ACTL8
gene geneOn this page
Also known as CT57
Summary
ACTL8 (actin like 8, HGNC:24018) is a protein-coding gene on chromosome 1p36.13, encoding Actin-like protein 8 (Q9H568).
Predicted to enable protein kinase binding activity. Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Involved in epithelial cell differentiation. Predicted to be located in cytoskeleton. Predicted to be part of NuA4 histone acetyltransferase complex. Predicted to be active in several cellular components, including actin filament; axon; and synapse.
Source: NCBI Gene 81569 — RefSeq curated summary.
At a glance
- GWAS associations: 6
- Clinical variants (ClinVar): 65 total — 5 pathogenic
- Phenotypes (HPO): 1
- Druggable target: yes
- MANE Select transcript:
NM_030812
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24018 |
| Approved symbol | ACTL8 |
| Name | actin like 8 |
| Location | 1p36.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | CT57 |
| Ensembl gene | ENSG00000117148 |
| Ensembl biotype | protein_coding |
| OMIM | 621132 |
| Entrez | 81569 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000375406, ENST00000617065, ENST00000922969, ENST00000922970, ENST00000967949, ENST00000967950
RefSeq mRNA: 1 — MANE Select: NM_030812
NM_030812
CCDS: CCDS183
Canonical transcript exons
ENST00000375406 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001267551 | 17822985 | 17823356 |
| ENSE00001466977 | 17825767 | 17827063 |
| ENSE00001466981 | 17755333 | 17755504 |
Expression profiles
Bgee: expression breadth broad, 28 present calls, max score 99.97.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9544 / max 202.2875, expressed in 160 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 1015 | 0.9544 | 160 |
Top tissues by expression
275 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 99.97 | gold quality |
| secondary oocyte | CL:0000655 | 99.92 | gold quality |
| olfactory bulb | UBERON:0002264 | 91.15 | gold quality |
| type B pancreatic cell | CL:0000169 | 89.55 | gold quality |
| diaphragm | UBERON:0001103 | 83.72 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 81.17 | gold quality |
| male germ cell | CL:0000015 | 80.56 | gold quality |
| upper arm skin | UBERON:0004263 | 80.37 | gold quality |
| sperm | CL:0000019 | 79.36 | gold quality |
| cervix squamous epithelium | UBERON:0006922 | 79.31 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 79.23 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 76.65 | gold quality |
| tongue squamous epithelium | UBERON:0006919 | 76.36 | gold quality |
| thymus | UBERON:0002370 | 75.23 | gold quality |
| cervix epithelium | UBERON:0004801 | 74.45 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 73.72 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 73.67 | gold quality |
| pons | UBERON:0000988 | 73.62 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 73.56 | gold quality |
| vena cava | UBERON:0004087 | 73.54 | gold quality |
| ventral tegmental area | UBERON:0002691 | 73.00 | gold quality |
| gluteal muscle | UBERON:0002000 | 72.93 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 72.85 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 72.48 | gold quality |
| triceps brachii | UBERON:0001509 | 72.14 | gold quality |
| right testis | UBERON:0004534 | 71.85 | gold quality |
| cardia of stomach | UBERON:0001162 | 71.77 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 71.74 | gold quality |
| body of tongue | UBERON:0011876 | 71.68 | gold quality |
| tongue | UBERON:0001723 | 71.58 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
14 targeting ACTL8, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-548AA | 99.96 | 70.64 | 3753 |
| HSA-MIR-548AP-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-548T-3P | 99.96 | 70.64 | 3753 |
| HSA-MIR-6778-3P | 99.96 | 67.29 | 2693 |
| HSA-MIR-548AS-3P | 99.12 | 69.12 | 2294 |
| HSA-MIR-2115-5P | 98.66 | 68.07 | 1191 |
| HSA-MIR-548AT-3P | 98.37 | 64.98 | 580 |
| HSA-MIR-548AY-3P | 98.37 | 65.14 | 562 |
| HSA-MIR-4717-5P | 98.19 | 67.97 | 894 |
| HSA-MIR-6801-3P | 98.04 | 64.64 | 805 |
| HSA-MIR-6810-3P | 97.96 | 64.57 | 1023 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-4308 | 97.56 | 67.13 | 1385 |
Literature-anchored findings (GeneRIF, showing 3)
- Actin-like protein 8 promotes cell proliferation, colony-formation, proangiogenesis, migration and invasion in lung adenocarcinoma cells. (PMID:31962007)
- Actin-like protein 8, a member of cancer/testis antigens, supports the aggressive development of oral squamous cell carcinoma cells via activating cell cycle signaling. (PMID:35051678)
- ACTL8 Promotes the Progression of Gastric Cancer Through PI3K/AKT/mTOR Signaling Pathway. (PMID:39322809)
Cross-species orthologs
0 orthologs
Paralogs (26): ACTR6 (ENSG00000075089), ACTB (ENSG00000075624), ACTL6B (ENSG00000077080), ACTR5 (ENSG00000101442), ACTR3C (ENSG00000106526), ACTA2 (ENSG00000107796), ACTR8 (ENSG00000113812), ACTR1B (ENSG00000115073), ACTR3 (ENSG00000115091), ACTRT1 (ENSG00000123165), ACTR10 (ENSG00000131966), ACTR3B (ENSG00000133627), ACTL6A (ENSG00000136518), ACTR2 (ENSG00000138071), ACTR1A (ENSG00000138107), ACTA1 (ENSG00000143632), ACTL7B (ENSG00000148156), ACTC1 (ENSG00000159251), ACTG2 (ENSG00000163017), ACTBL2 (ENSG00000169067), ACTRT2 (ENSG00000169717), ACTL9 (ENSG00000181786), ACTG1 (ENSG00000184009), ACTRT3 (ENSG00000184378), ACTL7A (ENSG00000187003), ACTL10 (ENSG00000288649)
Protein
Protein identifiers
Actin-like protein 8 — Q9H568 (reviewed: Q9H568)
Alternative names: Cancer/testis antigen 57
All UniProt accessions (1): Q9H568
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Cytoplasm. Cytoskeleton.
Tissue specificity. Strongly expressed in testis and pancreas. Weak expression in placenta.
Similarity. Belongs to the actin family.
RefSeq proteins (1): NP_110439* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR004000 | Actin | Family |
| IPR043129 | ATPase_NBD | Homologous_superfamily |
Pfam: PF00022
UniProt features (3 total): sequence variant 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H568-F1 | 88.51 | 0.66 |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 63 (showing top):
GOBP_EPITHELIUM_DEVELOPMENT, GOBP_NEUROGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION, GOCC_NEURON_PROJECTION, GOBP_CELL_PROJECTION_ORGANIZATION, GRADE_COLON_AND_RECTAL_CANCER_DN, SHEN_SMARCA2_TARGETS_DN, GOCC_H4_HISTONE_ACETYLTRANSFERASE_COMPLEX, VECCHI_GASTRIC_CANCER_ADVANCED_VS_EARLY_UP, GOCC_TRANSFERASE_COMPLEX, GOCC_SYNAPSE, GOCC_AXON, GOMF_KINASE_BINDING, GOMF_STRUCTURAL_CONSTITUENT_OF_CYTOSKELETON, GOMF_STRUCTURAL_MOLECULE_ACTIVITY
GO Biological Process (4): axonogenesis (GO:0007409), epithelial cell differentiation (GO:0030855), cell motility (GO:0048870), postsynaptic actin cytoskeleton organization (GO:0098974)
GO Molecular Function (3): protein kinase binding (GO:0019901), structural constituent of postsynaptic actin cytoskeleton (GO:0098973), protein binding (GO:0005515)
GO Cellular Component (8): cytoplasm (GO:0005737), actin filament (GO:0005884), actin cytoskeleton (GO:0015629), membrane (GO:0016020), axon (GO:0030424), NuA4 histone acetyltransferase complex (GO:0035267), synapse (GO:0045202), cytoskeleton (GO:0005856)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| cell differentiation | 1 |
| epithelium development | 1 |
| cellular process | 1 |
| actin cytoskeleton organization | 1 |
| postsynaptic cytoskeleton organization | 1 |
| kinase binding | 1 |
| structural constituent of cytoskeleton | 1 |
| postsynaptic actin cytoskeleton | 1 |
| postsynaptic actin cytoskeleton organization | 1 |
| structural constituent of postsynapse | 1 |
| binding | 1 |
| intracellular anatomical structure | 1 |
| actin cytoskeleton | 1 |
| polymeric cytoskeletal fiber | 1 |
| cytoskeleton | 1 |
| neuron projection | 1 |
| H4/H2A histone acetyltransferase complex | 1 |
| cell junction | 1 |
| intracellular membraneless organelle | 1 |
Protein interactions and networks
STRING
2112 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ACTL8 | XAGE3 | Q8WTP9 | 667 |
| ACTL8 | CT83 | Q5H943 | 542 |
| ACTL8 | AQP7B | A0A075B734 | 517 |
| ACTL8 | CT55 | Q8WUE5 | 507 |
| ACTL8 | CT45A1 | Q5HYN5 | 507 |
| ACTL8 | PASD1 | Q8IV76 | 505 |
| ACTL8 | GAGE2A | Q6NT46 | 457 |
| ACTL8 | XAGE1B | Q9HD64 | 447 |
| ACTL8 | OIP5 | O43482 | 445 |
| ACTL8 | A0A1W2PQG5 | A0A1W2PQG5 | 432 |
| ACTL8 | C4orf51 | C9J302 | 432 |
| ACTL8 | CSAG2 | Q9Y5P2 | 418 |
| ACTL8 | CTCFL | Q8NI51 | 408 |
| ACTL8 | EPPIN | O95925 | 399 |
| ACTL8 | MAGEB6 | Q8N7X4 | 396 |
IntAct
29 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CERT1 | ACTL8 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ACTL8 | CERT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| Snw1 | AKR7A2 | psi-mi:“MI:0914”(association) | 0.350 |
| Ranbp2 | POM121C | psi-mi:“MI:0914”(association) | 0.350 |
| RACGAP1 | STX18 | psi-mi:“MI:0914”(association) | 0.350 |
| RNF2 | AKIP1 | psi-mi:“MI:0914”(association) | 0.350 |
| Cct4 | ARHGAP32 | psi-mi:“MI:0914”(association) | 0.350 |
| TCEAL4 | USP11 | psi-mi:“MI:0914”(association) | 0.350 |
| Cct2 | OSBPL9 | psi-mi:“MI:0914”(association) | 0.350 |
| Skp1 | XPO1 | psi-mi:“MI:0914”(association) | 0.350 |
| Cct3 | PFDN1 | psi-mi:“MI:0914”(association) | 0.350 |
| Cct8 | DTL | psi-mi:“MI:0914”(association) | 0.350 |
| Pcgf1 | SCAMP3 | psi-mi:“MI:0914”(association) | 0.350 |
| BCOR | HSPD1 | psi-mi:“MI:0914”(association) | 0.350 |
| TCF20 | MTA3 | psi-mi:“MI:0914”(association) | 0.350 |
| Kif19 | NBAS | psi-mi:“MI:0914”(association) | 0.350 |
| MYO5C | CLIC1 | psi-mi:“MI:0914”(association) | 0.350 |
| TWNK | RAD9A | psi-mi:“MI:0914”(association) | 0.350 |
| MYC | TARS3 | psi-mi:“MI:0914”(association) | 0.350 |
| Uso1 | SLC30A6 | psi-mi:“MI:0914”(association) | 0.350 |
| TRIM29 | SEC16A | psi-mi:“MI:0914”(association) | 0.350 |
| VPS26B | KIF1B | psi-mi:“MI:0914”(association) | 0.350 |
| USP7 | STIL | psi-mi:“MI:0914”(association) | 0.350 |
| PLEKHA7 | PLEKHG3 | psi-mi:“MI:0914”(association) | 0.350 |
| ACTL8 | CERT1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (30): ACTL8 (Two-hybrid), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS), ACTL8 (Affinity Capture-MS)
ESM2 similar proteins: A2YUL5, A4IFE3, A7MB62, O94241, O94630, O96621, P02583, P20360, P32381, P38673, P38696, P42023, P42025, P45888, P45889, P53487, P53488, P53489, P53503, P61160, P61161, P61162, P61163, P61164, P85515, Q2TA43, Q4R6J9, Q4R821, Q54HE7, Q54HE9, Q54I79, Q56A35, Q5BL41, Q5M7U6, Q5R4K0, Q5XIK1, Q61JZ2, Q641W9, Q6Z256, Q7SXW6
Diamond homologs: A2AKE7, P10994, P24902, P26183, P30161, P45521, P45891, P53477, P53499, P53502, P80428, P84856, Q09849, Q25379, Q25380, Q25381, Q4IPI4, Q4WHA3, Q55CU2, Q5AC48, Q5AW89, Q5JWF8, Q6BXN0, Q6C061, Q6CSB9, Q6FJV8, Q754G5, Q96484, Q9H568, Q9P7X7, A2YR10, D0LWX4, P38696, Q24733, Q2T9W4, Q32KZ2, Q4R317, Q4R6Q3, Q4R821, Q641W9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
65 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 5 |
| Likely pathogenic | 0 |
| Uncertain significance | 54 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (5)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1340990 | GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1 | Pathogenic |
| 3062822 | GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1 | Pathogenic |
| 4846749 | GRCh38/hg38 1p36.13(chr1:16950757-19234873)x1 | Pathogenic |
| 57443 | GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1 | Pathogenic |
| 58056 | GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3 | Pathogenic |
SpliceAI
881 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:17822981:GCAG:G | acceptor_loss | 1.0000 |
| 1:17822983:A:AG | acceptor_gain | 1.0000 |
| 1:17822983:AG:A | acceptor_gain | 1.0000 |
| 1:17822984:G:GG | acceptor_gain | 1.0000 |
| 1:17822984:G:GT | acceptor_loss | 1.0000 |
| 1:17822984:GG:G | acceptor_gain | 1.0000 |
| 1:17822984:GGTCC:G | acceptor_gain | 1.0000 |
| 1:17823354:G:GT | donor_gain | 1.0000 |
| 1:17823355:AGG:A | donor_loss | 1.0000 |
| 1:17823356:GGTGA:G | donor_loss | 1.0000 |
| 1:17823358:T:A | donor_loss | 1.0000 |
| 1:17825761:TTGCA:T | acceptor_loss | 1.0000 |
| 1:17825762:TGCA:T | acceptor_loss | 1.0000 |
| 1:17825763:GCA:G | acceptor_loss | 1.0000 |
| 1:17825764:CA:C | acceptor_loss | 1.0000 |
| 1:17825765:A:AG | acceptor_gain | 1.0000 |
| 1:17825765:AGA:A | acceptor_loss | 1.0000 |
| 1:17825766:G:GA | acceptor_loss | 1.0000 |
| 1:17825766:G:GG | acceptor_gain | 1.0000 |
| 1:17822984:GGT:G | acceptor_gain | 0.9900 |
| 1:17822984:GGTC:G | acceptor_gain | 0.9900 |
| 1:17825759:C:CA | acceptor_gain | 0.9900 |
| 1:17825766:GATC:G | acceptor_gain | 0.9900 |
| 1:17755502:CTGG:C | donor_loss | 0.9800 |
| 1:17755506:TAC:T | donor_loss | 0.9800 |
| 1:17822980:C:CA | acceptor_gain | 0.9800 |
| 1:17823353:GGAG:G | donor_gain | 0.9800 |
| 1:17823354:GAG:G | donor_gain | 0.9800 |
| 1:17823357:G:GG | donor_gain | 0.9800 |
| 1:17825766:GATCC:G | acceptor_gain | 0.9800 |
AlphaMissense
2396 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:17823056:G:C | K16N | 0.992 |
| 1:17823056:G:T | K16N | 0.992 |
| 1:17823252:T:A | W82R | 0.992 |
| 1:17823252:T:C | W82R | 0.992 |
| 1:17826430:T:A | W338R | 0.992 |
| 1:17826430:T:C | W338R | 0.992 |
| 1:17825852:G:A | G145E | 0.989 |
| 1:17826437:G:A | G340E | 0.989 |
| 1:17826314:G:A | G299E | 0.987 |
| 1:17826321:C:A | N301K | 0.987 |
| 1:17826321:C:G | N301K | 0.987 |
| 1:17826314:G:T | G299V | 0.986 |
| 1:17826196:T:C | F260L | 0.985 |
| 1:17826198:T:A | F260L | 0.985 |
| 1:17826198:T:G | F260L | 0.985 |
| 1:17826436:G:A | G340R | 0.985 |
| 1:17826436:G:C | G340R | 0.985 |
| 1:17823233:G:C | W75C | 0.983 |
| 1:17823233:G:T | W75C | 0.983 |
| 1:17826437:G:T | G340V | 0.983 |
| 1:17823082:C:A | P25H | 0.981 |
| 1:17825798:T:A | V127D | 0.981 |
| 1:17825861:T:A | V148D | 0.981 |
| 1:17825896:T:C | F160L | 0.981 |
| 1:17825898:C:A | F160L | 0.981 |
| 1:17825898:C:G | F160L | 0.981 |
| 1:17826197:T:C | F260S | 0.981 |
| 1:17826347:G:C | R310P | 0.981 |
| 1:17825866:T:C | S150P | 0.980 |
| 1:17825969:T:C | L184P | 0.980 |
dbSNP variants (sampled 300 via entrez): RS1000000510 (1:17754892 T>C,G), RS1000013390 (1:17820438 A>G), RS1000046339 (1:17781674 G>T), RS1000069946 (1:17796640 G>A), RS1000207830 (1:17824857 A>C), RS1000211980 (1:17798570 T>A), RS1000218151 (1:17803946 C>T), RS1000221512 (1:17791577 G>A,T), RS1000229467 (1:17766142 C>T), RS1000313484 (1:17760599 A>G), RS1000349080 (1:17780344 G>C), RS1000415719 (1:17821361 C>T), RS1000478506 (1:17792603 G>A), RS1000487981 (1:17754878 C>A,G), RS1000490805 (1:17820131 G>A)
Disease associations
OMIM: gene MIM:621132 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): breast ductal adenocarcinoma (MONDO:0005590), hypertrophic cardiomyopathy (MONDO:0005045)
Orphanet (1): Rare hypertrophic cardiomyopathy (Orphanet:217569)
HPO phenotypes
1 total (1 of 1 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0001639 | Hypertrophic cardiomyopathy |
GWAS associations
6 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_503 | Obesity-related traits | 3.000000e-06 |
| GCST006993_1 | Hippocampal volume in Alzheimer’s disease dementia | 3.000000e-07 |
| GCST008173_1 | Alanine aminotransferase levels | 4.000000e-06 |
| GCST008359_3 | Response to cognitive-behavioural therapy in anxiety disorder | 1.000000e-06 |
| GCST009391_1266 | Metabolite levels | 4.000000e-06 |
| GCST009391_1397 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (5, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004730 | hormone measurement |
| EFO:0005035 | hippocampal volume |
| EFO:0007820 | cognitive behavioural therapy |
| EFO:0010545 | uridine diphosphate measurement |
| EFO:0010369 | lysophosphatidylethanolamine 18:2 measurement |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D018270 | Carcinoma, Ductal, Breast | C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390 |
| 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): CHEMBL5724738 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
16 total (human), top 16 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 2 |
| Esketamine | decreases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| rutecarpine | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Fluorouracil | affects reaction, decreases expression | 1 |
| Niclosamide | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Triclosan | increases expression | 1 |
| Valproic Acid | increases methylation | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Okadaic Acid | increases expression | 1 |
ChEMBL screening assays
6 unique, capped per target: 6 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL5697459 | Binding | Inhibition of ACTL8 (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis | Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_D7JG | Ubigene A-549 ACTL8 KO | Cancer cell line | Male |
Clinical trials (associated diseases)
238 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 |
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| 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. |
| NCT00461344 | PHASE2 | TERMINATED | Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer |
| NCT07499999 | PHASE2 | NOT_YET_RECRUITING | Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer |
| 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. |
Related Atlas pages
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