TNNC2
geneOn this page
Also known as FAP85CFAP85
Summary
TNNC2 (troponin C2, fast skeletal type, HGNC:11944) is a protein-coding gene on chromosome 20q13.12, encoding Troponin C, skeletal muscle (P02585). Troponin is the central regulatory protein of striated muscle contraction.
Troponin (Tn), a key protein complex in the regulation of striated muscle contraction, is composed of 3 subunits. The Tn-I subunit inhibits actomyosin ATPase, the Tn-T subunit binds tropomyosin and Tn-C, while the Tn-C subunit binds calcium and overcomes the inhibitory action of the troponin complex on actin filaments. The protein encoded by this gene is the Tn-C subunit.
Source: NCBI Gene 7125 — RefSeq curated summary.
At a glance
- Gene–disease (curated): congenital myopathy 15 (Strong, GenCC) — +1 more curated relationship
- Clinical variants (ClinVar): 14 total — 2 pathogenic
- Phenotypes (HPO): 18
- Druggable target: yes
- MANE Select transcript:
NM_003279
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:11944 |
| Approved symbol | TNNC2 |
| Name | troponin C2, fast skeletal type |
| Location | 20q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FAP85, CFAP85 |
| Ensembl gene | ENSG00000101470 |
| Ensembl biotype | protein_coding |
| OMIM | 191039 |
| Entrez | 7125 |
Gene structure
Transcript identifiers
Ensembl transcripts: 2 — 2 protein_coding
ENST00000372555, ENST00000372557
RefSeq mRNA: 1 — MANE Select: NM_003279
NM_003279
CCDS: CCDS13375
Canonical transcript exons
ENST00000372555 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000662419 | 45824292 | 45824406 |
| ENSE00000662420 | 45824495 | 45824638 |
| ENSE00000845047 | 45823991 | 45824127 |
| ENSE00001458086 | 45827246 | 45827312 |
| ENSE00001458091 | 45823214 | 45823379 |
| ENSE00003573925 | 45824783 | 45824834 |
Expression profiles
Bgee: expression breadth ubiquitous, 190 present calls, max score 99.97.
FANTOM5 (CAGE): breadth broad, TPM avg 38.2120 / max 10692.8820, expressed in 217 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 187491 | 37.1352 | 158 |
| 187490 | 0.2312 | 28 |
| 187485 | 0.2037 | 24 |
| 187486 | 0.1725 | 24 |
| 187488 | 0.1235 | 23 |
| 187484 | 0.0992 | 18 |
| 187487 | 0.0901 | 19 |
| 209144 | 0.0881 | 40 |
| 187489 | 0.0684 | 15 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| skeletal muscle tissue of rectus abdominis | UBERON:0004511 | 99.97 | gold quality |
| gastrocnemius | UBERON:0001388 | 99.94 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 99.94 | gold quality |
| diaphragm | UBERON:0001103 | 99.93 | gold quality |
| quadriceps femoris | UBERON:0001377 | 99.92 | gold quality |
| vastus lateralis | UBERON:0001379 | 99.92 | gold quality |
| skeletal muscle tissue | UBERON:0001134 | 99.90 | gold quality |
| skeletal muscle tissue of biceps brachii | UBERON:0004502 | 99.90 | gold quality |
| biceps brachii | UBERON:0001507 | 99.89 | gold quality |
| body of tongue | UBERON:0011876 | 99.88 | gold quality |
| triceps brachii | UBERON:0001509 | 99.87 | gold quality |
| deltoid | UBERON:0001476 | 99.85 | gold quality |
| gluteal muscle | UBERON:0002000 | 99.81 | gold quality |
| tibialis anterior | UBERON:0001385 | 99.64 | gold quality |
| muscle organ | UBERON:0001630 | 99.23 | gold quality |
| muscle of leg | UBERON:0001383 | 98.97 | gold quality |
| muscle tissue | UBERON:0002385 | 92.81 | gold quality |
| tongue | UBERON:0001723 | 91.62 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 89.80 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 88.43 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 86.86 | gold quality |
| monocyte | CL:0000576 | 85.70 | gold quality |
| mononuclear cell | CL:0000842 | 85.37 | gold quality |
| superior surface of tongue | UBERON:0007371 | 84.36 | gold quality |
| leukocyte | CL:0000738 | 84.31 | gold quality |
| tendon of biceps brachii | UBERON:0008188 | 83.58 | silver quality |
| trabecular bone tissue | UBERON:0002483 | 80.94 | gold quality |
| minor salivary gland | UBERON:0001830 | 80.49 | gold quality |
| popliteal artery | UBERON:0002250 | 79.31 | gold quality |
| tibial artery | UBERON:0007610 | 79.28 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-56 | yes | 5959.60 |
| E-MTAB-8410 | yes | 16.61 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
6 targeting TNNC2, 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-6885-3P | 99.75 | 70.36 | 3187 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-7114-3P | 98.42 | 66.53 | 569 |
| HSA-MIR-1180-5P | 98.16 | 65.32 | 460 |
| HSA-MIR-3667-5P | 97.16 | 64.87 | 591 |
| HSA-MIR-1281 | 92.96 | 65.73 | 260 |
Literature-anchored findings (GeneRIF, showing 3)
- Bioinformatics-based discovery of PYGM and TNNC2 as potential biomarkers of head and neck squamous cell carcinoma. (PMID:31324732)
- A Mechanism Underlying Sex-Associated Differences in Ankylosing Spondylitis: Troponin C2, Fast Skeletal Type (TNNC2) and Calcium Signaling Pathway. (PMID:33052895)
- Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium. (PMID:33755597)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | tnnc2.2 | ENSDARG00000070835 |
| danio_rerio | tnnc2.1 | ENSDARG00000095002 |
| mus_musculus | Tnnc2 | ENSMUSG00000017300 |
| rattus_norvegicus | Tnnc2 | ENSRNOG00000015155 |
Paralogs (1): TNNC1 (ENSG00000114854)
Protein
Protein identifiers
Troponin C, skeletal muscle — P02585 (reviewed: P02585)
All UniProt accessions (2): P02585, C9J7T9
UniProt curated annotations — full annotation on UniProt →
Function. Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.
Disease relevance. Congenital myopathy 15 (CMYO15) [MIM:620161] An autosomal dominant myopathy characterized by neonatal onset of hypotonia, muscle weakness, and respiratory muscle involvement resulting in severe respiratory insufficiency. The disorder improves over time, although forced vital capacity remains decreased. Other features include facial weakness, often with ptosis or external ophthalmoplegia, jaw or distal joint contractures, scoliosis, and osteopenia. The disease is caused by variants affecting the gene represented in this entry.
Miscellaneous. Skeletal muscle troponin C binds four calcium ions.
Similarity. Belongs to the troponin C family.
RefSeq proteins (1): NP_003270* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002048 | EF_hand_dom | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR018247 | EF_Hand_1_Ca_BS | Binding_site |
| IPR050230 | CALM/Myosin/TropC-like | Family |
Pfam: PF13499
UniProt features (37 total): binding site 19, helix 6, domain 4, sequence variant 2, sequence conflict 2, initiator methionine 1, chain 1, modified residue 1, strand 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7KAA | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P02585-F1 | 84.09 | 0.26 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (19): 64; 66; 68; 70; 75; 104; 106; 108; 110; 115; 140; 142 …
Post-translational modifications (1): 2
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-390522 | Striated Muscle Contraction |
MSigDB gene sets: 187 (showing top):
GCANCTGNY_MYOD_Q6, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, HUMMERICH_BENIGN_SKIN_TUMOR_DN, HUMMERICH_MALIGNANT_SKIN_TUMOR_DN, GOBP_MULTICELLULAR_ORGANISMAL_MOVEMENT, MEF2_02, LEE_LIVER_CANCER_CIPROFIBRATE_DN, GOBP_SKELETAL_MUSCLE_CONTRACTION, CAGCTG_AP4_Q5, HUMMERICH_SKIN_CANCER_PROGRESSION_DN, CEBPB_01, GOBP_REGULATION_OF_MUSCLE_CONTRACTION, GOBP_MUSCLE_CONTRACTION, GOBP_REGULATION_OF_SYSTEM_PROCESS, LEE_LIVER_CANCER_DENA_DN
GO Biological Process (2): skeletal muscle contraction (GO:0003009), regulation of muscle contraction (GO:0006937)
GO Molecular Function (4): calcium ion binding (GO:0005509), actin binding (GO:0003779), protein binding (GO:0005515), metal ion binding (GO:0046872)
GO Cellular Component (2): cytosol (GO:0005829), troponin complex (GO:0005861)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Muscle contraction | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| striated muscle contraction | 1 |
| musculoskeletal movement | 1 |
| muscle contraction | 1 |
| regulation of muscle system process | 1 |
| metal ion binding | 1 |
| cytoskeletal protein binding | 1 |
| binding | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| striated muscle thin filament | 1 |
| protein-containing complex | 1 |
Protein interactions and networks
STRING
2210 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| TNNC2 | TNNT3 | P45378 | 828 |
| TNNC2 | TNNI2 | P48788 | 807 |
| TNNC2 | TNNI1 | P19237 | 697 |
| TNNC2 | MYL11 | Q96A32 | 671 |
| TNNC2 | TPM2 | P06468 | 644 |
| TNNC2 | TNNT1 | P13805 | 641 |
| TNNC2 | ACTN3 | Q08043 | 601 |
| TNNC2 | TPM1 | P09493 | 590 |
| TNNC2 | MYH4 | Q9Y623 | 585 |
| TNNC2 | MYH3 | P11055 | 584 |
| TNNC2 | ACTA1 | P02568 | 583 |
| TNNC2 | TNNI3 | P19429 | 567 |
| TNNC2 | MYH2 | Q9UKX2 | 556 |
| TNNC2 | MYH1 | P12882 | 555 |
| TNNC2 | ACTN2 | P35609 | 554 |
IntAct
40 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| HUS1 | RAD1 | psi-mi:“MI:0914”(association) | 0.840 |
| TNNC2 | TBC1D1 | psi-mi:“MI:0915”(physical association) | 0.670 |
| TNNC2 | TNNI3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| TNNI3 | TNNC2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOSIP | TNNC2 | psi-mi:“MI:0914”(association) | 0.530 |
| KCNAB2 | TNNC2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TNNC2 | PGAM2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TMEM186 | TNNC2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| C9orf78 | TNNC2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TNNC2 | PIK3R3 | psi-mi:“MI:0915”(physical association) | 0.370 |
| DUX4L9 | TNNC2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| TMEM131 | CNOT1 | psi-mi:“MI:0914”(association) | 0.350 |
| MECOM | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| RSPH6A | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| SNRPC | GNPAT | psi-mi:“MI:0914”(association) | 0.350 |
| UBE2W | MARCHF6 | psi-mi:“MI:0914”(association) | 0.350 |
| PPIL3 | SNX3 | psi-mi:“MI:0914”(association) | 0.350 |
| TNNC2 | ECI2 | psi-mi:“MI:0914”(association) | 0.350 |
| C20orf141 | ENDOD1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRR15 | TNNC2 | psi-mi:“MI:0914”(association) | 0.350 |
| SDHD | TNNC2 | psi-mi:“MI:0914”(association) | 0.350 |
| C7orf33 | TNNC2 | psi-mi:“MI:0914”(association) | 0.350 |
| TSPAN33 | ATP2A1 | psi-mi:“MI:0914”(association) | 0.350 |
| CD300C | SMPD2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (65): TNNI3 (Two-hybrid), TNNC2 (Affinity Capture-MS), TNNC2 (Two-hybrid), TNNC2 (Two-hybrid), TNNC2 (Affinity Capture-MS), TNNC2 (Affinity Capture-MS), TNNC2 (Two-hybrid), TNNC2 (Affinity Capture-MS), TNNC2 (Affinity Capture-MS), TNNC2 (Affinity Capture-MS), TNNC2 (Affinity Capture-MS), TNNC2 (Affinity Capture-MS), TNNC2 (Affinity Capture-MS), POGZ (Affinity Capture-MS), ZBTB21 (Affinity Capture-MS)
ESM2 similar proteins: A0T2M3, O64943, P02585, P04110, P06706, P06707, P06708, P20801, P21797, P29289, P29290, P29291, P35622, Q0IQB6, Q0IUU4, Q2R1Z5, Q3SB08, Q3SB09, Q3SB10, Q3SB11, Q3SB12, Q3SB13, Q3SB14, Q3SB15, Q6BWS8, Q84MN0, Q8AY75, Q8S1Y9, Q8TD86, Q94AZ4, Q9BLG0, Q9C8Y1, Q9C9U8, Q9FYK2, Q9JM83, Q9LE22, Q9LF55, Q9LNE7, Q9LPK5, Q9LQN4
Diamond homologs: A0A125YZN2, A0T2M3, A2WN93, A2Y609, A3E3H0, A3E4D8, A3E4F9, A4UHC0, A8CEP3, A8I1Q0, O00897, O23184, O60041, O64943, O82018, O94739, P02585, P02597, P02598, P04352, P04353, P04464, P05419, P06707, P06787, P07463, P0DH95, P0DH96, P11120, P11121, P15094, P18061, P21797, P21798, P25070, P25071, P27165, P27166, P29289, P29290
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| “MYOD1/SWI/SNF complex” | “up-regulates quantity by expression” | TNNC2 | “transcriptional regulation” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
14 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1806474 | NM_003279.3(TNNC2):c.100G>T (p.Asp34Tyr) | Pathogenic |
| 1806475 | NM_003279.3(TNNC2):c.237G>C (p.Met79Ile) | Pathogenic |
SpliceAI
478 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:45823378:CT:C | acceptor_gain | 1.0000 |
| 20:45823380:C:CC | acceptor_gain | 1.0000 |
| 20:45823986:CTCA:C | donor_loss | 1.0000 |
| 20:45823987:TCACC:T | donor_loss | 1.0000 |
| 20:45823988:CACC:C | donor_loss | 1.0000 |
| 20:45823989:A:AC | donor_gain | 1.0000 |
| 20:45823990:C:CC | donor_gain | 1.0000 |
| 20:45823990:CCG:C | donor_gain | 1.0000 |
| 20:45823990:CCGT:C | donor_gain | 1.0000 |
| 20:45824137:C:CT | acceptor_gain | 1.0000 |
| 20:45824138:G:T | acceptor_gain | 1.0000 |
| 20:45824288:GCAC:G | donor_loss | 1.0000 |
| 20:45824289:CA:C | donor_loss | 1.0000 |
| 20:45824290:A:AT | donor_loss | 1.0000 |
| 20:45824291:C:CA | donor_loss | 1.0000 |
| 20:45824403:CTGC:C | acceptor_gain | 1.0000 |
| 20:45824404:TGC:T | acceptor_gain | 1.0000 |
| 20:45824404:TGCC:T | acceptor_loss | 1.0000 |
| 20:45824406:CCTG:C | acceptor_loss | 1.0000 |
| 20:45824407:C:CC | acceptor_gain | 1.0000 |
| 20:45824491:TCACC:T | donor_loss | 1.0000 |
| 20:45824493:A:AC | donor_gain | 1.0000 |
| 20:45824493:ACCGT:A | donor_gain | 1.0000 |
| 20:45824494:C:CC | donor_gain | 1.0000 |
| 20:45824494:CCGT:C | donor_gain | 1.0000 |
| 20:45824494:CCGTC:C | donor_gain | 1.0000 |
| 20:45824497:T:A | donor_gain | 1.0000 |
| 20:45824509:T:TA | donor_gain | 1.0000 |
| 20:45824634:GAACT:G | acceptor_gain | 1.0000 |
| 20:45824635:AACT:A | acceptor_gain | 1.0000 |
AlphaMissense
1107 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:45824378:G:C | F76L | 1.000 |
| 20:45824378:G:T | F76L | 1.000 |
| 20:45824380:A:G | F76L | 1.000 |
| 20:45824622:A:C | F24L | 1.000 |
| 20:45824622:A:T | F24L | 1.000 |
| 20:45824624:A:G | F24L | 1.000 |
| 20:45824307:A:G | F100S | 0.999 |
| 20:45824504:C:G | D64H | 0.999 |
| 20:45824527:A:G | L56P | 0.999 |
| 20:45824575:A:G | L40S | 0.999 |
| 20:45824038:A:G | L135P | 0.998 |
| 20:45824095:A:G | L116P | 0.998 |
| 20:45824110:A:T | I111N | 0.998 |
| 20:45824306:G:C | F100L | 0.998 |
| 20:45824306:G:T | F100L | 0.998 |
| 20:45824308:A:G | F100L | 0.998 |
| 20:45824379:A:G | F76S | 0.998 |
| 20:45824394:A:T | I71N | 0.998 |
| 20:45824503:T:A | D64V | 0.998 |
| 20:45824503:T:G | D64A | 0.998 |
| 20:45824590:A:T | I35N | 0.998 |
| 20:45824613:A:C | F27L | 0.998 |
| 20:45824613:A:T | F27L | 0.998 |
| 20:45824615:A:G | F27L | 0.998 |
| 20:45824623:A:G | F24S | 0.998 |
| 20:45823376:A:G | F152S | 0.997 |
| 20:45824011:T:A | D144V | 0.997 |
| 20:45824023:T:G | D140A | 0.997 |
| 20:45824116:C:A | G109V | 0.997 |
| 20:45824295:T:G | D104A | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000528307 (20:45823546 G>A), RS1000573167 (20:45829807 A>G), RS1000587637 (20:45825912 G>A,C), RS1000654231 (20:45827623 T>C), RS1000972499 (20:45833754 C>A,T), RS1001109810 (20:45833347 T>C), RS1001599717 (20:45824314 C>G,T), RS1001693283 (20:45832189 A>G), RS1001904030 (20:45823105 C>T), RS1002032038 (20:45830428 T>A), RS1002196964 (20:45833958 G>A,T), RS1002336692 (20:45822982 A>G), RS1002586061 (20:45823144 C>A,T), RS1002729036 (20:45833520 C>T), RS1002943923 (20:45823330 G>A)
Disease associations
OMIM: gene MIM:191039 | disease phenotypes: MIM:620161
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| congenital myopathy 15 | Strong | Autosomal dominant |
| hypertrophic cardiomyopathy | No Known Disease Relationship | Autosomal dominant |
ClinGen Gene-Disease Validity (1)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| hypertrophic cardiomyopathy | No Known Disease Relationship | AD |
Mondo (2): congenital myopathy 15 (MONDO:0859335), hypertrophic cardiomyopathy (MONDO:0005045)
Orphanet (0):
HPO phenotypes
18 total (18 of 18 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000938 | Osteopenia |
| HP:0001252 | Hypotonia |
| HP:0001270 | Motor delay |
| HP:0001324 | Muscle weakness |
| HP:0001382 | Joint hypermobility |
| HP:0001558 | Decreased fetal movement |
| HP:0001561 | Polyhydramnios |
| HP:0001605 | Vocal cord paralysis |
| HP:0002515 | Waddling gait |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003577 | Congenital onset |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0005180 | Tricuspid regurgitation |
| HP:0012385 | Camptodactyly |
| HP:0012548 | Fatty replacement of skeletal muscle |
| HP:0030319 | Weakness of facial musculature |
| HP:0032341 | Reduced forced vital capacity |
GWAS associations
0 associations (top):
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D002312 | Cardiomyopathy, Hypertrophic | C14.280.238.100; C14.280.484.048.750.070.160 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3831282 (PROTEIN COMPLEX)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
31 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| entinostat | increases expression, affects cotreatment | 2 |
| Valproic Acid | affects expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| licochalcone B | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| incobotulinumtoxinA | decreases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | affects cotreatment, decreases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Estradiol | affects expression | 1 |
| Indomethacin | increases expression, affects cotreatment | 1 |
| Methapyrilene | increases methylation | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases expression | 1 |
| Cadmium Chloride | decreases expression | 1 |
| Copper Sulfate | 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 |
| NCT02948998 | PHASE4 | UNKNOWN | Evaluating the Effect of Spironolactone on Hypertrophic Cardiomyopathy |
| NCT03249272 | PHASE4 | TERMINATED | Microvascular Dysfunction in Nonischemic Cardiomyopathy: Insights From CMR Assessment of Coronary Flow Reserve |
| NCT04133532 | PHASE4 | COMPLETED | Effect of Metoprolol in Post Alcohol Septal Ablation Patients With Hypertrophic Cardiomyopathy |
| NCT06401343 | PHASE4 | RECRUITING | Use of SGLT2i in noHCM With HFpEF |
| 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 |
| NCT00317967 | PHASE3 | COMPLETED | Study to Determine if Atorvastatin Reduces Size and Stiffness of Muscle in the Left Ventricle of the Heart |
| NCT00698074 | PHASE3 | UNKNOWN | Diastolic Ventricular Interaction and the Effects of Biventricular Pacing in Hypertrophic Cardiomyopathy |
| NCT00821353 | PHASE3 | COMPLETED | Antiarrhythmic Therapy Versus Catheter Ablation for Atrial Fibrillation in Hypertrophic Cardiomyopathy |
| NCT02431221 | PHASE3 | WITHDRAWN | Efficacy, Safety, and Tolerability of Perhexiline in Subjects With Hypertrophic Cardiomyopathy and Heart Failure |
| NCT03470545 | PHASE3 | COMPLETED | Clinical Study to Evaluate Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy |
| NCT05174416 | PHASE3 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Mavacamten in Chinese Adults With Symptomatic Obstructive HCM |
| NCT05182658 | PHASE3 | ACTIVE_NOT_RECRUITING | Empagliflozin in Hypertrophic Cardiomyopathy |
| NCT05186818 | PHASE3 | COMPLETED | Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Placebo in Adults With Symptomatic oHCM |
| NCT05767346 | PHASE3 | COMPLETED | Phase 3 Trial to Evaluate the Efficacy and Safety of Aficamten Compared to Metoprolol Succinate in Adults With Symptomatic oHCM |
| NCT06116968 | PHASE3 | COMPLETED | An Open-Label Study of Aficamten for Chinese Patients With Symptomatic oHCM |
| NCT06873828 | PHASE3 | NOT_YET_RECRUITING | Evaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter MonitoringEvaluation of the Efficacy and Safety of Wearable ECG (AT-Patch) in Patients With Hypertrophic Cardiomyopathy Requiring 48-Hour Holter Monitoring |
| NCT07021976 | PHASE3 | RECRUITING | A Phase III Trial of HRS-1893 in Patients With Obstructive Hypertrophic Cardiomyopathy |
| NCT07023341 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Learn More About How Well Aficamten Works in Japanese Participants With Symptomatic Obstructive Hypertrophic Cardiomyopathy |
| NCT07202897 | PHASE3 | NOT_YET_RECRUITING | LA-HCM Study : Rivaroxaban for Antithrombotic Prevention in Hypertrophic Cardiomyopathy Patients With Abnormal Left Atrial Strain. |
| NCT00001631 | PHASE2 | COMPLETED | Study of Blood Flow in Heart Muscle |
| NCT00001894 | PHASE2 | COMPLETED | A Comparison of Two Treatments: Pacemaker and Percutaneous Transluminal Septal Ablation for Hypertrophic Cardiomyopathy |
| NCT00001960 | PHASE2 | COMPLETED | Studying the Effectiveness of Pacemaker Therapy in Children Who Have Thickened Heart Muscle |
| NCT00011076 | PHASE2 | COMPLETED | Pirfenidone to Treat Hypertrophic Cardiomyopathy |
| NCT00035386 | PHASE2 | COMPLETED | Alcohol Septal Ablation in Obstructive Hypertrophic Cardiomyopathy: A Pilot Study |
| NCT00430833 | PHASE2 | UNKNOWN | CHANCE - Candesartan in Hypertrophic Cardiomyopathy |
| NCT00500552 | PHASE2 | COMPLETED | Perhexiline Therapy in Patients With Hypertrophic Cardiomyopathy |
| NCT01150461 | PHASE2 | COMPLETED | Effect of Losartan in Patients With Nonobstructive Hypertrophic Cardiomyopathy |
| NCT01230918 | PHASE2 | TERMINATED | Study to Develop a Non-invasive Marker for Monitoring Myocardial Fibrosis |
| NCT01447654 | PHASE2 | COMPLETED | Inhibition of the Renin Angiotensin System With Losartan in Patients With Hypertrophic Cardiomyopathy |
| NCT01696370 | PHASE2 | UNKNOWN | Trimetazidine Therapy in Hypertrophic Cardiomyopathy |
| NCT01912534 | PHASE2 | COMPLETED | Valsartan for Attenuating Disease Evolution In Early Sarcomeric HCM |
| NCT02590809 | PHASE2 | COMPLETED | Hypertrophic Cardiomyopathy Symptom Release by BX1514M |
| NCT03496168 | PHASE2 | COMPLETED | Extension Study of Mavacamten (MYK-461) in Adults With Symptomatic Obstructive Hypertrophic Cardiomyopathy Previously Enrolled in PIONEER |
| NCT03532802 | PHASE2 | COMPLETED | The Effect of Metoprolol in Patients With Hypertrophic Obstructive Cardiomyopathy. |
| NCT03832660 | PHASE2 | COMPLETED | Sacubitril/Valsartan vs Lifestyle in Hypertrophic Cardiomyopathy |
| NCT04219826 | PHASE2 | COMPLETED | Dose-finding Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of CK-3773274 in Adults With Hypertrophic Cardiomyopathy |
| NCT04426578 | PHASE2 | UNKNOWN | Role of Perhexiline in Hypertrophic Cardiomyopathy |
Related Atlas pages
- Associated diseases: congenital myopathy 15, hypertrophic cardiomyopathy
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): congenital myopathy 15, hypertrophic cardiomyopathy