MYZAP

Summary

MYZAP (myocardial zonula adherens protein, HGNC:43444) is a protein-coding gene on chromosome 15q21.3, encoding Myocardial zonula adherens protein (P0CAP1). Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF.

This gene encodes a protein that is abundantly expressed in cardiac tissue. The encoded protein localizes to intercalated discs in cardiomyocytes and functions as an activator of Rho-dependent serum-response factor signaling. Alternative splicing results in multiple transcript variants. Readthrough transcription also exists between this gene and the neighboring downstream gene POLR2M (polymerase (RNA) II (DNA directed) polypeptide M) and is represented with GeneID: 145781.

Source: NCBI Gene 100820829 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cardiomyopathy, dilated, 2K (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 2
• Clinical variants (ClinVar): 162 total — 4 pathogenic, 4 likely-pathogenic
• Phenotypes (HPO): 14
• MANE Select transcript: NM_001018100

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:43444
Approved symbol	MYZAP
Name	myocardial zonula adherens protein
Location	15q21.3
Locus type	gene with protein product
Status	Approved
Aliases	MYOZAP, Gup, Gup1, GCOM1
Ensembl gene	ENSG00000263155
Ensembl biotype	protein_coding
OMIM	614071
Entrez	100820829

Gene structure

Transcript identifiers

Ensembl transcripts: 26 — 26 protein_coding

ENST00000267853, ENST00000380565, ENST00000461709, ENST00000569089, ENST00000649429, ENST00000854757, ENST00000854758, ENST00000854759, ENST00000854760, ENST00000854761, ENST00000854762, ENST00000854763, ENST00000854764, ENST00000854765, ENST00000941199, ENST00000941200, ENST00000941201, ENST00000941202, ENST00000941203, ENST00000941204, ENST00000941205, ENST00000941206, ENST00000941207, ENST00000941208, ENST00000941209, ENST00000941210

RefSeq mRNA: 2 — MANE Select: NM_001018100 NM_001018100, NM_152451

CCDS: CCDS10162, CCDS42044

Canonical transcript exons

ENST00000267853 — 13 exons

Exon	Start	End
ENSE00001893499	57591904	57592109
ENSE00001927173	57684402	57685364
ENSE00003458571	57621608	57621700
ENSE00003459221	57625779	57625892
ENSE00003477784	57637695	57637774
ENSE00003554932	57629702	57629854
ENSE00003556828	57674968	57675068
ENSE00003597166	57604269	57604355
ENSE00003653587	57661450	57661533
ENSE00003654483	57633613	57633741
ENSE00003656586	57618033	57618188
ENSE00003672505	57632434	57632559
ENSE00003687379	57639440	57639545

Expression profiles

Bgee: expression breadth ubiquitous, 227 present calls, max score 99.91.

FANTOM5 (CAGE): breadth broad, TPM avg 2.6548 / max 348.0237, expressed in 427 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
146850	2.5501	620
146851	2.4549	400
146856	0.1654	65
146855	0.0218	11
146854	0.0127	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left ventricle myocardium	UBERON:0006566	99.91	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.86	gold quality
myocardium	UBERON:0002349	99.61	gold quality
apex of heart	UBERON:0002098	99.22	gold quality
heart right ventricle	UBERON:0002080	99.19	gold quality
cardiac atrium	UBERON:0002081	99.00	gold quality
right atrium auricular region	UBERON:0006631	98.95	gold quality
cardiac ventricle	UBERON:0002082	98.85	gold quality
heart left ventricle	UBERON:0002084	98.84	gold quality
pancreatic ductal cell	CL:0002079	98.09	gold quality
vena cava	UBERON:0004087	97.90	gold quality
right lung	UBERON:0002167	95.97	gold quality
heart	UBERON:0000948	95.75	gold quality
lower esophagus mucosa	UBERON:0035834	95.35	gold quality
lower esophagus	UBERON:0013473	95.05	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.04	gold quality
left adrenal gland cortex	UBERON:0035825	94.30	gold quality
left adrenal gland	UBERON:0001234	94.13	gold quality
right adrenal gland cortex	UBERON:0035827	93.42	gold quality
right adrenal gland	UBERON:0001233	93.38	gold quality
ileal mucosa	UBERON:0000331	93.23	gold quality
adrenal cortex	UBERON:0001235	93.18	gold quality
esophagus squamous epithelium	UBERON:0006920	93.16	gold quality
adrenal gland	UBERON:0002369	92.82	gold quality
esophagus	UBERON:0001043	91.89	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.49	gold quality
urinary bladder	UBERON:0001255	90.88	gold quality
adipose tissue	UBERON:0001013	89.98	gold quality
parotid gland	UBERON:0001831	89.44	gold quality
esophagus mucosa	UBERON:0002469	89.29	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-112	yes	10.40
E-ANND-3	yes	7.36

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

65 targeting MYZAP, 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-3163	100.00	77.23	8605
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-3910	99.95	71.13	2227
HSA-MIR-3912-5P	99.95	66.11	925
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-4753-3P	99.90	71.03	3786
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-3714	99.71	70.74	2671
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-6733-3P	99.54	67.80	1281
HSA-MIR-3609	99.52	69.89	2587
HSA-MIR-548AH-5P	99.52	69.73	2626

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	myzap	ENSDARG00000075017
mus_musculus	Myzap	ENSMUSG00000041361
rattus_norvegicus	Myzap	ENSRNOG00000071258

Paralogs (3): TUFT1 (ENSG00000143367), CCDC68 (ENSG00000166510), POLR2M (ENSG00000255529)

Protein

Protein identifiers

Myocardial zonula adherens protein — P0CAP1 (reviewed: P0CAP1)

Alternative names: GRINL1A upstream protein

All UniProt accessions (3): P0CAP1, H0YCD3, H3BTD5

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in cellular signaling via Rho-related GTP-binding proteins and subsequent activation of transcription factor SRF. Targets TJP1 to cell junctions. In cortical neurons, may play a role in glutaminergic signal transduction through interaction with the NMDA receptor subunit GRIN1.

Subunit / interactions. Interacts with DSP, MPRIP and TJP1/ZO1. Interaction with MPRIP inhibits the activation of transcription factor SRF. Interacts with GRIN1. Interacts with DYNLL1.

Subcellular location. Cytoplasm. Cytoskeleton. Cell membrane. Myofibril. Sarcomere. I band. Z line. Cell junction.

Tissue specificity. Detected in heart, liver, skeletal muscle, placenta, small intestine, lung, prostate and testis. Expressed in arrector pili muscle (at protein level).

Disease relevance. Cardiomyopathy, dilated, 2K (CMD2K) [MIM:620894] A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2K is an autosomal recessive form characterized by predominantly left ventricular involvement, although patients with biventricular disease have been observed. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. The adjacent MYZAP and POLR2M genes are part of a complex transcription unit. The respective transcripts derive from different promoters and are alternatively spliced. In human, some transcripts of the upstream promoter of MYZAP use exons of the downstream POLR2M gene. Based on a naturally occurring readthrough transcript which produces a MYZAP-POLR2M fusion protein.

Similarity. Belongs to the MYZAP family.

Isoforms (11)

UniProt ID	Names	Canonical?
P0CAP1-1	1, Gcom8, Gup1	yes
P0CAP1-2	2, Gcom2
P0CAP1-3	3, Gcom13
P0CAP1-4	4, Gcom9, Gup2
P0CAP1-5	5, Gcom10
P0CAP1-6	6, Gcom3
P0CAP1-7	7, Gcom4
P0CAP1-8	8, Gcom5
P0CAP1-9	9, Gcom6
P0CAP1-10	10, Gcom11
P0CAP1-11	11, Gcom1, GRINL1A complex locus protein 1

RefSeq proteins (2): NP_001018110, NP_689664 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR051375	Tuftelin_GRINL1A/MYZAP/CCD68	Family

UniProt features (29 total): splice variant 10, sequence variant 7, mutagenesis site 3, coiled-coil region 2, signal peptide 1, chain 1, region of interest 1, sequence conflict 1, strand 1, short sequence motif 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2KXS	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0CAP1-F1	77.90	0.52

Functional residue map

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

Mutagenesis-validated functional residues (3):

Position	Phenotype
436	no effect on dynll1-binding; when associated with g-448.
448	no effect on dynll1-binding; when associated with g-436.
450	no effect on dynll1-binding.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 205 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOCC_RNA_POLYMERASE_COMPLEX, CUI_TCF21_TARGETS_2_DN, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_CDC25_DN, GOCC_I_BAND, GOCC_TRANSFERASE_COMPLEX_TRANSFERRING_PHOSPHORUS_CONTAINING_GROUPS, GOCC_CYTOPLASMIC_SIDE_OF_MEMBRANE, GOCC_TRANSFERASE_COMPLEX, GOCC_SIDE_OF_MEMBRANE, GOCC_ANCHORING_JUNCTION, GOCC_RNA_POLYMERASE_II_CORE_COMPLEX, MOREAUX_MULTIPLE_MYELOMA_BY_TACI_UP, DODD_NASOPHARYNGEAL_CARCINOMA_DN, CHEN_METABOLIC_SYNDROM_NETWORK, LIU_PROSTATE_CANCER_DN

GO Biological Process (1): intracellular signal transduction (GO:0035556)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (10): RNA polymerase II, core complex (GO:0005665), cytoplasmic side of plasma membrane (GO:0009898), Z disc (GO:0030018), cortical actin cytoskeleton (GO:0030864), I band (GO:0031674), anchoring junction (GO:0070161), cytoplasm (GO:0005737), cytoskeleton (GO:0005856), plasma membrane (GO:0005886), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
intracellular anatomical structure	2
signal transduction	1
binding	1
RNA polymerase II, holoenzyme	1
nuclear DNA-directed RNA polymerase complex	1
plasma membrane	1
cytoplasmic side of membrane	1
I band	1
actin cytoskeleton	1
cortical cytoskeleton	1
sarcomere	1
cell junction	1
intracellular membraneless organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

384 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYZAP	POLR2M	P0CAP2	819
MYZAP	STRN	O43815	571
MYZAP	PLEC	Q15149	551
MYZAP	DSP	P15924	459
MYZAP	TJP1	Q07157	439
MYZAP	TCP11L1	Q9NUJ3	430
MYZAP	PKP2	Q99959	414
MYZAP	CTNNB1	P35222	407
MYZAP	RND1	Q92730	388
MYZAP	CXorf49C	A0A1B0GWI6	368
MYZAP	BTF3L4	Q96K17	368
MYZAP	SRF	P11831	344
MYZAP	CDH1	P12830	339
MYZAP	CRLF3	Q8IUI8	327
MYZAP	CCDC192	P0DO97	322

IntAct

73 interactions, top by confidence:

A	B	Type	Score
POLR2E	POLR3A	psi-mi:“MI:0914”(association)	0.870
POLR2G	POLR2D	psi-mi:“MI:0914”(association)	0.840
POLR2J	POLR1C	psi-mi:“MI:0914”(association)	0.830
POLR2C	POLR2D	psi-mi:“MI:0914”(association)	0.730
MED28	MED19	psi-mi:“MI:0914”(association)	0.730
RPRD1B	RECQL5	psi-mi:“MI:0914”(association)	0.730
POLR2J	POLR2D	psi-mi:“MI:0914”(association)	0.730
RPRD1B	POLR2D	psi-mi:“MI:0914”(association)	0.730
POLR2L	RCCD1	psi-mi:“MI:0914”(association)	0.640
POLR2F	POLR3A	psi-mi:“MI:0914”(association)	0.640
POLR2D	RECQL5	psi-mi:“MI:0914”(association)	0.640
POLR2L	POLR3A	psi-mi:“MI:0914”(association)	0.640
MYZAP	DYNLL1	psi-mi:“MI:0915”(physical association)	0.640
DYNLL1	MYZAP	psi-mi:“MI:0407”(direct interaction)	0.640
MYZAP	DYNLL1	psi-mi:“MI:0407”(direct interaction)	0.640
POLR2J	SUPT5H	psi-mi:“MI:0914”(association)	0.530
CPNE2	HIP1	psi-mi:“MI:0914”(association)	0.530
GPN3	POLR3A	psi-mi:“MI:0914”(association)	0.530
PIH1D1	POLR3A	psi-mi:“MI:0914”(association)	0.530
ASB6	POLR2D	psi-mi:“MI:0914”(association)	0.530
DXO	RECQL5	psi-mi:“MI:0914”(association)	0.530

BioGRID (241): GCOM1 (Affinity Capture-RNA), POLR2M (Affinity Capture-MS), POLR2M (Affinity Capture-MS), POLR2M (Affinity Capture-MS), POLR2G (Affinity Capture-MS), RPAP1 (Affinity Capture-MS), RPAP2 (Affinity Capture-MS), USP47 (Affinity Capture-MS), POLR2A (Affinity Capture-MS), POLR2D (Affinity Capture-MS), RPRD1A (Affinity Capture-MS), AMD1 (Affinity Capture-MS), RECQL5 (Affinity Capture-MS), POLR2B (Affinity Capture-MS), INPPL1 (Affinity Capture-MS)

ESM2 similar proteins: A0JMK8, A2AIV8, A3KNA5, A6QR54, A9QT41, B2RZ86, B9V5F5, F7DP49, O88522, P0CAP1, P0CF95, P0DO97, Q08DR9, Q0IHN7, Q0V9T6, Q19UN5, Q3KR99, Q3SWS9, Q3UIJ9, Q4V7C8, Q5BIX7, Q5EB94, Q5HZK9, Q5R923, Q5VZ66, Q6DD09, Q6DIX6, Q6GLX3, Q6NRW2, Q6TMG5, Q6ZU80, Q861Q8, Q8BI22, Q8BT07, Q8BVL9, Q8CIS0, Q8K3K8, Q8R5M4, Q923A2, Q95KA2

Diamond homologs: A9UM82, P0CAP1, Q3UIJ9, Q5EB94

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 72 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
FGFR2 mutant receptor activation	8	132.4×	4e-14
Signaling by FGFR2 IIIa TM	8	104.5×	1e-13
Abortive elongation of HIV-1 transcript in the absence of Tat	9	97.2×	3e-14
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	9	79.8×	7e-14
RNA Pol II CTD phosphorylation and interaction with CE	9	79.8×	7e-14
MicroRNA (miRNA) biogenesis	8	79.4×	9e-13
Activation of HOX genes during differentiation	8	76.4×	1e-12
mRNA Capping	9	74.5×	1e-13

GO biological processes:

GO term	Partners	Fold	FDR
transcription by RNA polymerase II	10	10.1×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	4
Uncertain significance	140
Likely benign	8
Benign	6

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
3252113	NM_001018100.5(MYZAP):c.388C>T (p.Arg130Ter)	Pathogenic
3252114	NM_001018100.5(MYZAP):c.933+1G>A	Pathogenic
3252115	NM_001018100.5(MYZAP):c.1150A>T (p.Lys384Ter)	Pathogenic
3252117	NM_001018100.5(MYZAP):c.349C>T (p.Arg117Ter)	Pathogenic
4687890	NM_001018100.5(MYZAP):c.779del (p.His260fs)	Likely pathogenic
4687891	NM_001018100.5(MYZAP):c.1128dup (p.Leu377fs)	Likely pathogenic
4849368	NM_001018100.5(MYZAP):c.1258G>T (p.Glu420Ter)	Likely pathogenic
523392	NM_001018100.5(MYZAP):c.236C>A (p.Ser79Ter)	Likely pathogenic

SpliceAI

2598 predictions. Top by Δscore:

Variant	Effect	Δscore
15:57592105:GGAGG:G	donor_gain	1.0000
15:57592106:GAGG:G	donor_gain	1.0000
15:57592106:GAGGG:G	donor_gain	1.0000
15:57592107:AGG:A	donor_gain	1.0000
15:57592108:GG:G	donor_gain	1.0000
15:57592108:GGG:G	donor_gain	1.0000
15:57592109:GG:G	donor_gain	1.0000
15:57592110:G:GA	donor_loss	1.0000
15:57592110:G:GG	donor_gain	1.0000
15:57604264:TCTA:T	acceptor_loss	1.0000
15:57604265:CTA:C	acceptor_loss	1.0000
15:57604266:TA:T	acceptor_loss	1.0000
15:57604267:A:AC	acceptor_loss	1.0000
15:57604267:A:AG	acceptor_gain	1.0000
15:57604267:AG:A	acceptor_gain	1.0000
15:57604268:G:A	acceptor_loss	1.0000
15:57604268:G:GC	acceptor_gain	1.0000
15:57604268:G:GG	acceptor_gain	1.0000
15:57604268:GG:G	acceptor_gain	1.0000
15:57604268:GGC:G	acceptor_gain	1.0000
15:57604268:GGCA:G	acceptor_gain	1.0000
15:57604268:GGCAA:G	acceptor_gain	1.0000
15:57604352:GCAG:G	donor_gain	1.0000
15:57604353:CAG:C	donor_loss	1.0000
15:57604354:AGG:A	donor_loss	1.0000
15:57604355:GG:G	donor_loss	1.0000
15:57604356:GTAAG:G	donor_loss	1.0000
15:57604357:T:G	donor_loss	1.0000
15:57618031:A:AG	acceptor_gain	1.0000
15:57618032:G:GA	acceptor_gain	1.0000

AlphaMissense

3065 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:57639493:T:C	L356P	0.998
15:57661502:T:C	L391P	0.998
15:57639481:G:C	R352P	0.996
15:57618144:T:A	W92R	0.995
15:57618144:T:C	W92R	0.995
15:57637699:G:C	R313P	0.994
15:57674978:T:C	L405P	0.994
15:57637708:T:C	L316P	0.993
15:57633722:T:C	L305P	0.991
15:57637720:T:C	L320P	0.991
15:57639472:T:C	L349P	0.991
15:57618160:T:C	L97P	0.990
15:57618146:G:C	W92C	0.989
15:57618146:G:T	W92C	0.989
15:57633649:G:C	A281P	0.989
15:57632452:G:C	A233P	0.986
15:57632458:G:C	A235P	0.986
15:57633713:T:C	L302P	0.986
15:57618091:G:A	G74D	0.984
15:57632471:G:C	R239P	0.984
15:57618169:A:T	E100V	0.983
15:57618085:T:A	V72D	0.982
15:57639517:A:C	Q364P	0.982
15:57661493:T:A	I388K	0.982
15:57621613:A:C	R108S	0.981
15:57621613:A:T	R108S	0.981
15:57639489:C:G	H355D	0.981
15:57621621:T:C	L111S	0.980
15:57639475:G:C	R350P	0.980
15:57632489:T:C	L245P	0.979

dbSNP variants (sampled 300 via entrez): RS1000032553 (15:57643702 A>G), RS1000038178 (15:57663853 T>C), RS1000072204 (15:57606881 T>C,G), RS1000100693 (15:57626855 G>A), RS1000142281 (15:57640836 C>T), RS1000164108 (15:57592601 G>A,C,T), RS1000195069 (15:57640673 A>G), RS1000217606 (15:57592838 C>T), RS1000269623 (15:57617135 C>T), RS1000283382 (15:57684425 T>C), RS1000346144 (15:57645875 G>A,T), RS1000387656 (15:57658027 G>A), RS1000440548 (15:57652047 T>A), RS1000528062 (15:57607230 C>A), RS1000535451 (15:57591848 C>A,G)

Disease associations

OMIM: gene MIM:614071 | disease phenotypes: MIM:620894

GenCC curated gene-disease

Disease	Classification	Inheritance
cardiomyopathy, dilated, 2K	Strong	Autosomal recessive
dilated cardiomyopathy	Moderate	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
cardiomyopathy, dilated, 2K	Moderate	AR

Mondo (2): cardiomyopathy, dilated, 2K (MONDO:0971175), dilated cardiomyopathy (MONDO:0005021)

Orphanet (1): Dilated cardiomyopathy (Orphanet:217604)

HPO phenotypes

14 total (14 of 14 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001635	Congestive heart failure
HP:0001644	Dilated cardiomyopathy
HP:0001685	Myocardial fibrosis
HP:0001962	Palpitations
HP:0002094	Dyspnea
HP:0003621	Juvenile onset
HP:0004756	Ventricular tachycardia
HP:0006682	Premature ventricular contraction
HP:0011462	Young adult onset
HP:0012663	Mildly reduced left ventricular ejection fraction
HP:0012665	Moderately reduced left ventricular ejection fraction
HP:0012666	Severely reduced left ventricular ejection fraction
HP:0031185	Elevated circulating NT-proBNP concentration

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST000974_17	HDL cholesterol	7.000000e-07
GCST010573_1	Cardiorespiratory fitness (800m run time)	2.000000e-09

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004328	exercise test

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

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression	2
bisphenol A	affects binding, increases reaction	1
trichostatin A	affects expression	1
coumarin	decreases phosphorylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment, decreases expression	1
entinostat	increases expression	1
dimethylarsinous acid	increases expression	1
jinfukang	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Lipopolysaccharides	affects response to substance, increases expression, affects cotreatment, decreases expression	1
Malathion	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Triclosan	decreases expression	1
S-Nitrosoglutathione	increases 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