PPCDC

Summary

PPCDC (phosphopantothenoylcysteine decarboxylase, HGNC:28107) is a protein-coding gene on chromosome 15q24.2, encoding Phosphopantothenoylcysteine decarboxylase (Q96CD2). Catalyzes the decarboxylation of the cysteine moiety of 4-phosphopantothenoylcysteine to form 4’-phosphopantotheine and this reaction forms part of the biosynthesis of coenzyme A. It is a selective cancer dependency (DepMap: 15.0% of cell lines).

Biosynthesis of coenzyme A (CoA) from pantothenic acid (vitamin B5) is an essential universal pathway in prokaryotes and eukaryotes. PPCDC (EC 4.1.1.36), one of the last enzymes in this pathway, converts phosphopantothenoylcysteine to 4-prime-phosphopantetheine (Daugherty et al., 2002 [PubMed 11923312]).

Source: NCBI Gene 60490 — RefSeq curated summary.

At a glance

• Gene–disease (curated): dilated cardiomyopathy (Limited, GenCC)
• GWAS associations: 17
• Clinical variants (ClinVar): 43 total
• Cancer dependency (DepMap): dependent in 15.0% of screened cell lines
• MANE Select transcript: NM_021823

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28107
Approved symbol	PPCDC
Name	phosphopantothenoylcysteine decarboxylase
Location	15q24.2
Locus type	gene with protein product
Status	Approved
Aliases	MDS018, FLJ14585
Ensembl gene	ENSG00000138621
Ensembl biotype	protein_coding
OMIM	609854
Entrez	60490

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 14 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined

ENST00000342932, ENST00000562095, ENST00000562192, ENST00000563298, ENST00000563393, ENST00000564923, ENST00000564953, ENST00000567336, ENST00000568207, ENST00000568649, ENST00000569562, ENST00000889947, ENST00000889948, ENST00000928390, ENST00000928391, ENST00000928392, ENST00000928393, ENST00000943486

RefSeq mRNA: 6 — MANE Select: NM_021823 NM_001301101, NM_001301102, NM_001301103, NM_001301104, NM_001301105, NM_021823

CCDS: CCDS10275, CCDS73759, CCDS73760, CCDS73761, CCDS76781

Canonical transcript exons

ENST00000342932 — 6 exons

Exon	Start	End
ENSE00001381226	75049150	75050726
ENSE00002598893	75023590	75023626
ENSE00003519225	75028247	75028453
ENSE00003599224	75048553	75048721
ENSE00003603188	75043441	75043536
ENSE00003645653	75044386	75044514

Expression profiles

Bgee: expression breadth ubiquitous, 224 present calls, max score 89.76.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.0146 / max 907.1011, expressed in 1632 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
147758	3.1351	1538
147761	1.9965	169
147760	1.7178	213
147757	0.5294	263
147763	0.5038	70
147762	0.1320	26

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
blood	UBERON:0000178	89.76	gold quality
granulocyte	CL:0000094	89.75	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.42	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.46	gold quality
lower esophagus mucosa	UBERON:0035834	87.52	gold quality
monocyte	CL:0000576	87.48	gold quality
mucosa of transverse colon	UBERON:0004991	87.38	gold quality
right adrenal gland	UBERON:0001233	87.36	gold quality
leukocyte	CL:0000738	87.14	gold quality
mononuclear cell	CL:0000842	87.14	gold quality
left adrenal gland	UBERON:0001234	86.80	gold quality
right adrenal gland cortex	UBERON:0035827	86.68	gold quality
left adrenal gland cortex	UBERON:0035825	86.49	gold quality
body of pancreas	UBERON:0001150	86.16	gold quality
esophagus mucosa	UBERON:0002469	85.50	gold quality
adrenal cortex	UBERON:0001235	85.05	gold quality
adrenal gland	UBERON:0002369	85.00	gold quality
spleen	UBERON:0002106	84.31	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	83.88	gold quality
pancreas	UBERON:0001264	82.95	gold quality
esophagus	UBERON:0001043	82.86	gold quality
tibial nerve	UBERON:0001323	82.85	gold quality
left coronary artery	UBERON:0001626	82.68	gold quality
body of stomach	UBERON:0001161	82.64	gold quality
hindlimb stylopod muscle	UBERON:0004252	82.62	gold quality
right lobe of liver	UBERON:0001114	82.59	gold quality
minor salivary gland	UBERON:0001830	82.44	gold quality
popliteal artery	UBERON:0002250	82.37	gold quality
tibial artery	UBERON:0007610	82.35	gold quality
right lobe of thyroid gland	UBERON:0001119	82.27	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	10.06

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

38 targeting PPCDC, 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-512-3P	99.97	67.35	1049
HSA-MIR-545-3P	99.95	70.74	2783
HSA-MIR-4496	99.88	68.89	2236
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-5693	99.24	66.67	1106
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-5100	99.11	67.52	1098
HSA-MIR-7160-5P	99.11	67.17	2207
HSA-MIR-4738-3P	98.98	67.98	1846
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-4716-5P	98.82	68.57	1168
HSA-MIR-330-5P	98.73	67.63	1788
HSA-MIR-6776-5P	98.54	67.43	1304
HSA-MIR-518C-5P	98.53	69.20	1640
HSA-MIR-135A-2-3P	98.40	66.74	442
HSA-MIR-135B-3P	98.40	67.35	426
HSA-MIR-6776-3P	98.38	66.34	655
HSA-MIR-10226	98.25	66.50	811
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-4799-3P	97.78	65.97	893
HSA-MIR-4314	97.50	67.30	1369
HSA-MIR-4720-5P	97.46	65.67	893
HSA-MIR-5588-5P	97.46	65.70	913
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-4726-5P	97.24	65.67	1299

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 15.0% of screened cell lines.

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	ppcdc	ENSDARG00000033020
mus_musculus	Ppcdc	ENSMUSG00000063849
rattus_norvegicus	Ppcdc	ENSRNOG00000053404
rattus_norvegicus		ENSRNOG00000084814
drosophila_melanogaster	Ppcdc	FBGN0050290
caenorhabditis_elegans		WBGENE00009138

Protein

Protein identifiers

Phosphopantothenoylcysteine decarboxylase — Q96CD2 (reviewed: Q96CD2)

Alternative names: CoaC

All UniProt accessions (7): Q96CD2, H3BPW5, H3BQB0, H3BRQ0, H3BSE3, H3BU34, H3BU63

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the decarboxylation of the cysteine moiety of 4-phosphopantothenoylcysteine to form 4’-phosphopantotheine and this reaction forms part of the biosynthesis of coenzyme A.

Subunit / interactions. Homotrimer.

Cofactor. Binds 1 FMN per subunit.

Pathway. Cofactor biosynthesis; coenzyme A biosynthesis; CoA from (R)-pantothenate: step 3/5.

Miscellaneous. The Met-1 codon is associated with a polymorphism (dbSNP:rs2304899) that replaces the initiation ATG codon by an ATA codon.

Similarity. Belongs to the HFCD (homooligomeric flavin containing Cys decarboxylase) superfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96CD2-1	1	yes
Q96CD2-2	2

RefSeq proteins (6): NP_001288030, NP_001288031, NP_001288032, NP_001288033, NP_001288034, NP_068595* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003382	Flavoprotein	Domain
IPR036551	Flavin_trans-like	Homologous_superfamily

Pfam: PF02441

Catalyzed reactions (Rhea), 1 shown:

• N-[(R)-4-phosphopantothenoyl]-L-cysteine + H(+) = (R)-4’-phosphopantetheine + CO2 (RHEA:16793)

UniProt features (24 total): helix 11, strand 4, binding site 3, chain 1, active site 1, splice variant 1, sequence variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
1QZU	X-RAY DIFFRACTION	2.91

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96CD2-F1	90.82	0.79

Functional residue map

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

Catalytic / active sites (1): 173 (proton donor)

Ligand- & substrate-binding residues (3): 59; 104–107; 140

Mutagenesis-validated functional residues (1):

Position	Phenotype
173	loss of activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-196783	Coenzyme A biosynthesis

MSigDB gene sets: 182 (showing top): GOBP_COENZYME_A_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, MARTINEZ_RB1_TARGETS_DN, GOBP_AMIDE_METABOLIC_PROCESS, GOBP_AMIDE_BIOSYNTHETIC_PROCESS, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_COENZYME_A_BIOSYNTHETIC_PROCESS, GRYDER_PAX3FOXO1_ENHANCERS_IN_TADS, GOBP_PURINE_CONTAINING_COMPOUND_METABOLIC_PROCESS, ACTWSNACTNY_UNKNOWN, GOMF_CARBOXY_LYASE_ACTIVITY

GO Biological Process (1): coenzyme A biosynthetic process (GO:0015937)

GO Molecular Function (7): phosphopantothenoylcysteine decarboxylase activity (GO:0004633), FMN binding (GO:0010181), identical protein binding (GO:0042802), catalytic activity (GO:0003824), protein binding (GO:0005515), lyase activity (GO:0016829), carboxy-lyase activity (GO:0016831)

GO Cellular Component (2): cytosol (GO:0005829), phosphopantothenoylcysteine decarboxylase complex (GO:0071513)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Vitamin B5 (pantothenate) metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoplasm	2
coenzyme A metabolic process	1
sulfur compound biosynthetic process	1
purine-containing compound biosynthetic process	1
nucleoside phosphate biosynthetic process	1
carboxy-lyase activity	1
ribonucleotide binding	1
anion binding	1
protein binding	1
molecular_function	1
binding	1
catalytic activity	1
carbon-carbon lyase activity	1
cellular anatomical structure	1
catalytic complex	1

Protein interactions and networks

STRING

1014 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PPCDC	COASY	Q13057	986
PPCDC	PPCS	Q9HAB8	957
PPCDC	PANK1	Q8TE04	763
PPCDC	PANK2	Q9BZ23	695
PPCDC	PANK3	Q9H999	686
PPCDC	PANK4	Q9NVE7	593
PPCDC	PPAN	Q9NQ55	577
PPCDC	KTI12	Q96EK9	491
PPCDC	A0A0B4J1V8	A0A0B4J1V8	473
PPCDC	DCAKD	Q8WVC6	463
PPCDC	SCAMP5	Q8TAC9	450
PPCDC	PGP	A6NDG6	438
PPCDC	HMG20A	Q9NP66	437
PPCDC	MMAB	Q96EY8	429
PPCDC	F8W876	F8W876	419

IntAct

72 interactions, top by confidence:

A	B	Type	Score
PPCDC	FOXR1	psi-mi:“MI:0915”(physical association)	0.780
FOXR1	PPCDC	psi-mi:“MI:0915”(physical association)	0.780
PPCDC	PPCDC	psi-mi:“MI:0915”(physical association)	0.750
PPCDC	PPCDC	psi-mi:“MI:0407”(direct interaction)	0.750
NTAQ1	PPCDC	psi-mi:“MI:0915”(physical association)	0.720
PPCDC	TXN2	psi-mi:“MI:0915”(physical association)	0.720
ZNF232	PPCDC	psi-mi:“MI:0915”(physical association)	0.720
PPCDC	NTAQ1	psi-mi:“MI:0915”(physical association)	0.720
PPCDC	ZNF232	psi-mi:“MI:0915”(physical association)	0.720
PPCDC	PPIG	psi-mi:“MI:0915”(physical association)	0.560
SREK1IP1	PPCDC	psi-mi:“MI:0915”(physical association)	0.560
PPIG	PPCDC	psi-mi:“MI:0915”(physical association)	0.560
PPCDC	GCD7	psi-mi:“MI:0915”(physical association)	0.560
TAE1	PPCDC	psi-mi:“MI:0915”(physical association)	0.560
VHS3	PPCDC	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (27): PPCDC (Two-hybrid), PPCDC (Two-hybrid), PPCDC (Two-hybrid), PPCDC (Two-hybrid), PPCDC (Two-hybrid), FOXR1 (Two-hybrid), SREK1IP1 (Two-hybrid), PPCDC (Two-hybrid), PPCDC (Two-hybrid), ZNF232 (Two-hybrid), PPCDC (Two-hybrid), PPCDC (Two-hybrid), PPCDC (Two-hybrid), PPCDC (Affinity Capture-MS), PPCDC (Two-hybrid)

ESM2 similar proteins: A0A6N3IN21, A2AI05, A4IFH5, D3ZDK7, O00764, O08557, O35331, O35678, O46560, O75452, O94760, O95671, P0DPI2, P10950, P11172, P13439, P24298, P56965, Q2T9S4, Q2TBT5, Q3KRC5, Q4JIJ2, Q5E9T8, Q5I0K3, Q5R514, Q5R7A2, Q5RFI8, Q6SKR2, Q7TSV4, Q86V88, Q8BZB2, Q8C1A3, Q8CHP8, Q8HZJ0, Q8K183, Q8N0X4, Q8R238, Q8R431, Q8R4N0, Q91XI1

Diamond homologs: A0A2I9, A0A498JQK2, A0QWT2, C6SZ50, C6TA59, O35033, O51752, P0ABQ0, P0ABQ1, P30197, P36024, P36076, P44953, P67734, P73881, P94063, P9WNZ0, P9WNZ1, Q08438, Q12600, Q54433, Q54Y51, Q58140, Q58323, Q5E8M6, Q5JF17, Q69K55, Q7MPS9, Q87T89, Q8BZB2, Q8DDX8, Q96CD2, Q9KVD1, Q9RC23, Q9SWE5, Q9UTI7, Q57566, Q9JW78, Q9JXP4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	PPCDC	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	29
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

873 predictions. Top by Δscore:

Variant	Effect	Δscore
15:75044383:CAGAT:C	acceptor_loss	1.0000
15:75044384:A:G	acceptor_loss	1.0000
15:75044385:GAT:G	acceptor_gain	1.0000
15:75044511:GCTT:G	donor_gain	1.0000
15:75044515:G:GG	donor_gain	1.0000
15:75023623:GCGG:G	donor_gain	0.9900
15:75023624:CGGGT:C	donor_loss	0.9900
15:75023625:GG:G	donor_gain	0.9900
15:75023625:GGGTG:G	donor_loss	0.9900
15:75023626:GG:G	donor_gain	0.9900
15:75023627:G:GG	donor_gain	0.9900
15:75023627:GT:G	donor_loss	0.9900
15:75023628:T:G	donor_loss	0.9900
15:75043432:T:A	acceptor_gain	0.9900
15:75044380:T:TA	acceptor_gain	0.9900
15:75044384:A:AG	acceptor_gain	0.9900
15:75044385:G:GA	acceptor_gain	0.9900
15:75044385:GATAT:G	acceptor_gain	0.9900
15:75044487:GGCC:G	donor_gain	0.9900
15:75044510:TGCTT:T	donor_gain	0.9900
15:75044511:GCTTG:G	donor_gain	0.9900
15:75044513:TT:T	donor_gain	0.9900
15:75048549:ACAGA:A	acceptor_loss	0.9900
15:75048550:C:G	acceptor_gain	0.9900
15:75048550:CA:C	acceptor_loss	0.9900
15:75048551:A:AG	acceptor_gain	0.9900
15:75048551:A:C	acceptor_loss	0.9900
15:75048552:G:GT	acceptor_gain	0.9900
15:75048552:GA:G	acceptor_gain	0.9900
15:75048552:GAC:G	acceptor_gain	0.9900

AlphaMissense

1339 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:75044502:T:G	C116W	0.994
15:75048571:T:A	W127R	0.994
15:75048571:T:C	W127R	0.994
15:75043457:T:A	V51D	0.993
15:75044501:G:A	C116Y	0.993
15:75048612:C:A	N140K	0.992
15:75048612:C:G	N140K	0.992
15:75043480:T:C	F59L	0.991
15:75043482:C:A	F59L	0.991
15:75043482:C:G	F59L	0.991
15:75048598:T:C	C136R	0.991
15:75048600:C:G	C136W	0.991
15:75044411:T:A	V86D	0.990
15:75044416:C:G	H88D	0.990
15:75048621:G:A	M143I	0.990
15:75048621:G:C	M143I	0.990
15:75048621:G:T	M143I	0.990
15:75028397:A:C	S27R	0.989
15:75028399:T:A	S27R	0.989
15:75028399:T:G	S27R	0.989
15:75043531:T:A	W76R	0.989
15:75043531:T:C	W76R	0.989
15:75043533:G:C	W76C	0.989
15:75043533:G:T	W76C	0.989
15:75044456:C:A	A101D	0.989
15:75028377:T:A	V20D	0.988
15:75028386:G:A	G23D	0.988
15:75044426:T:C	L91P	0.988
15:75044444:T:C	L97P	0.988
15:75028395:G:A	G26E	0.987

dbSNP variants (sampled 300 via entrez): RS1000109652 (15:75044061 G>A), RS1000121286 (15:75034467 A>G), RS1000292006 (15:75049508 C>T), RS1000366152 (15:75046301 C>G), RS1000380931 (15:75037719 T>A), RS1000405087 (15:75040666 T>A), RS1000432305 (15:75040925 A>C), RS1000513853 (15:75048353 T>C), RS1000578935 (15:75049750 C>T), RS1001211998 (15:75037009 A>G), RS1001670576 (15:75027764 T>C), RS1002182350 (15:75031695 C>T), RS1002193930 (15:75025014 C>G), RS1002262280 (15:75030789 G>A), RS1002271076 (15:75026049 A>C)

Disease associations

OMIM: gene MIM:609854 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
dilated cardiomyopathy	Limited	Autosomal recessive

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

Orphanet (0):

HPO phenotypes

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

GWAS associations

17 associations (top):

Study	Trait	p-value
GCST001032_1	Caffeine consumption	6.000000e-07
GCST002040_2	Blood trace element (Zn levels)	2.000000e-18
GCST003155_18	Systemic lupus erythematosus	6.000000e-15
GCST006979_936	Heel bone mineral density	1.000000e-12
GCST009153_1	Adverse response to chemotherapy (amenorrhea) in breast cancer	6.000000e-09
GCST010108_23	Coffee consumption (cups per day)	1.000000e-10
GCST010108_24	Coffee consumption (cups per day)	2.000000e-17
GCST010241_289	Apolipoprotein A1 levels	6.000000e-09
GCST012332_41	Multisite chronic pain	2.000000e-08
GCST012332_42	Multisite chronic pain	2.000000e-08
GCST90002388_154	Lymphocyte count	2.000000e-09
GCST90002391_150	Mean corpuscular hemoglobin concentration	1.000000e-15
GCST90002396_638	Mean reticulocyte volume	5.000000e-13
GCST90002398_286	Neutrophil count	1.000000e-12
GCST90002402_167	Platelet count	4.000000e-17
GCST90002406_389	Reticulocyte fraction of red cells	4.000000e-11
GCST90002407_595	White blood cell count	5.000000e-12

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0004330	coffee consumption
EFO:0009270	heel bone mineral density
EFO:0006782	cups of coffee per day measurement
EFO:0004614	apolipoprotein A 1 measurement
EFO:0010100	multisite chronic pain
EFO:0004587	lymphocyte count
EFO:0004528	mean corpuscular hemoglobin concentration
EFO:0010701	mean reticulocyte volume
EFO:0004833	neutrophil count
EFO:0004309	platelet count

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)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs147451859	Toxicity	3	docetaxel;FEC100;gemcitabine;trastuzumab;zoledronate	Amenorrhea

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs147451859	PPCDC	3	0.00	1	docetaxel;FEC100;gemcitabine;trastuzumab;zoledronate

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	2
Tetrachlorodibenzodioxin	increases expression	2
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
beta-lapachone	increases expression	1
arsenite	affects binding, increases reaction	1
cobaltous chloride	decreases expression	1
ferrous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	increases reaction, affects binding	1
abrine	increases expression	1
jinfukang	increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	increases expression	1
Coumestrol	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases methylation	1
Zinc	affects abundance	1
Cyclosporine	increases expression	1
Copper Sulfate	affects expression	1

Clinical trials (associated diseases)

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

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