PLEKHM2

Summary

PLEKHM2 (pleckstrin homology and RUN domain containing M2, HGNC:29131) is a protein-coding gene on chromosome 1p36.21, encoding Pleckstrin homology domain-containing family M member 2 (Q8IWE5). Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B.

This gene encodes a protein that binds the plus-end directed microtubule motor protein kinesin, together with the lysosomal GTPase Arl8, and is required for lysosomes to distribute away from the microtubule-organizing center. The encoded protein belongs to the multisubunit BLOC-one-related complex that regulates lysosome positioning. It binds a Salmonella effector protein called Salmonella induced filament A and is a critical host determinant in Salmonella pathogenesis. It has a domain architecture consisting of an N-terminal RPIP8, UNC-14, and NESCA (RUN) domain that binds kinesin-1 as well as the lysosomal GTPase Arl8, and a C-terminal pleckstrin homology domain that binds the Salmonella induced filament A effector protein. Naturally occurring mutations in this gene lead to abnormal localization of lysosomes, impaired autophagy flux and are associated with recessive dilated cardiomyopathy and left ventricular noncompaction.

Source: NCBI Gene 23207 — RefSeq curated summary.

At a glance

• Gene–disease (curated): dilated cardiomyopathy (Moderate, ClinGen)
• GWAS associations: 4
• Clinical variants (ClinVar): 976 total
• MANE Select transcript: NM_015164

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29131
Approved symbol	PLEKHM2
Name	pleckstrin homology and RUN domain containing M2
Location	1p36.21
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0842
Ensembl gene	ENSG00000116786
Ensembl biotype	protein_coding
OMIM	609613
Entrez	23207

Gene structure

Transcript identifiers

Ensembl transcripts: 14 — 9 protein_coding, 3 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000375793, ENST00000375799, ENST00000462455, ENST00000477849, ENST00000642363, ENST00000718275, ENST00000718276, ENST00000850891, ENST00000850912, ENST00000957353, ENST00000957354, ENST00000957355, ENST00000957356, ENST00000957357

RefSeq mRNA: 2 — MANE Select: NM_015164 NM_001410755, NM_015164

CCDS: CCDS44063, CCDS90868

Canonical transcript exons

ENST00000375799 — 20 exons

Exon	Start	End
ENSE00000750725	15716707	15716816
ENSE00000750765	15719734	15719920
ENSE00000750777	15721329	15721388
ENSE00001326988	15684320	15684618
ENSE00003489543	15716237	15716343
ENSE00003548292	15718538	15718625
ENSE00003645418	15717893	15717992
ENSE00004034589	15728669	15728733
ENSE00004034590	15725317	15725545
ENSE00004034591	15727014	15727832
ENSE00004034592	15728267	15728357
ENSE00004034593	15732350	15732529
ENSE00004034594	15729797	15729929
ENSE00004034595	15731889	15732048
ENSE00004034596	15729102	15729190
ENSE00004034597	15732612	15732728
ENSE00004034598	15730532	15730722
ENSE00004034600	15731192	15731257
ENSE00004034601	15728079	15728148
ENSE00004034602	15733797	15734769

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 98.14.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.9714 / max 513.9151, expressed in 1818 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
894	22.8549	1818
895	0.0660	8
900	0.0283	7
897	0.0111	5
896	0.0110	2

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
right frontal lobe	UBERON:0002810	98.14	gold quality
apex of heart	UBERON:0002098	97.33	gold quality
cingulate cortex	UBERON:0003027	97.10	gold quality
anterior cingulate cortex	UBERON:0009835	97.06	gold quality
gastrocnemius	UBERON:0001388	97.01	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.63	gold quality
prefrontal cortex	UBERON:0000451	96.54	gold quality
muscle of leg	UBERON:0001383	96.23	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.83	gold quality
stromal cell of endometrium	CL:0002255	95.67	gold quality
Brodmann (1909) area 9	UBERON:0013540	95.63	gold quality
cerebellar hemisphere	UBERON:0002245	95.43	gold quality
cerebellar cortex	UBERON:0002129	95.34	gold quality
amygdala	UBERON:0001876	95.31	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	95.13	gold quality
right atrium auricular region	UBERON:0006631	94.87	gold quality
neocortex	UBERON:0001950	94.78	gold quality
frontal cortex	UBERON:0001870	94.68	gold quality
lower esophagus mucosa	UBERON:0035834	94.67	gold quality
skin of leg	UBERON:0001511	94.64	gold quality
heart left ventricle	UBERON:0002084	94.63	gold quality
nucleus accumbens	UBERON:0001882	94.61	gold quality
upper lobe of left lung	UBERON:0008952	94.35	gold quality
caudate nucleus	UBERON:0001873	94.29	gold quality
cardiac ventricle	UBERON:0002082	94.25	gold quality
right coronary artery	UBERON:0001625	94.08	gold quality
ascending aorta	UBERON:0001496	94.02	gold quality
cerebellum	UBERON:0002037	94.02	gold quality
thoracic aorta	UBERON:0001515	93.98	gold quality
skin of abdomen	UBERON:0001416	93.93	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	16.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

20 targeting PLEKHM2, 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-4534	99.99	66.58	1907
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-182-3P	99.57	67.57	825
HSA-MIR-6722-3P	99.45	67.62	1919
HSA-MIR-410-3P	99.27	69.98	2457
HSA-MIR-1909-3P	99.03	66.56	1662
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-4297	98.77	66.95	2013
HSA-MIR-665	97.60	65.64	1781
HSA-MIR-4308	97.56	67.13	1385
HSA-MIR-1913	97.07	66.20	1417
HSA-MIR-597-3P	96.46	68.03	1035
HSA-MIR-152-5P	96.42	66.59	960
HSA-MIR-4632-3P	96.26	58.52	123
HSA-MIR-6734-5P	95.70	65.56	950
HSA-MIR-6846-3P	94.80	65.19	389
HSA-MIR-4268	94.45	64.09	819
HSA-MIR-4633-3P	93.85	63.56	534
HSA-MIR-6500-5P	93.85	63.64	522

Literature-anchored findings (GeneRIF, showing 5)

• A dynamic process of kinesin recruitment in Salmonella-infected cells is down-regulated by the SifA-mediated recruitment of SKIP on membranes [SKIP] (PMID:15905402)
• The association of PLEKHM2 mutation with dilated cardiomyopathy and left ventricular noncompaction supports the importance of autophagy for normal cardiac function. (PMID:26464484)
• BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. (PMID:36717601)
• Two germline mutations can serve as genetic susceptibility screening makers for a lung adenocarcinoma family. (PMID:36781503)
• Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction. (PMID:37349842)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	plekhm2	ENSDARG00000078850
mus_musculus	Plekhm2	ENSMUSG00000028917
rattus_norvegicus	Plekhm2	ENSRNOG00000012163
drosophila_melanogaster	CG6051	FBGN0039492
drosophila_melanogaster	CG31064	FBGN0051064
caenorhabditis_elegans		WBGENE00003084

Paralogs (13): RUFY3 (ENSG00000018189), ZFYVE16 (ENSG00000039319), SNX29 (ENSG00000048471), ZFYVE26 (ENSG00000072121), RUNDC3B (ENSG00000105784), RUNDC3A (ENSG00000108309), ZFYVE28 (ENSG00000159733), ZFYVE1 (ENSG00000165861), ZFYVE19 (ENSG00000166140), PLEKHF1 (ENSG00000166289), PLEKHF2 (ENSG00000175895), RUFY1 (ENSG00000176783), RUFY2 (ENSG00000204130)

Protein

Protein identifiers

Pleckstrin homology domain-containing family M member 2 — Q8IWE5 (reviewed: Q8IWE5)

Alternative names: Salmonella-induced filaments A and kinesin-interacting protein

All UniProt accessions (2): Q8IWE5, A0A2R8Y575

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in lysosomes movement and localization at the cell periphery acting as an effector of ARL8B. Required for ARL8B to exert its effects on lysosome location, recruits kinesin-1 to lysosomes and hence direct their movement toward microtubule plus ends. Binding to ARL8B provides a link from lysosomal membranes to plus-end-directed motility. Critical factor involved in NK cell-mediated cytotoxicity. Drives the polarization of cytolytic granules and microtubule-organizing centers (MTOCs) toward the immune synapse between effector NK lymphocytes and target cells. Required for maintenance of the Golgi apparatus organization. May play a role in membrane tubulation.

Subunit / interactions. Interacts with KLC2 (via TPR repeats). Interacts with KIF5B. Interacts with BORCS5. Interacts (via RUN domain) with ARL8B (GTP-bound form); PLEKHM1 and PLEKHM2 compete for interaction with ARL8B. Interacts with ARL8A. (Microbial infection) Interacts with the S.typhimurium sifA protein; required for S.typhimurium infection.

Subcellular location. Cytoplasm. Lysosome membrane.

Isoforms (2)

UniProt ID	Names	Canonical?
Q8IWE5-1	1	yes
Q8IWE5-2	2

RefSeq proteins (2): NP_001397684, NP_055979* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001849	PH_domain	Domain
IPR004012	Run_dom	Domain
IPR011993	PH-like_dom_sf	Homologous_superfamily
IPR037213	Run_dom_sf	Homologous_superfamily
IPR047327	RUN_PLEKHM2	Domain
IPR053015	PH_domain-containing_M2	Family
IPR057288	PH_PLEKHM2	Domain

Pfam: PF00169, PF02759, PF23142

UniProt features (34 total): strand 8, mutagenesis site 6, compositionally biased region 5, region of interest 5, domain 2, modified residue 2, chain 1, splice variant 1, sequence variant 1, sequence conflict 1, turn 1, helix 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
8JCA	X-RAY DIFFRACTION	1.65
3CXB	X-RAY DIFFRACTION	2.6
3ZFW	X-RAY DIFFRACTION	2.9
3HW2	X-RAY DIFFRACTION	3.3

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q8IWE5-F1	65.68	0.34

Functional residue map

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

Post-translational modifications (2): 1, 441

Mutagenesis-validated functional residues (6):

Position	Phenotype
207–208	no effect on lysosomal location; loss of interaction with kinesin-1 and movement of lysosomes to the periphery; when ass
236–237	no effect on lysosomal location; loss of interaction with kinesin-1 and movement of lysosomes to the periphery; when ass
828	loss of interaction with sifa.
830	loss of interaction with sifa.
831	alters interaction with sifa.
869	loss of interaction with sifa.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 83 (showing top): MODULE_255, GOCC_VACUOLAR_MEMBRANE, MODULE_317, GOBP_LEUKOCYTE_MEDIATED_CYTOTOXICITY, DARWICHE_PAPILLOMA_PROGRESSION_RISK, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, GOBP_LYMPHOCYTE_MEDIATED_IMMUNITY, GOBP_ENDOMEMBRANE_SYSTEM_ORGANIZATION, GOBP_NATURAL_KILLER_CELL_MEDIATED_IMMUNITY, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_IMMUNE_EFFECTOR_PROCESS, GOBP_CELL_KILLING, GOBP_ORGANELLE_LOCALIZATION, SCHLOSSER_SERUM_RESPONSE_UP

GO Biological Process (4): Golgi organization (GO:0007030), lysosome localization (GO:0032418), regulation of protein localization (GO:0032880), natural killer cell mediated cytotoxicity (GO:0042267)

GO Molecular Function (2): kinesin binding (GO:0019894), protein binding (GO:0005515)

GO Cellular Component (5): lysosomal membrane (GO:0005765), endosome membrane (GO:0010008), cytoplasm (GO:0005737), lysosome (GO:0005764), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
organelle organization	1
endomembrane system organization	1
vacuolar localization	1
intracellular protein localization	1
regulation of localization	1
leukocyte mediated cytotoxicity	1
natural killer cell mediated immunity	1
cytoskeletal protein binding	1
binding	1
lysosome	1
lytic vacuole membrane	1
endosome	1
cytoplasmic vesicle membrane	1
bounding membrane of organelle	1
intracellular anatomical structure	1
lytic vacuole	1

Protein interactions and networks

STRING

1438 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PLEKHM2	ARL5B	Q96KC2	953
PLEKHM2	ARL8B	Q9NVJ2	897
PLEKHM2	KLC1	Q07866	859
PLEKHM2	KIF5B	P33176	854
PLEKHM2	KLC4	Q9NSK0	769
PLEKHM2	KLC2	Q9H0B6	761
PLEKHM2	KLC3	Q6P597	741
PLEKHM2	ARL8A	Q96BM9	629
PLEKHM2	PLEK2	Q9NYT0	616
PLEKHM2	PLEK	P08567	589
PLEKHM2	RILP	Q96NA2	507
PLEKHM2	CDKN2A	P42771	505
PLEKHM2	FYCO1	Q9BQS8	481
PLEKHM2	TMEM82	A0PJX8	410
PLEKHM2	VPS39	Q96JC1	403

IntAct

18 interactions, top by confidence:

A	B	Type	Score
PLEKHM2	sifA	psi-mi:“MI:0915”(physical association)	0.610
PLEKHM2	sifA	psi-mi:“MI:0407”(direct interaction)	0.610
PLEKHM2	sifA	psi-mi:“MI:0407”(direct interaction)	0.580
RAB9A	sifA	psi-mi:“MI:0915”(physical association)	0.560
PLEKHM2	Klc2	psi-mi:“MI:0407”(direct interaction)	0.540
PLEKHM2	Klc2	psi-mi:“MI:0915”(physical association)	0.540
PLEKHM2	RAB9A	psi-mi:“MI:0915”(physical association)	0.400
RAB9A	PLEKHM2	psi-mi:“MI:0915”(physical association)	0.400
OFD1	CCDC14	psi-mi:“MI:0914”(association)	0.350
POLR2F	BDP1	psi-mi:“MI:0914”(association)	0.350
CBR1	DENND3	psi-mi:“MI:0914”(association)	0.350
sifA	sseJ	psi-mi:“MI:0403”(colocalization)	0.270
PLEKHM2	SLC39A1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (25): PLEKHM2 (Affinity Capture-MS), PLEKHM2 (Affinity Capture-MS), PLEKHM2 (Affinity Capture-MS), PLEKHM2 (Affinity Capture-MS), PLEKHM2 (Proximity Label-MS), PLEKHM2 (Proximity Label-MS), PLEKHM2 (Proximity Label-MS), PLEKHM2 (Proximity Label-MS), PLEKHM2 (Proximity Label-MS), PLEKHM2 (Proximity Label-MS), PLEKHM2 (Proximity Label-MS), ARL8B (Co-localization), PLEKHM2 (Affinity Capture-RNA), PLEKHM2 (Reconstituted Complex), PLEKHM2 (Co-fractionation)

ESM2 similar proteins: A0A140LI67, B5KFD7, D4A7V9, M0R4F8, O08774, O35827, O43187, O70167, O70173, O88866, O88900, O95398, O95704, P0C5Y8, Q0P5I2, Q13322, Q14449, Q4QQS0, Q5BIW4, Q5ICW4, Q5JV73, Q5PQS0, Q5R810, Q60760, Q68DX3, Q6IFT4, Q6IRN0, Q6P4K6, Q6REY9, Q6S5L8, Q6TXD4, Q7TSI1, Q80TQ5, Q80VA5, Q8BW88, Q8CFA1, Q8IWE5, Q8R1C9, Q8R2S1, Q8VCC8

Diamond homologs: B1AVY7, Q08DX0, Q08E29, Q0V9V7, Q4R7B9, Q559T8, Q5FVJ0, Q5NVC2, Q5PQS0, Q5R4V2, Q5R5R4, Q5R7A7, Q5U3W3, Q6PDC0, Q7L099, Q7TSI1, Q80TQ5, Q8BIJ7, Q8IUI4, Q8IWE5, Q8R4C2, Q8R4V0, Q8TEQ0, Q8WXA3, Q96BR1, Q96L93, Q96NL0, Q96T51, Q9D394, Q9D3S3, Q9ERE3, Q9VB25, Q9Y4G2, A5PJM7, A7E316, O01738, Q3TD16, Q4V8I4, Q6DDJ3, Q6DJB3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	503
Likely benign	361
Benign	80

Top pathogenic / likely-pathogenic (0)

SpliceAI

3525 predictions. Top by Δscore:

Variant	Effect	Δscore
1:15684615:GAAG:G	donor_gain	1.0000
1:15684619:G:C	donor_loss	1.0000
1:15716235:A:AG	acceptor_gain	1.0000
1:15716235:AGTT:A	acceptor_gain	1.0000
1:15716236:G:GA	acceptor_gain	1.0000
1:15716236:GT:G	acceptor_gain	1.0000
1:15716236:GTT:G	acceptor_gain	1.0000
1:15716236:GTTG:G	acceptor_gain	1.0000
1:15716236:GTTGC:G	acceptor_gain	1.0000
1:15716344:G:GG	donor_gain	1.0000
1:15716344:GTAAG:G	donor_loss	1.0000
1:15716345:T:G	donor_loss	1.0000
1:15716355:G:GT	donor_gain	1.0000
1:15716387:GCCA:G	donor_gain	1.0000
1:15716705:A:AG	acceptor_gain	1.0000
1:15716706:G:GG	acceptor_gain	1.0000
1:15716812:GCGCA:G	donor_gain	1.0000
1:15716814:GCA:G	donor_gain	1.0000
1:15716817:G:GG	donor_gain	1.0000
1:15717888:TGCA:T	acceptor_loss	1.0000
1:15717889:GCAG:G	acceptor_loss	1.0000
1:15717890:CAG:C	acceptor_loss	1.0000
1:15717891:A:AG	acceptor_gain	1.0000
1:15717892:G:GA	acceptor_gain	1.0000
1:15717892:GGCC:G	acceptor_gain	1.0000
1:15717975:GCA:G	donor_gain	1.0000
1:15717977:A:AG	donor_gain	1.0000
1:15717977:A:G	donor_gain	1.0000
1:15717988:GTCAA:G	donor_gain	1.0000
1:15717989:TC:T	donor_gain	1.0000

AlphaMissense

6677 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:15716334:T:C	L53P	1.000
1:15717901:T:A	W96R	1.000
1:15717901:T:C	W96R	1.000
1:15717944:T:C	L110P	1.000
1:15719887:T:A	W207R	1.000
1:15719887:T:C	W207R	1.000
1:15716310:T:C	L45P	0.999
1:15716322:T:C	L49P	0.999
1:15716325:A:T	D50V	0.999
1:15716331:C:A	A52D	0.999
1:15716709:T:C	L57P	0.999
1:15716732:T:A	W65R	0.999
1:15716732:T:C	W65R	0.999
1:15717899:C:A	A95D	0.999
1:15717903:G:C	W96C	0.999
1:15717903:G:T	W96C	0.999
1:15717905:T:C	L97P	0.999
1:15717911:T:C	L99P	0.999
1:15717914:C:A	A100D	0.999
1:15717917:T:C	L101P	0.999
1:15718549:T:A	V130D	0.999
1:15718567:T:C	L136P	0.999
1:15718597:T:C	L146P	0.999
1:15719889:G:C	W207C	0.999
1:15719889:G:T	W207C	0.999
1:15728099:T:C	L594P	0.999
1:15728105:T:C	L596P	0.999
1:15728322:T:C	L629P	0.999
1:15731981:T:C	L853P	0.999
1:15732013:T:A	W864R	0.999

dbSNP variants (sampled 300 via entrez): RS1000085449 (1:15728645 A>G), RS1000118439 (1:15728903 C>G), RS1000134953 (1:15695514 GTTTTTTGGGGT>G), RS1000170629 (1:15714414 A>T), RS1000203224 (1:15714115 T>A), RS1000220598 (1:15683416 C>T), RS1000270133 (1:15682264 C>A), RS1000288746 (1:15721252 A>C,G), RS1000301128 (1:15681974 G>A), RS1000373408 (1:15703584 TAATTATTAGAGACC>T), RS1000378984 (1:15708238 T>A), RS1000395880 (1:15717529 C>A,T), RS1000423741 (1:15717822 C>T), RS1000510668 (1:15689287 C>T), RS1000524129 (1:15705829 C>T)

Disease associations

OMIM: gene MIM:609613 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
dilated cardiomyopathy	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
dilated cardiomyopathy	Moderate	AR

Mondo (1): dilated cardiomyopathy (MONDO:0005021)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST004860_107	Alcoholic chronic pancreatitis	2.000000e-06
GCST004860_109	Alcoholic chronic pancreatitis	6.000000e-06
GCST004860_134	Alcoholic chronic pancreatitis	1.000000e-06
GCST007876_63	Estimated glomerular filtration rate	4.000000e-16

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D002311	Cardiomyopathy, Dilated	C14.280.195.160; C14.280.238.070; C16.320.488.750

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases methylation	2
Cyclosporine	decreases methylation, increases expression	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
sodium arsenite	increases expression	1
coumarin	decreases phosphorylation	1
4-aminophenylarsenoxide	decreases reaction, affects binding	1
beta-methylcholine	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	increases expression	1
CC-8490	increases expression	1
abrine	increases expression	1
Bortezomib	decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Vorinostat	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Caffeine	increases phosphorylation	1
Ethyl Methanesulfonate	increases expression	1
Gasoline	affects cotreatment, increases abundance, increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Polycyclic Aromatic Hydrocarbons	increases expression, affects cotreatment, increases abundance	1
Smoke	decreases expression	1
Tamoxifen	increases expression	1

Cellosaurus cell lines

8 cell lines: 6 induced pluripotent stem cell, 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_A4ZL	BGUi008-A	Induced pluripotent stem cell	Male
CVCL_A4ZM	BGUi009-A	Induced pluripotent stem cell	Male
CVCL_A4ZN	BGUi010-A	Induced pluripotent stem cell	Male
CVCL_A8XF	BGUi009-B	Induced pluripotent stem cell	Male
CVCL_A8XI	BGUi008-B	Induced pluripotent stem cell	Male
CVCL_A8XJ	BGUi010-B	Induced pluripotent stem cell	Male
CVCL_TE54	HAP1 PLEKHM2 (-) 1	Cancer cell line	Male
CVCL_TE55	HAP1 PLEKHM2 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00374465	PHASE4	UNKNOWN	Therapy With Verapamil or Carvedilol in Chronic Heart Failure
NCT01293903	PHASE4	COMPLETED	Study of Qiliqiangxin Capsule to Treat Dilated Cardiomyopathy
NCT01557140	PHASE4	COMPLETED	A Randomized Trial of Carvedilol in Chronic Chagas Cardiomyopathy
NCT01917149	PHASE4	COMPLETED	Supramaximal Titrated Inhibition of RAAS in Dilated Cardiomyopathy
NCT02115581	PHASE4	COMPLETED	Coenzyme Q10 Supplementation in Children With Idiopathic Dilated Cardiomyopathy
NCT06236022	PHASE4	RECRUITING	The Effects of Sirolimus in Patients With Dilated Cardiomyopathy Infected With Kaposi Sarcoma-associated Virus
NCT00333827	PHASE3	COMPLETED	Cell Therapy In Dilated Cardiomyopathy
NCT00505154	PHASE3	COMPLETED	Effect of Rosuvastatin on Left Ventricular Remodeling
NCT01223703	PHASE3	COMPLETED	PUFAs and Left Ventricular Function in Heart Failure
NCT01583114	PHASE3	TERMINATED	PREclinical Mutation CARriers From Families With DIlated Cardiomyopathy and ACE Inhibitors
NCT01914081	PHASE3	UNKNOWN	Resveratrol: A Potential Anti- Remodeling Agent in Heart Failure, From Bench to Bedside
NCT02989181	PHASE3	UNKNOWN	Continues Positive Airway Pressure Treatment for Patients With Dilated Cardiomyopathy and Obstructive Sleep Apnea
NCT03439514	PHASE3	TERMINATED	A Study of ARRY-371797 (PF-07265803) in Patients With Symptomatic Dilated Cardiomyopathy Due to a Lamin A/C Gene Mutation
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT05849766	PHASE3	COMPLETED	Effect of Dapagliflozin on Cardiac Structure, Function and Secondary Mitral Regurgitation in Patients with Left Ventricle Dysfunction
NCT06250257	PHASE3	RECRUITING	Bromocriptine in Dilated Cardiomyopathy Among Women of Reproductive Age
NCT00629018	PHASE2	COMPLETED	Safety and Efficacy Study of Stem Cell Transplantation to Treat Dilated Cardiomyopathy
NCT00629096	PHASE2	COMPLETED	Intracoronary Infusion of Autologous Bone Marrow Cells for Treatment of Idiopathic Dilated Cardiomyopathy
NCT00765518	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Cardiac Repair Cell [CRC] Treatment) in Patients With Heart Failure Due to Dilated Cardiomyopathy (IMPACT-DCM)
NCT00847964	PHASE2	COMPLETED	Safety and Feasibility of Algisyl-LVR™ as a Method of Left Ventricular Restoration in Patients With DCM Undergoing Open-heart Surgery
NCT01020968	PHASE2	COMPLETED	Use of Ixmyelocel-T (Formerly Catheter-based Cardiac Repair Cell [CRC]) Treatment in Patients With Heart Failure Due to Dilated Cardiomyopathy
NCT01302171	PHASE2	COMPLETED	Bone Marrow Derived Adult Stem Cells for Dilated Cardiomyopathy
NCT01350310	PHASE2	COMPLETED	Safety and Efficacy Study of Intramyocardial Stem Cell Therapy in Patients With Dilated Cardiomyopathy
NCT02133911	PHASE2	COMPLETED	A Pilot Trial of Ranolazine to Treat Patients With Dilated Cardiomyopathy
NCT03071653	PHASE2	SUSPENDED	Left Cardiac Sympathetic Denervation for Cardiomyopathy Feasibility Pilot Study
NCT03572660	PHASE2	ACTIVE_NOT_RECRUITING	Use of Bone Marrow Derived Stem Cell and G-CSF With Circulatory Assistance in the Treatment of DCM
NCT03775070	PHASE2	COMPLETED	Simvastatin Therapy in Patients With Dilated Cardiomyopathy.
NCT04405804	PHASE2	UNKNOWN	Early Administration of Ivabradine in Children With Heart Failure
NCT05410873	PHASE2	COMPLETED	Examining the Effects of Mitochondrial Oxidative Stress in DCM
NCT06632834	PHASE2	RECRUITING	Outcome-targeted Therapy: Principle and Outcome Evaluation: Clinical Study and Phenotype-genotype Correlation
NCT00585546	PHASE1	TERMINATED	Harefield Recovery Protocol Study for Patients With Refractory Chronic Heart Failure
NCT02293603	PHASE1	UNKNOWN	Dilated cardiomYopathy iNtervention With Allogeneic MyocardIally-regenerative Cells (DYNAMIC)
NCT03062956	PHASE1	COMPLETED	A Single Ascending Dose Study Assessing the Safety, Tolerability, PK and PD of MYK-491
NCT03129568	PHASE1	COMPLETED	Transcoronary Infusion of Cardiac Progenitor Cells in Pediatric Dilated Cardiomyopathy
NCT04982081	PHASE1	UNKNOWN	Treating Congestive HF With hiPSC-CMs Through Endocardial Injection
NCT06381466	PHASE1	TERMINATED	A Study to Investigate Safety, Tolerability, and Pharmacokinetics of Oral AZD0233 Compared With Placebo in Healthy Adult Participants.
NCT06464588	PHASE1	RECRUITING	A Phase 1 Open-Label Study of the Safety of Intravenous Allogeneic Neonatal Mesenchymal Cells (nMSCs) in Young Adult (1A) and Pediatric (1B) Patients With Dilated Cardiomyopathy (DCM)
NCT06902896	PHASE1	COMPLETED	Safety and Efficacy of FAP iCDC in End-stage Dilated Cardiomyopathy
NCT07137338	PHASE1	RECRUITING	A Phase 1 AAV Gene Therapy Trial Evaluating Safety and Preliminary Efficacy of RP-A701 in Subjects With BAG3 Dilated Cardiomyopathy
NCT07241104	PHASE1	RECRUITING	A Study of AZD4063 in PLN R14del Dilated Cardiomyopathy