MYOZ1

Summary

MYOZ1 (myozenin 1, HGNC:13752) is a protein-coding gene on chromosome 10q22.2, encoding Myozenin-1 (Q9NP98). Myozenins may serve as intracellular binding proteins involved in linking Z-disk proteins such as alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere.

The protein encoded by this gene is primarily expressed in the skeletal muscle, and belongs to the myozenin family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling.

Source: NCBI Gene 58529 — RefSeq curated summary.

At a glance

• GWAS associations: 12
• Clinical variants (ClinVar): 53 total
• MANE Select transcript: NM_021245

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13752
Approved symbol	MYOZ1
Name	myozenin 1
Location	10q22.2
Locus type	gene with protein product
Status	Approved
Aliases	FATZ, CS-2
Ensembl gene	ENSG00000177791
Ensembl biotype	protein_coding
OMIM	605603
Entrez	58529

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 3 protein_coding

ENST00000359322, ENST00000966208, ENST00000966209

RefSeq mRNA: 1 — MANE Select: NM_021245 NM_021245

CCDS: CCDS7330

Canonical transcript exons

ENST00000359322 — 6 exons

Exon	Start	End
ENSE00001219081	73634484	73634733
ENSE00001219094	73641411	73641474
ENSE00001219097	73631612	73632161
ENSE00001295530	73633900	73634065
ENSE00001324670	73637744	73637922
ENSE00001458867	73639945	73640035

Expression profiles

Bgee: expression breadth ubiquitous, 193 present calls, max score 99.84.

FANTOM5 (CAGE): breadth broad, TPM avg 11.5454 / max 3843.7310, expressed in 287 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
110088	8.6250	76
110089	2.2422	40
110090	0.6781	221

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
hindlimb stylopod muscle	UBERON:0004252	99.84	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	99.81	gold quality
gastrocnemius	UBERON:0001388	99.80	gold quality
biceps brachii	UBERON:0001507	99.76	gold quality
quadriceps femoris	UBERON:0001377	99.74	gold quality
vastus lateralis	UBERON:0001379	99.74	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	99.72	gold quality
skeletal muscle tissue	UBERON:0001134	99.70	gold quality
triceps brachii	UBERON:0001509	99.70	gold quality
gluteal muscle	UBERON:0002000	99.66	gold quality
diaphragm	UBERON:0001103	99.58	gold quality
deltoid	UBERON:0001476	99.52	gold quality
tibialis anterior	UBERON:0001385	99.37	gold quality
body of tongue	UBERON:0011876	99.03	gold quality
muscle organ	UBERON:0001630	98.96	gold quality
muscle of leg	UBERON:0001383	98.68	gold quality
muscle tissue	UBERON:0002385	95.25	gold quality
right coronary artery	UBERON:0001625	94.59	gold quality
popliteal artery	UBERON:0002250	92.39	gold quality
tibial artery	UBERON:0007610	92.38	gold quality
tongue	UBERON:0001723	90.38	gold quality
right atrium auricular region	UBERON:0006631	90.31	gold quality
cardiac atrium	UBERON:0002081	89.27	gold quality
left coronary artery	UBERON:0001626	88.60	gold quality
aorta	UBERON:0000947	88.16	gold quality
coronary artery	UBERON:0001621	87.94	gold quality
pharyngeal mucosa	UBERON:0000355	86.05	gold quality
descending thoracic aorta	UBERON:0002345	85.86	gold quality
cardiac muscle of right atrium	UBERON:0003379	84.67	silver quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	84.56	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

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

miRNA regulators (miRDB)

37 targeting MYOZ1, 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-1250-3P	99.96	70.04	4038
HSA-MIR-6845-3P	99.94	66.88	1439
HSA-MIR-519E-5P	99.92	69.62	2358
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-2392	99.43	67.50	708
HSA-MIR-372-5P	99.41	69.11	2299
HSA-MIR-519D-5P	99.41	69.30	2057
HSA-MIR-452-3P	99.01	66.25	1241
HSA-MIR-1843	98.97	66.07	838
HSA-MIR-4802-5P	98.97	66.26	833
HSA-MIR-6846-5P	98.81	65.86	1121
HSA-MIR-6848-5P	98.81	65.49	1126
HSA-MIR-4686	98.77	66.87	964
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-4710	98.61	65.96	1048
HSA-MIR-767-3P	98.61	67.69	1192
HSA-MIR-3136-5P	98.53	67.68	793
HSA-MIR-4439	98.53	67.53	793
HSA-MIR-6810-5P	98.29	66.21	975
HSA-MIR-1322	97.98	68.96	625
HSA-MIR-943	97.81	64.42	694
HSA-MIR-3921	97.81	67.45	1431
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-7855-5P	97.39	67.18	925
HSA-MIR-4653-5P	97.22	67.72	1429
HSA-MIR-1243	97.07	65.44	719
HSA-MIR-505-5P	97.01	65.54	778

Literature-anchored findings (GeneRIF, showing 5)

• Our findings provide evidence for a novel connection between the Z-disc protein calsarcin-2 and the sarcolemma via filamins and beta1 integrins. (PMID:16076904)
• Mutations in PDLIM3 and MYOZ1, encoding myocyte Z line proteins, do not play any significant role in the genetic etiology of idiopathic DCM. (PMID:17254821)
• Mutations in MYOZ1 and MYOZ2 are at least very rare events as an underlying disease mechanism for idiopathic or familial DCM (PMID:17434779)
• A large number of variations were found in many of the genes (myozenin 1, gamma-filamin, kinectin-1) in patients with limb-girdle muscular dystrophies and controls. (PMID:19472918)
• Our results implicate MYOZ1 as the causative gene at the chromosome 10q22 locus for AF. (PMID:24177373)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	myoz1a	ENSDARG00000056209
danio_rerio	myoz1b	ENSDARG00000071445
mus_musculus	Myoz1	ENSMUSG00000068697
rattus_norvegicus	Myoz1	ENSRNOG00000040122

Paralogs (2): MYOZ3 (ENSG00000164591), MYOZ2 (ENSG00000172399)

Protein

Protein identifiers

Myozenin-1 — Q9NP98 (reviewed: Q9NP98)

Alternative names: Calsarcin-2, Filamin-, actinin- and telethonin-binding protein, Protein FATZ

All UniProt accessions (1): Q9NP98

UniProt curated annotations — full annotation on UniProt →

Function. Myozenins may serve as intracellular binding proteins involved in linking Z-disk 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 with ACTN2, ACTN3, FLNA, FLNB, FLNC, LDB3, PPP3CA and TCAP. Interacts via its C-terminal region with MYOT.

Subcellular location. Nucleus. Cell projection. Pseudopodium.

Tissue specificity. Expressed primarily in skeletal muscle. Detected at lower levels in heart, prostate and pancreas.

Similarity. Belongs to the myozenin family.

RefSeq proteins (1): NP_067068* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR008438	MYOZ	Family

Pfam: PF05556

UniProt features (10 total): region of interest 2, compositionally biased region 2, sequence conflict 2, helix 2, chain 1, modified residue 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7A8T	X-RAY DIFFRACTION	2.69
7ANK	X-RAY DIFFRACTION	3.2
7A8U	X-RAY DIFFRACTION	3.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NP98-F1	58.90	0.03

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 (1): 82

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 140 (showing top): GOBP_MUSCLE_TISSUE_DEVELOPMENT, GOBP_SKELETAL_MUSCLE_TISSUE_REGENERATION, GOBP_REGULATION_OF_CALCIUM_MEDIATED_SIGNALING, GOBP_REGULATION_OF_WOUND_HEALING, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_SKELETAL_MUSCLE_ADAPTATION, MAZ_Q6, GOBP_GROWTH, GOBP_STRIATED_MUSCLE_CELL_DIFFERENTIATION, GOBP_REGENERATION, GOBP_SARCOMERE_ORGANIZATION, AATGGAG_MIR136, CAGCTG_AP4_Q5, GOBP_NEGATIVE_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION

GO Biological Process (8): negative regulation of transcription by RNA polymerase II (GO:0000122), skeletal muscle tissue development (GO:0007519), myofibril assembly (GO:0030239), wound healing (GO:0042060), negative regulation of skeletal muscle tissue regeneration (GO:0043417), skeletal muscle fiber adaptation (GO:0043503), sarcomere organization (GO:0045214), negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)

GO Molecular Function (7): actin binding (GO:0003779), protein serine/threonine phosphatase inhibitor activity (GO:0004865), telethonin binding (GO:0031433), actinin binding (GO:0042805), FATZ binding (GO:0051373), molecular condensate scaffold activity (GO:0140693), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), actin cytoskeleton (GO:0015629), Z disc (GO:0030018), pseudopodium (GO:0031143), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeletal protein binding	4
actomyosin structure organization	2
cellular anatomical structure	2
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
cellular component assembly involved in morphogenesis	1
striated muscle cell development	1
supramolecular fiber organization	1
membraneless organelle assembly	1
response to wounding	1
tissue regeneration	1
skeletal muscle tissue regeneration	1
regulation of skeletal muscle tissue regeneration	1
negative regulation of developmental growth	1
negative regulation of wound healing	1
skeletal muscle adaptation	1
cellular response to stimulus	1
myofibril assembly	1
calcineurin-NFAT signaling cascade	1
regulation of calcineurin-NFAT signaling cascade	1
negative regulation of calcineurin-mediated signaling	1
protein serine/threonine phosphatase activity	1
protein phosphatase inhibitor activity	1
protein-macromolecule adaptor activity	1
binding	1
intracellular membrane-bounded organelle	1
cytoskeleton	1
I band	1
plasma membrane bounded cell projection	1

Protein interactions and networks

STRING

1056 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
MYOZ1	MYOT	Q9UBF9	978
MYOZ1	ACTN2	P35609	961
MYOZ1	TCAP	O15273	958
MYOZ1	FLNC	Q14315	945
MYOZ1	LDB3	O75112	899
MYOZ1	TTN	Q8WZ42	731
MYOZ1	MYPN	Q86TC9	720
MYOZ1	CALML6	Q8TD86	715
MYOZ1	CALML3	P27482	715
MYOZ1	CALML4	Q96GE6	715
MYOZ1	CALML5	Q9NZT1	715
MYOZ1	CALM1	P02593	709
MYOZ1	ACTN1	P12814	690
MYOZ1	SYNPO2L	Q9H987	677
MYOZ1	MYH7	P12883	676

IntAct

236 interactions, top by confidence:

A	B	Type	Score
FLNA	MYOZ1	psi-mi:“MI:0915”(physical association)	0.720
MYOZ1	FLNA	psi-mi:“MI:0915”(physical association)	0.720
ACTN1	MYOZ1	psi-mi:“MI:0915”(physical association)	0.670
USHBP1	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
MYOZ1	GOLGA6A	psi-mi:“MI:0915”(physical association)	0.560
ACTN3	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
LZTS2	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
PLEKHG4	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
TRIM23	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
EXOSC8	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
TRAF1	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
KRT34	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
CEP76	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
PNMA1	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
CRX	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
BAG4	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
VAC14	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
EIF3F	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
MYOZ1	WASHC3	psi-mi:“MI:0915”(physical association)	0.560
CEACAM6	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
MYOZ1	WWOX	psi-mi:“MI:0915”(physical association)	0.560
LHX4	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
MYOZ1	AKAP8L	psi-mi:“MI:0915”(physical association)	0.560
PFDN5	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
KRT36	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
VBP1	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560
KRTAP12-2	MYOZ1	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (56): MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Reconstituted Complex), BRCA1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid), MYOZ1 (Two-hybrid)

ESM2 similar proteins: D3ZQL6, D4A702, E7F568, E9Q0S6, O35867, O54916, O54931, P19973, Q08495, Q08DM1, Q09YM8, Q1LVV0, Q2MJV9, Q3UH68, Q3UIL6, Q4KM62, Q4PS85, Q5NBX1, Q5R4B6, Q5RBH3, Q5RG44, Q5RHU7, Q5U301, Q68CZ2, Q6P4R8, Q6PIJ4, Q80Z38, Q8BWB1, Q8C5R2, Q8CC35, Q8IVT2, Q8K382, Q8N3V7, Q91YE8, Q96D71, Q9D067, Q9D279, Q9GLM4, Q9H987, Q9HBL0

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 106 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
Ras activation upon Ca2+ influx through NMDA receptor	5	39.6×	1e-05
Unblocking of NMDA receptors, glutamate binding and activation	5	37.8×	1e-05
Negative regulation of NMDA receptor-mediated neuronal transmission	5	37.8×	1e-05
Long-term potentiation	5	33.0×	2e-05
Assembly and cell surface presentation of NMDA receptors	9	31.7×	1e-09
Neurexins and neuroligins	10	27.4×	8e-10
Protein-protein interactions at synapses	6	22.1×	2e-05

GO biological processes:

GO term	Partners	Fold	FDR
establishment or maintenance of epithelial cell apical/basal polarity	8	46.5×	3e-09
protein localization to synapse	6	46.0×	6e-07
receptor clustering	7	43.7×	6e-08
regulation of postsynaptic membrane neurotransmitter receptor levels	5	24.8×	1e-04
protein-containing complex assembly	9	10.2×	3e-05
cell-cell adhesion	9	9.1×	7e-05
protein localization to plasma membrane	7	7.6×	2e-03
actin cytoskeleton organization	8	6.3×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	45
Likely benign	6
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1058 predictions. Top by Δscore:

Variant	Effect	Δscore
10:73634074:C:CT	acceptor_gain	1.0000
10:73634075:A:C	acceptor_gain	1.0000
10:73637739:CTCA:C	donor_loss	1.0000
10:73637740:TCA:T	donor_loss	1.0000
10:73637741:CAC:C	donor_loss	1.0000
10:73637742:ACCAT:A	donor_loss	1.0000
10:73637920:CACCT:C	acceptor_gain	1.0000
10:73637924:T:C	acceptor_gain	1.0000
10:73637927:C:CT	acceptor_gain	1.0000
10:73637928:A:T	acceptor_gain	1.0000
10:73637935:C:CT	acceptor_gain	1.0000
10:73637936:A:T	acceptor_gain	1.0000
10:73632158:CGTC:C	acceptor_gain	0.9900
10:73632160:TCCT:T	acceptor_loss	0.9900
10:73632161:CCTG:C	acceptor_loss	0.9900
10:73632162:C:CC	acceptor_gain	0.9900
10:73632162:C:CG	acceptor_loss	0.9900
10:73632163:T:A	acceptor_loss	0.9900
10:73633915:T:C	donor_gain	0.9900
10:73634073:CCA:C	acceptor_gain	0.9900
10:73634074:C:T	acceptor_gain	0.9900
10:73634075:A:AC	acceptor_gain	0.9900
10:73634075:A:T	acceptor_gain	0.9900
10:73634549:C:CT	donor_gain	0.9900
10:73634607:A:AC	donor_gain	0.9900
10:73634608:C:CC	donor_gain	0.9900
10:73634633:G:A	donor_gain	0.9900
10:73637738:ACT:A	donor_loss	0.9900
10:73637742:A:AC	donor_gain	0.9900
10:73637743:C:CC	donor_gain	0.9900

AlphaMissense

1938 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:73634006:A:G	W188R	0.999
10:73634006:A:T	W188R	0.999
10:73637786:A:C	F70L	0.999
10:73637786:A:T	F70L	0.999
10:73637788:A:G	F70L	0.999
10:73637798:C:A	R66S	0.999
10:73637798:C:G	R66S	0.999
10:73637808:C:G	R63P	0.999
10:73637809:G:C	R63G	0.999
10:73637816:G:C	F60L	0.999
10:73637816:G:T	F60L	0.999
10:73637818:A:G	F60L	0.999
10:73637850:A:G	L49P	0.999
10:73632007:A:G	W275R	0.998
10:73632007:A:T	W275R	0.998
10:73633905:G:C	F221L	0.998
10:73633905:G:T	F221L	0.998
10:73633907:A:G	F221L	0.998
10:73634004:C:A	W188C	0.998
10:73634004:C:G	W188C	0.998
10:73637787:A:G	F70S	0.998
10:73637799:C:A	R66M	0.998
10:73637799:C:G	R66T	0.998
10:73637817:A:G	F60S	0.998
10:73637827:A:G	S57P	0.998
10:73637829:C:T	G56D	0.998
10:73637830:C:G	G56R	0.998
10:73637853:T:A	E48V	0.998
10:73637856:T:A	E47V	0.998
10:73632026:G:C	F268L	0.997

dbSNP variants (sampled 300 via entrez): RS1000417812 (10:73636812 T>TA), RS1000491460 (10:73636476 A>G), RS1000754434 (10:73638579 C>A), RS1000982549 (10:73631426 G>A), RS1001544135 (10:73634334 A>C,G), RS1001869546 (10:73633176 A>C,G), RS1001931003 (10:73634582 A>G), RS1002160891 (10:73631689 G>A), RS1002295999 (10:73632941 A>G), RS1002371672 (10:73639208 C>A,T), RS1002706846 (10:73638156 A>C,G), RS1003230190 (10:73640544 AG>A), RS1004154581 (10:73642625 T>C), RS1004228734 (10:73642832 G>A), RS1004381686 (10:73636361 G>A,T)

Disease associations

OMIM: gene MIM:605603 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

12 associations (top):

Study	Trait	p-value
GCST006414_1	Atrial fibrillation	9.000000e-35
GCST010796_1565	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-27
GCST010796_1566	Electrocardiogram morphology (amplitude at temporal datapoints)	9.000000e-12
GCST010796_1567	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-14
GCST010796_1568	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-17
GCST010796_1569	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-19
GCST010796_1570	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-20
GCST010796_1571	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-20
GCST010796_1572	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-22
GCST010796_1573	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-22
GCST010796_1574	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-23
GCST010796_1575	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-25

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004327	electrocardiography

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Valproic Acid	affects cotreatment, decreases expression	2
methylmercuric chloride	decreases expression	1
terbufos	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	decreases expression, affects response to substance, increases expression, affects cotreatment	1
pentanal	increases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Fonofos	increases methylation	1
Endosulfan	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Lipopolysaccharides	decreases expression, affects response to substance, increases expression, affects cotreatment	1
Parathion	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Triclosan	decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

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