MYOZ2

Summary

MYOZ2 (myozenin 2, HGNC:1330) is a protein-coding gene on chromosome 4q26, encoding Myozenin-2 (Q9NPC6). Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere.

The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type 16, a hereditary heart disorder.

Source: NCBI Gene 51778 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hypertrophic cardiomyopathy 16 (Limited, GenCC) — +1 more curated relationship
• GWAS associations: 4
• Clinical variants (ClinVar): 319 total — 1 likely-pathogenic
• Phenotypes (HPO): 14
• MANE Select transcript: NM_016599

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1330
Approved symbol	MYOZ2
Name	myozenin 2
Location	4q26
Locus type	gene with protein product
Status	Approved
Aliases	CS-1, FATZ-2
Ensembl gene	ENSG00000172399
Ensembl biotype	protein_coding
OMIM	605602
Entrez	51778

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 8 protein_coding

ENST00000307128, ENST00000890353, ENST00000890354, ENST00000890355, ENST00000890356, ENST00000958709, ENST00000958710, ENST00000958711

RefSeq mRNA: 1 — MANE Select: NM_016599 NM_016599

CCDS: CCDS3711

Canonical transcript exons

ENST00000307128 — 6 exons

Exon	Start	End
ENSE00001161353	119164211	119164394
ENSE00001161357	119158022	119158151
ENSE00001161361	119150872	119151041
ENSE00001177140	119185966	119187789
ENSE00001205678	119136512	119136601
ENSE00001312493	119135832	119135982

Expression profiles

Bgee: expression breadth ubiquitous, 179 present calls, max score 99.93.

FANTOM5 (CAGE): breadth broad, TPM avg 9.9291 / max 2133.0743, expressed in 331 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
49474	5.9105	281
49475	3.1878	116
49472	0.6361	90
49473	0.1946	43

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
heart right ventricle	UBERON:0002080	99.93	gold quality
left ventricle myocardium	UBERON:0006566	99.80	gold quality
myocardium	UBERON:0002349	99.78	gold quality
cardiac muscle of right atrium	UBERON:0003379	99.66	gold quality
diaphragm	UBERON:0001103	99.59	gold quality
gluteal muscle	UBERON:0002000	99.48	gold quality
vena cava	UBERON:0004087	99.45	gold quality
biceps brachii	UBERON:0001507	99.43	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.42	gold quality
cardiac atrium	UBERON:0002081	99.35	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.35	gold quality
cardiac ventricle	UBERON:0002082	99.31	gold quality
right atrium auricular region	UBERON:0006631	99.31	gold quality
tibialis anterior	UBERON:0001385	99.30	gold quality
heart left ventricle	UBERON:0002084	99.29	gold quality
deltoid	UBERON:0001476	99.23	gold quality
apex of heart	UBERON:0002098	99.19	gold quality
vastus lateralis	UBERON:0001379	99.00	gold quality
quadriceps femoris	UBERON:0001377	98.99	gold quality
triceps brachii	UBERON:0001509	98.89	gold quality
body of tongue	UBERON:0011876	98.83	gold quality
skeletal muscle tissue	UBERON:0001134	98.52	gold quality
hindlimb stylopod muscle	UBERON:0004252	98.10	gold quality
muscle organ	UBERON:0001630	97.19	gold quality
skeletal muscle organ	UBERON:0014892	97.19	gold quality
gastrocnemius	UBERON:0001388	97.09	gold quality
heart	UBERON:0000948	96.82	gold quality
muscle of leg	UBERON:0001383	96.55	gold quality
muscle tissue	UBERON:0002385	95.51	gold quality
tongue	UBERON:0001723	90.07	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-11268	no	1206.22
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MEF2C, NFATC4, NFKB1

miRNA regulators (miRDB)

118 targeting MYOZ2, 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-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-656-3P	100.00	72.15	2788
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 5)

• Two missense mutations, S48P substitution and I246M affecting highly conserved amino acids were linked to hereditary Hypertrophic cardiomyopathy characterized by early onset of symptoms, pronounced cardiac hypertrophy, and cardiac arrhythmias. (PMID:17347475)
• Mutations in MYOZ1 and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM (PMID:17434779)
• The cardiac phenotype in hypertrophic cardiomyopathy caused by MYOZ2 mutations might be independent of calcineurin activity in the heart. (PMID:22987565)
• may play a modifying role in hypertrophic cardiomyopathy by affecting the penetrance or degree of performance of the MYH7 gene (PMID:28296734)
• Study found that MYOZ2 can be used as prognostic factor for gastric cancer. MYOZ2 is highly expressed in gastric cancer (GC) tissues, and its expression is associated with lymph node metastasis, TNM staging and poor patients survival. These results suggest that MYOZ2 gene may play an important role in the occurrence and development of gastric cancer. (PMID:30280773)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	myoz2a	ENSDARG00000012311
danio_rerio	myoz2b	ENSDARG00000037266
danio_rerio		ENSDARG00000099032
mus_musculus	Myoz2	ENSMUSG00000028116
rattus_norvegicus	Myoz2	ENSRNOG00000014815

Paralogs (2): MYOZ3 (ENSG00000164591), MYOZ1 (ENSG00000177791)

Protein

Protein identifiers

Myozenin-2 — Q9NPC6 (reviewed: Q9NPC6)

Alternative names: Calsarcin-1, FATZ-related protein 2

All UniProt accessions (1): Q9NPC6

UniProt curated annotations — full annotation on UniProt →

Function. Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere. Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis.

Subunit / interactions. Interacts via its C-terminus with spectrin repeats 3 and 4 of ACTN2. Interacts with ACTN1, LDB3, MYOT and PPP3CA.

Subcellular location. Cytoplasm. Myofibril. Sarcomere. Z line.

Tissue specificity. Expressed specifically in heart and skeletal muscle.

Disease relevance. Cardiomyopathy, familial hypertrophic, 16 (CMH16) [MIM:613838] A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the myozenin family.

RefSeq proteins (1): NP_057683* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008438	MYOZ	Family

Pfam: PF05556

UniProt features (12 total): modified residue 5, sequence conflict 2, sequence variant 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NPC6-F1	65.51	0.07

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 (5): 53, 101, 107, 111, 116

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 168 (showing top): AP1_01, GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_SKELETAL_MUSCLE_ADAPTATION, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, MEF2_02, GOBP_SARCOMERE_ORGANIZATION, CAGCTG_AP4_Q5, GNF2_MYL3, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, CATRRAGC_UNKNOWN, AP1_Q4_01, GOBP_CELLULAR_COMPONENT_ASSEMBLY_INVOLVED_IN_MORPHOGENESIS, GOBP_MUSCLE_STRUCTURE_DEVELOPMENT, GOBP_MUSCLE_ADAPTATION

GO Biological Process (5): negative regulation of transcription by RNA polymerase II (GO:0000122), skeletal muscle tissue development (GO:0007519), skeletal muscle fiber adaptation (GO:0043503), sarcomere organization (GO:0045214), negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)

GO Molecular Function (5): actin binding (GO:0003779), protein phosphatase 2B binding (GO:0030346), telethonin binding (GO:0031433), FATZ binding (GO:0051373), protein binding (GO:0005515)

GO Cellular Component (4): actin cytoskeleton (GO:0015629), sarcomere (GO:0030017), Z disc (GO:0030018), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeletal protein binding	3
cellular anatomical structure	3
regulation of transcription by RNA polymerase II	1
transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription	1
striated muscle tissue development	1
skeletal muscle organ development	1
skeletal muscle adaptation	1
cellular response to stimulus	1
myofibril assembly	1
actomyosin structure organization	1
calcineurin-NFAT signaling cascade	1
regulation of calcineurin-NFAT signaling cascade	1
negative regulation of calcineurin-mediated signaling	1
protein phosphatase binding	1
binding	1
cytoskeleton	1
myofibril	1
I band	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1152 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYOZ2	TCAP	O15273	975
MYOZ2	ACTN2	P35609	962
MYOZ2	LDB3	O75112	893
MYOZ2	MYOT	Q9UBF9	877
MYOZ2	FLNC	Q14315	835
MYOZ2	CSRP3	P50461	731
MYOZ2	MYL2	P10916	696
MYOZ2	MYL3	P08590	665
MYOZ2	MYBPC3	Q14896	665
MYOZ2	MYH7	P12883	661
MYOZ2	ACTN1	P12814	642
MYOZ2	MYPN	Q86TC9	629
MYOZ2	ANKRD2	Q9GZV1	617
MYOZ2	ACTC1	P04270	606
MYOZ2	RCAN1	P53805	604

IntAct

209 interactions, top by confidence:

A	B	Type	Score
ACTN4	MYOZ2	psi-mi:“MI:0915”(physical association)	0.930
MYOZ2	ACTN4	psi-mi:“MI:0915”(physical association)	0.930
ACTN1	MYOZ2	psi-mi:“MI:0915”(physical association)	0.810
MYOZ2	ACTN1	psi-mi:“MI:0915”(physical association)	0.810
ACTN2	MYOZ2	psi-mi:“MI:0915”(physical association)	0.780
MYOZ2	ACTN2	psi-mi:“MI:0915”(physical association)	0.780

BioGRID (27): MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), MYOZ2 (Two-hybrid), ACTN1 (Two-hybrid), ACTN2 (Two-hybrid), ACTN4 (Two-hybrid), MYOZ2 (Two-hybrid)

ESM2 similar proteins: A0MZ66, A0MZ67, A2APB8, A4IH24, A4UGR9, A6H6Z7, A9JRM0, D4A702, E7F7X0, O35867, O60566, P13505, P14317, P49710, Q14247, Q1LVV0, Q28IH8, Q2MJV9, Q3B820, Q3MHH7, Q4KM62, Q4R6Q9, Q4U4S6, Q5E9V3, Q5NVK0, Q5PZ43, Q5R6I2, Q5RAF2, Q60598, Q66HL2, Q66KE9, Q6AYN9, Q6DDV8, Q6DFB7, Q6NUF4, Q6P0R8, Q6ZUJ8, Q71LX6, Q7T0S7, Q80ZU5

Diamond homologs: Q4PS85, Q5E9V3, Q5R6I2, Q8R4E4, Q8SQ24, Q8TDC0, Q9JJW5, Q9JK37, Q9NP98, Q9NPC6

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 94 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
Unblocking of NMDA receptors, glutamate binding and activation	7	62.4×	6e-10
Negative regulation of NMDA receptor-mediated neuronal transmission	7	62.4×	6e-10
Ras activation upon Ca2+ influx through NMDA receptor	6	56.2×	3e-08
Long-term potentiation	7	54.6×	1e-09
Assembly and cell surface presentation of NMDA receptors	12	49.9×	1e-15
Dopamine Neurotransmitter Release Cycle	5	40.7×	4e-06
Nephrin family interactions	5	39.0×	4e-06
Neurexins and neuroligins	12	38.7×	2e-14

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	10	66.8×	9e-14
protein localization to synapse	6	52.8×	2e-07
receptor clustering	7	50.2×	2e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	5	28.5×	6e-05
protein-containing complex assembly	10	13.1×	6e-07
cell-cell adhesion	10	11.7×	1e-06
actin cytoskeleton organization	9	8.2×	9e-05
protein localization to plasma membrane	6	7.5×	3e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	196
Likely benign	73
Benign	25

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
30508	NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)	Likely pathogenic

SpliceAI

1087 predictions. Top by Δscore:

Variant	Effect	Δscore
4:119135978:GCAAG:G	donor_gain	1.0000
4:119135980:AAGG:A	donor_loss	1.0000
4:119135981:AGGT:A	donor_loss	1.0000
4:119136586:G:GT	donor_gain	1.0000
4:119150866:TTACA:T	acceptor_loss	1.0000
4:119150867:TACAG:T	acceptor_loss	1.0000
4:119150868:ACAGA:A	acceptor_loss	1.0000
4:119150869:CAGAT:C	acceptor_loss	1.0000
4:119150870:A:AC	acceptor_loss	1.0000
4:119150870:A:AG	acceptor_gain	1.0000
4:119150871:G:A	acceptor_loss	1.0000
4:119150871:G:GT	acceptor_gain	1.0000
4:119150871:GAT:G	acceptor_gain	1.0000
4:119151042:G:GG	donor_gain	1.0000
4:119164207:AAAG:A	acceptor_gain	1.0000
4:119185964:AG:A	acceptor_gain	1.0000
4:119185965:GG:G	acceptor_gain	1.0000
4:119135979:CAAG:C	donor_gain	0.9900
4:119135981:AG:A	donor_gain	0.9900
4:119135982:GG:G	donor_gain	0.9900
4:119135983:G:GG	donor_gain	0.9900
4:119150870:AGAT:A	acceptor_gain	0.9900
4:119150871:GA:G	acceptor_gain	0.9900
4:119150871:GATG:G	acceptor_gain	0.9900
4:119150871:GATGT:G	acceptor_gain	0.9900
4:119151039:AAT:A	donor_gain	0.9900
4:119151040:AT:A	donor_gain	0.9900
4:119164207:A:AG	acceptor_gain	0.9900
4:119164208:A:G	acceptor_gain	0.9900
4:119164210:GGAT:G	acceptor_gain	0.9900

AlphaMissense

1753 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:119150976:C:A	R61S	0.998
4:119164288:T:A	W152R	0.998
4:119164288:T:C	W152R	0.998
4:119150977:G:C	R61P	0.997
4:119150987:A:C	R64S	0.997
4:119150987:A:T	R64S	0.997
4:119164387:T:C	F185L	0.997
4:119164389:T:A	F185L	0.997
4:119164389:T:G	F185L	0.997
4:119185971:C:A	A189D	0.997
4:119186120:T:A	W239R	0.997
4:119186120:T:C	W239R	0.997
4:119150980:A:C	Q62P	0.996
4:119164290:G:C	W152C	0.996
4:119164290:G:T	W152C	0.996
4:119164392:C:A	N186K	0.995
4:119164392:C:G	N186K	0.995
4:119185979:T:C	F192L	0.995
4:119185981:T:A	F192L	0.995
4:119185981:T:G	F192L	0.995
4:119150935:T:C	L47S	0.994
4:119150967:T:C	F58L	0.994
4:119150969:T:A	F58L	0.994
4:119150969:T:G	F58L	0.994
4:119150986:G:C	R64T	0.994
4:119150988:T:C	S65P	0.994
4:119150976:C:G	R61G	0.993
4:119164388:T:C	F185S	0.993
4:119150968:T:C	F58S	0.992
4:119164249:T:C	F139L	0.992

dbSNP variants (sampled 300 via entrez): RS1000028917 (4:119165460 G>C), RS1000069217 (4:119147091 TATC>T), RS10002355 (4:119179702 C>T), RS1000246297 (4:119153546 A>G), RS1000345740 (4:119160576 C>A), RS10003519 (4:119137684 A>G), RS10004093 (4:119154871 G>A,C,T), RS1000419182 (4:119160228 A>C), RS1000755442 (4:119147396 C>T), RS1000790024 (4:119166483 T>C), RS1000834136 (4:119160312 T>C), RS1000858113 (4:119153348 T>C), RS1000889443 (4:119153676 T>C), RS1000893370 (4:119171742 A>G), RS1000944844 (4:119183161 A>G)

Disease associations

OMIM: gene MIM:605602 | disease phenotypes: MIM:613838, MIM:192600

GenCC curated gene-disease

Disease	Classification	Inheritance
hypertrophic cardiomyopathy 16	Limited	Autosomal dominant

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
hypertrophic cardiomyopathy	Disputed	AD

Mondo (5): hypertrophic cardiomyopathy (MONDO:0005045), hypertrophic cardiomyopathy 16 (MONDO:0013455), cardiomyopathy (MONDO:0004994), familial hypertrophic cardiomyopathy (MONDO:0024573), restrictive cardiomyopathy (MONDO:0005201)

Orphanet (5): Rare hypertrophic cardiomyopathy (Orphanet:217569), Rare cardiomyopathy (Orphanet:167848), Rare familial disorder with hypertrophic cardiomyopathy (Orphanet:99739), Restrictive cardiomyopathy (Orphanet:217632), NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy (Orphanet:155)

HPO phenotypes

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

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0001279	Syncope
HP:0001639	Hypertrophic cardiomyopathy
HP:0001645	Sudden cardiac death
HP:0001670	Asymmetric septal hypertrophy
HP:0001712	Left ventricular hypertrophy
HP:0001962	Palpitations
HP:0002094	Dyspnea
HP:0003621	Juvenile onset
HP:0004756	Ventricular tachycardia
HP:0005110	Atrial fibrillation
HP:0011713	Left bundle branch block
HP:0012664	Reduced left ventricular ejection fraction
HP:0012764	Orthopnea

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST010002_14	Refractive error	5.000000e-18
GCST010242_120	HDL cholesterol levels	2.000000e-08
GCST010320_41	PR interval	2.000000e-08
GCST90002387_96	Immature fraction of reticulocytes	2.000000e-10

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004462	PR interval

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
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
D002313	Cardiomyopathy, Restrictive	C14.280.238.160

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	decreases methylation	1
methyleugenol	decreases expression	1
bisphenol A	increases expression	1
trichostatin A	increases expression	1
trimellitic anhydride	decreases expression	1
CGP 52608	affects binding, increases reaction	1
perfluoro-n-nonanoic acid	increases expression	1
perfluorohexanesulfonic acid	increases expression	1
abrine	increases expression	1
bisphenol S	increases methylation	1
incobotulinumtoxinA	decreases expression	1
Doxorubicin	decreases expression	1
Rotenone	decreases expression	1
Tretinoin	increases expression	1
Triclosan	decreases expression	1
Valproic Acid	decreases methylation	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00879060	PHASE4	COMPLETED	Clinical and Therapeutic Implications of Fibrosis in Hypertrophic Cardiomyopathy
NCT01721967	PHASE4	COMPLETED	Ranolazine for the Treatment of Chest Pain in HCM Patients
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NCT07103655	PHASE4	NOT_YET_RECRUITING	The Therapeutic Value of Mavacamten in Hypertrophic Cardiomyopathy With Mid-to-Apical Left Ventricular Obstruction
NCT07600177	PHASE4	RECRUITING	Mavacamten to Aficamten Transition in Patients With Obstructive Hypertrophic Cardiomyopathy
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NCT07023341	PHASE3	ACTIVE_NOT_RECRUITING	A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy
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