss	1.0000
X:120448968:A:AC	donor_gain	1.0000
X:120448968:AC:A	donor_gain	1.0000
X:120448969:C:CC	donor_gain	1.0000
X:120448969:CC:C	donor_gain	1.0000
X:120449129:C:CA	acceptor_loss	1.0000
X:120449129:C:CC	acceptor_gain	1.0000
X:120449130:T:G	acceptor_loss	1.0000
X:120455351:GGTTA:G	donor_loss	1.0000
X:120455352:GTTAC:G	donor_loss	1.0000
X:120455353:TTACC:T	donor_loss	1.0000
X:120455354:TACCT:T	donor_loss	1.0000
X:120455355:A:T	donor_loss	1.0000

AlphaMissense

2689 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
X:120441831:C:G	C331S	0.998
X:120441832:A:T	C331S	0.998
X:120441832:A:G	C331R	0.997
X:120431452:G:C	C368W	0.996
X:120431453:C:G	C368S	0.996
X:120431453:C:T	C368Y	0.996
X:120431454:A:G	C368R	0.996
X:120431454:A:T	C368S	0.996
X:120441768:A:T	V352D	0.996
X:120441830:G:C	C331W	0.996
X:120447866:A:G	L239P	0.996
X:120441762:G:T	P354H	0.995
X:120441831:C:T	C331Y	0.995
X:120442645:A:C	F294L	0.995
X:120442645:A:T	F294L	0.995
X:120442647:A:G	F294L	0.995
X:120447860:A:G	L241P	0.995
X:120447863:T:G	Q240P	0.995
X:120441758:G:C	F355L	0.994
X:120441758:G:T	F355L	0.994
X:120441760:A:G	F355L	0.994
X:120441765:T:G	Q353P	0.994
X:120441774:A:G	L350P	0.994
X:120441831:C:A	C331F	0.994
X:120441838:A:C	Y329D	0.994
X:120442640:A:G	L296P	0.994
X:120447878:G:T	A235D	0.994
X:120447879:C:G	A235P	0.994
X:120431453:C:A	C368F	0.993
X:120441841:A:G	S328P	0.993

dbSNP variants (sampled 300 via entrez): RS1000213846 (X:120434429 A>G), RS1000269978 (X:120438417 A>G), RS1000312356 (X:120455277 A>C), RS1000438881 (X:120468204 G>C), RS1000528539 (X:120433129 C>T), RS1000605973 (X:120440637 T>C), RS1000679373 (X:120441042 C>T), RS1000817865 (X:120431789 G>A), RS1000877206 (X:120429436 G>A), RS1000903133 (X:120450573 A>G), RS1000919192 (X:120458359 A>G), RS1001044275 (X:120445990 T>C), RS1001337984 (X:120436567 G>A), RS1001394228 (X:120459228 T>C), RS1001570359 (X:120436772 T>C)

Disease associations

OMIM: gene MIM:309060 | disease phenotypes: MIM:300257, MIM:192600

GenCC curated gene-disease

Disease	Classification	Inheritance
Danon disease	Definitive	X-linked

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Danon disease	Definitive	XL

Mondo (6): Danon disease (MONDO:0010281), dilated cardiomyopathy (MONDO:0005021), cardiomyopathy (MONDO:0004994), hypertrophic cardiomyopathy (MONDO:0005045), familial hypertrophic cardiomyopathy (MONDO:0024573), intellectual disability (MONDO:0001071)

Orphanet (7): Danon disease (Orphanet:34587), Dilated cardiomyopathy (Orphanet:217604), Rare cardiomyopathy (Orphanet:167848), Rare hypertrophic cardiomyopathy (Orphanet:217569), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

37 total (30 of 37 shown, HPO-id order):

HPO	Term
HP:0000505	Visual impairment
HP:0001249	Intellectual disability
HP:0001263	Global developmental delay
HP:0001279	Syncope
HP:0001288	Gait disturbance
HP:0001324	Muscle weakness
HP:0001423	X-linked dominant inheritance
HP:0001635	Congestive heart failure
HP:0001639	Hypertrophic cardiomyopathy
HP:0001640	Cardiomegaly
HP:0001644	Dilated cardiomyopathy
HP:0001678	Atrioventricular block
HP:0001685	Myocardial fibrosis
HP:0001692	Atrial arrhythmia
HP:0001700	Myocardial necrosis
HP:0001716	Wolff-Parkinson-White syndrome
HP:0001761	Pes cavus
HP:0002375	Hypokinesia
HP:0002460	Distal muscle weakness
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003458	EMG: myopathic abnormalities
HP:0003546	Exercise intolerance
HP:0003621	Juvenile onset
HP:0003690	Limb muscle weakness
HP:0003700	Generalized amyotrophy
HP:0003701	Proximal muscle weakness
HP:0003710	Exercise-induced muscle cramps
HP:0004756	Ventricular tachycardia
HP:0006543	Cardiorespiratory arrest
HP:0007210	Lower limb amyotrophy

GWAS associations

0 associations (top):

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
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
D024741	Cardiomyopathy, Hypertrophic, Familial	C14.280.238.100.500; C14.280.484.048.750.070.160.500; C16.320.160
D052120	Glycogen Storage Disease Type IIb	C10.597.606.360.455.562; C14.280.238.458; C16.320.322.201; C16.320.565.202.449.510; C18.452.648.202.449.510
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5465542 (SINGLE PROTEIN)

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

ChEMBL bioactivities

4 potent at pChembl≥5 of 4 total, top 4 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
7.42	Kd	37.83	nM	CHEMBL3752910
7.42	ED50	37.83	nM	CHEMBL3752910
5.76	Kd	1718	nM	CHEMBL5653589
5.76	ED50	1718	nM	CHEMBL5653589

PubChem BioAssay actives

2 with measured affinity, of 5 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(1-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148636: Binding affinity to human LAMP2 incubated for 45 mins by Kinobead based pull down assay	kd	0.0378	uM
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2148636: Binding affinity to human LAMP2 incubated for 45 mins by Kinobead based pull down assay	kd	1.7184	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression	5
Benzo(a)pyrene	decreases expression, increases methylation, increases reaction, decreases reaction, increases expression	4
Tretinoin	increases expression, increases reaction	4
methylmercuric chloride	increases expression, affects cotreatment	3
bisphenol A	affects cotreatment, increases methylation, decreases expression	3
trichostatin A	increases expression, affects cotreatment	3
sodium arsenite	decreases expression, increases abundance, increases expression	3
mercuric bromide	affects cotreatment, increases expression	2
entinostat	increases expression, affects cotreatment	2
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	increases expression, affects cotreatment	2
Panobinostat	increases expression, affects cotreatment	2
Air Pollutants	affects expression, increases abundance, decreases expression	2
Atrazine	affects cotreatment, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Particulate Matter	decreases expression, increases abundance, affects cotreatment	2
aristolochic acid I	decreases expression	1
spautin-1	affects cotreatment, affects localization, affects reaction, increases transport	1
1-cyclopropyl-4-(4-((5-methyl-3-(3-(4-(trifluoromethoxy)phenyl)-1,2,4-oxadiazol-5-yl)-1H-pyrazol-1-yl)methyl)pyridin-2-yl)piperazine	decreases reaction, increases expression	1
bisphenol F	increases expression	1
dicrotophos	decreases expression	1
beauvericin	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
uranyl acetate	affects expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
dodecyldimethylamine oxide	increases expression	1
beta-lapachone	increases expression	1
arsenite	decreases expression, increases abundance	1
sulforaphane	increases expression	1
cobaltous chloride	increases expression	1
butyraldehyde	decreases expression	1

ChEMBL screening assays

2 unique, capped per target: 2 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5338453	Binding	Binding affinity to Lamp2 (unknown origin) assessed as fold change in protein upregulation at 200 uM preincubated for 2 hrs followed by pronase addition and measured after 30 mins by coomassie blue staining based SDS-PAGE gel analysis	Structurally Diverse Alkaloids with Anti-Renal-Fibrosis Activity from the Centipede Scolopendra subspinipes mutilans. — J Nat Prod

Cellosaurus cell lines

12 cell lines: 9 cancer cell line, 2 transformed cell line, 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A1NE	NJDTHi001-A	Induced pluripotent stem cell	Male
CVCL_B1B6	Abcam HEK293 LAMP2 KO	Transformed cell line	Female
CVCL_B1VJ	Abcam HeLa LAMP2 KO	Cancer cell line	Female
CVCL_B7XY	Abcam Raji LAMP2 KO	Cancer cell line	Male
CVCL_B9YN	Abcam THP-1 LAMP2 KO	Cancer cell line	Male
CVCL_C7AF	Abcam PC-3 LAMP2 KO	Cancer cell line	Male
CVCL_D1TF	Abcam U-87MG LAMP2 KO	Cancer cell line	Male
CVCL_D5EY	HeLa::TMEM192-3xHA LAMP2 KO	Cancer cell line	Female
CVCL_D9IC	Ubigene HEK293 LAMP2 KO	Transformed cell line	Female
CVCL_E1DT	Ubigene U2OS LAMP2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

165 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
NCT06092034	PHASE2	RECRUITING	A Gene Therapy Study of RP-A501 in Male Patients With Danon Disease
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
NCT03882437	PHASE1	UNKNOWN	Gene Therapy for Male Patients With Danon Disease (DD) Using RP-A501; AAV9.LAMP2B
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