ANTKMT
geneOn this page
Also known as MGC2494
Summary
ANTKMT (adenine nucleotide translocase lysine methyltransferase, HGNC:14152) is a protein-coding gene on chromosome 16p13.3, encoding Adenine nucleotide translocase lysine N-methyltransferase (Q9BQD7). Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration.
Enables protein-lysine N-methyltransferase activity. Involved in peptidyl-lysine trimethylation. Located in mitochondrion.
Source: NCBI Gene 65990 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 103 total — 17 pathogenic
- MANE Select transcript:
NM_023933
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:14152 |
| Approved symbol | ANTKMT |
| Name | adenine nucleotide translocase lysine methyltransferase |
| Location | 16p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC2494 |
| Ensembl gene | ENSG00000103254 |
| Ensembl biotype | protein_coding |
| OMIM | 618566 |
| Entrez | 65990 |
Gene structure
Transcript identifiers
Ensembl transcripts: 11 — 7 protein_coding, 4 retained_intron
ENST00000219535, ENST00000564000, ENST00000564640, ENST00000566437, ENST00000566525, ENST00000568916, ENST00000569529, ENST00000570237, ENST00000853259, ENST00000853260, ENST00000853261
RefSeq mRNA: 2 — MANE Select: NM_023933
NM_001271285, NM_023933
CCDS: CCDS10423, CCDS59254
Canonical transcript exons
ENST00000569529 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000664194 | 722084 | 722134 |
| ENSE00000664195 | 721801 | 721941 |
| ENSE00002611837 | 721146 | 721436 |
| ENSE00003471140 | 722309 | 722590 |
| ENSE00003680095 | 721598 | 721702 |
Expression profiles
Bgee: expression breadth ubiquitous, 243 present calls, max score 94.30.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.5084 / max 139.3693, expressed in 1803 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 151983 | 11.7178 | 1795 |
| 151985 | 1.1189 | 329 |
| 151984 | 0.5788 | 233 |
| 151986 | 0.5338 | 186 |
| 151982 | 0.4840 | 213 |
| 151987 | 0.0515 | 10 |
| 151988 | 0.0237 | 8 |
Top tissues by expression
270 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| anterior cingulate cortex | UBERON:0009835 | 94.30 | gold quality |
| cingulate cortex | UBERON:0003027 | 94.22 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 93.85 | gold quality |
| right testis | UBERON:0004534 | 93.65 | gold quality |
| right frontal lobe | UBERON:0002810 | 93.60 | gold quality |
| left testis | UBERON:0004533 | 93.59 | gold quality |
| amygdala | UBERON:0001876 | 93.47 | gold quality |
| apex of heart | UBERON:0002098 | 93.13 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 92.97 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 92.86 | gold quality |
| prefrontal cortex | UBERON:0000451 | 92.43 | gold quality |
| adenohypophysis | UBERON:0002196 | 92.23 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.14 | gold quality |
| testis | UBERON:0000473 | 91.12 | gold quality |
| pituitary gland | UBERON:0000007 | 90.99 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 90.76 | gold quality |
| neocortex | UBERON:0001950 | 90.70 | gold quality |
| frontal cortex | UBERON:0001870 | 90.40 | gold quality |
| granulocyte | CL:0000094 | 90.39 | gold quality |
| right lobe of liver | UBERON:0001114 | 90.13 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 89.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 89.75 | gold quality |
| metanephros cortex | UBERON:0010533 | 89.55 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.33 | gold quality |
| spinal cord | UBERON:0002240 | 89.26 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.06 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 88.85 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 88.76 | gold quality |
| cerebellar cortex | UBERON:0002129 | 88.69 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.64 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.94 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 1)
- FAM173A is the long-sought mitochondrial lysine-specific methyltransferase responsible for adenine nucleotide translocase methylation at Lys-52, and point out the functional significance of Lys-52 methylation in adenine nucleotide translocase. (PMID:31213526)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | antkmt | ENSDARG00000041223 |
| mus_musculus | Antkmt | ENSMUSG00000057411 |
| rattus_norvegicus | Antkmt | ENSRNOG00000019684 |
| drosophila_melanogaster | CG3337 | FBGN0038871 |
| caenorhabditis_elegans | WBGENE00012658 |
Paralogs (1): ATPSCKMT (ENSG00000150756)
Protein
Protein identifiers
Adenine nucleotide translocase lysine N-methyltransferase — Q9BQD7 (reviewed: Q9BQD7)
All UniProt accessions (4): Q9BQD7, H3BPE8, H3BQW1, J3KMW5
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial protein-lysine N-methyltransferase that trimethylates adenine nucleotide translocases ANT2/SLC25A5 and ANT3/SLC25A6, thereby regulating mitochondrial respiration. Probably also trimethylates ANT1/SLC25A4.
Subcellular location. Mitochondrion membrane.
Domain organisation. The pre-methyltransferase (preMT) region is responsible for mitochondrial localization.
Similarity. Belongs to the ANT/ATPSC lysine N-methyltransferase family.
RefSeq proteins (2): NP_001258214, NP_076422* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026170 | FAM173A/B | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
Catalyzed reactions (Rhea), 1 shown:
- L-lysyl-[protein] + 3 S-adenosyl-L-methionine = N(6),N(6),N(6)-trimethyl-L-lysyl-[protein] + 3 S-adenosyl-L-homocysteine + 3 H(+) (RHEA:54192)
UniProt features (9 total): region of interest 4, mutagenesis site 3, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BQD7-F1 | 82.01 | 0.52 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 1–76 | abolished mitochondrial localization. |
| 1–42 | does not affect mitochondrial localization. |
| 105 | abolished methyltransferase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 145 (showing top):
BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY, GOBP_PEPTIDYL_LYSINE_MODIFICATION, GOBP_ATP_BIOSYNTHETIC_PROCESS, GOBP_OXIDATIVE_PHOSPHORYLATION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_TRIPHOSPHATE_BIOSYNTHETIC_PROCESS, GOCC_MITOCHONDRIAL_ENVELOPE, P300_01
GO Biological Process (3): peptidyl-lysine trimethylation (GO:0018023), regulation of mitochondrial ATP synthesis coupled proton transport (GO:1905706), methylation (GO:0032259)
GO Molecular Function (4): protein-lysine N-methyltransferase activity (GO:0016279), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial membrane (GO:0031966), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| peptidyl-lysine methylation | 1 |
| proton motive force-driven mitochondrial ATP synthesis | 1 |
| regulation of ATP biosynthetic process | 1 |
| metabolic process | 1 |
| protein methyltransferase activity | 1 |
| lysine N-methyltransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| mitochondrial envelope | 1 |
| organelle membrane | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
946 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| ANTKMT | SLC38A12 | Q8NE00 | 557 |
| ANTKMT | CRAMP1 | Q96RY5 | 535 |
| ANTKMT | TSR3 | Q9UJK0 | 531 |
| ANTKMT | EEF1AKMT1 | Q8WVE0 | 528 |
| ANTKMT | OXLD1 | Q5BKU9 | 505 |
| ANTKMT | METTL18 | O95568 | 501 |
| ANTKMT | METTL21A | Q8WXB1 | 489 |
| ANTKMT | ETFBKMT | Q8IXQ9 | 469 |
| ANTKMT | VCPKMT | Q9H867 | 468 |
| ANTKMT | PRORP | O15091 | 465 |
| ANTKMT | EEF2KMT | Q96G04 | 464 |
| ANTKMT | TMEM242 | Q9NWH2 | 457 |
| ANTKMT | METTL22 | Q9BUU2 | 438 |
| ANTKMT | METTL23 | Q86XA0 | 434 |
| ANTKMT | EEF1AKMT2 | Q5JPI9 | 429 |
IntAct
59 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| CTNNA3 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| PPP1R16A | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| DTX2 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| HGS | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANTKMT | CTNNA3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ZNF76 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| PIK3R3 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| BANP | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANTKMT | FANCL | psi-mi:“MI:0915”(physical association) | 0.560 |
| HDAC7 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANTKMT | PARVG | psi-mi:“MI:0915”(physical association) | 0.560 |
| EFCAB2 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANTKMT | AIRIM | psi-mi:“MI:0915”(physical association) | 0.560 |
| CCDC24 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| MEIS2 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 | |
| MKRN3 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC1A2 | UBXN8 | psi-mi:“MI:0914”(association) | 0.350 |
| BANP | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.000 |
| FANCL | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.000 |
| HDAC7 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.000 |
| PARVG | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.000 |
| EFCAB2 | ANTKMT | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (27): FAM173A (Two-hybrid), LUC7L (Two-hybrid), FAM173A (Two-hybrid), FAM173A (Two-hybrid), HAP1 (Two-hybrid), IMMT (Two-hybrid), LUC7L2 (Two-hybrid), PFN2 (Two-hybrid), SH3GL3 (Two-hybrid), TP53 (Two-hybrid), FANCL (Two-hybrid), C1orf109 (Two-hybrid), PIK3R3 (Two-hybrid), MEIS2 (Two-hybrid), PARVG (Two-hybrid)
ESM2 similar proteins: A2AA28, A4FV42, A4FV98, A6NDG6, D3YWP0, D3ZVU9, O15315, O35719, O70277, O75382, O94759, P21964, P57775, P81799, Q2TBS1, Q3UGX3, Q4R3I0, Q5E9V4, Q5H879, Q5RJL2, Q5SUV1, Q6DC64, Q7Z624, Q86WI3, Q86XA0, Q8BNV1, Q8C436, Q8CIW5, Q8IZ69, Q8N8L6, Q8N9F0, Q8VCX6, Q8WXB1, Q96AZ1, Q96FB5, Q96RR1, Q9BQD7, Q9BRQ3, Q9BUU2, Q9CQL0
Diamond homologs: D3ZLY0, Q501J2, Q5I047, Q6P4H8, Q9BQD7, Q9D1Z3, Q9XX11, F0NBH8
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 17 |
| Likely pathogenic | 0 |
| Uncertain significance | 67 |
| Likely benign | 5 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (17)
| Variant ID | HGVS | Classification |
|---|---|---|
| 145576 | GRCh38/hg38 16p13.3(chr16:46766-1544014)x1 | Pathogenic |
| 148760 | GRCh38/hg38 16p13.3(chr16:46722-1867327)x1 | Pathogenic |
| 148917 | GRCh38/hg38 16p13.3(chr16:46766-882211)x1 | Pathogenic |
| 152879 | GRCh38/hg38 16p13.3(chr16:59980-1221651)x1 | Pathogenic |
| 1808731 | GRCh37/hg19 16p13.3(chr16:85881-1350186)x1 | Pathogenic |
| 2685536 | GRCh37/hg19 16p13.3(chr16:85881-1657611)x1 | Pathogenic |
| 3243622 | NC_000016.9:g.(?256302)(1557737_?)del | Pathogenic |
| 564251 | GRCh37/hg19 16p13.3(chr16:85880-1498731)x1 | Pathogenic |
| 564252 | GRCh37/hg19 16p13.3(chr16:85880-1875694)x1 | Pathogenic |
| 59410 | GRCh38/hg38 16p13.3(chr16:23141-1712523)x1 | Pathogenic |
| 59411 | GRCh38/hg38 16p13.3(chr16:46766-1997582)x1 | Pathogenic |
| 59425 | GRCh38/hg38 16p13.3(chr16:105429-1499893)x1 | Pathogenic |
| 655214 | NC_000016.9:g.(?624055)(2115656_?)del | Pathogenic |
| 685952 | GRCh37/hg19 16p13.3(chr16:85880-830613)x1 | Pathogenic |
| 687431 | GRCh37/hg19 16p13.3(chr16:85880-1468459)x1 | Pathogenic |
| 688348 | GRCh37/hg19 16p13.3(chr16:85880-2053328)x1 | Pathogenic |
| 815766 | GRCh37/hg19 16p13.3(chr16:85880-1166355)x1 | Pathogenic |
SpliceAI
435 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:721698:GGATC:G | donor_gain | 1.0000 |
| 16:721699:GATC:G | donor_gain | 1.0000 |
| 16:721699:GATCG:G | donor_gain | 1.0000 |
| 16:721700:ATCGT:A | donor_loss | 1.0000 |
| 16:721701:TC:T | donor_gain | 1.0000 |
| 16:721701:TCGT:T | donor_loss | 1.0000 |
| 16:721702:CGT:C | donor_loss | 1.0000 |
| 16:721703:G:GG | donor_gain | 1.0000 |
| 16:721704:T:G | donor_loss | 1.0000 |
| 16:721700:A:T | donor_gain | 0.9900 |
| 16:721700:ATC:A | donor_gain | 0.9900 |
| 16:721705:AA:A | donor_loss | 0.9900 |
| 16:721938:G:GT | donor_gain | 0.9900 |
| 16:721939:A:T | donor_gain | 0.9900 |
| 16:722307:A:AG | acceptor_gain | 0.9900 |
| 16:722308:G:GG | acceptor_gain | 0.9900 |
| 16:721795:CCACA:C | acceptor_loss | 0.9800 |
| 16:721798:CAGGT:C | acceptor_loss | 0.9800 |
| 16:721799:AGGTG:A | acceptor_loss | 0.9800 |
| 16:721416:C:T | donor_gain | 0.9700 |
| 16:721432:TGCAG:T | donor_loss | 0.9700 |
| 16:721434:CAGG:C | donor_loss | 0.9700 |
| 16:721435:AG:A | donor_loss | 0.9700 |
| 16:721436:GGTG:G | donor_loss | 0.9700 |
| 16:721437:GTG:G | donor_loss | 0.9700 |
| 16:721438:T:G | donor_loss | 0.9700 |
| 16:721590:C:CA | acceptor_gain | 0.9700 |
| 16:722306:CAGC:C | acceptor_loss | 0.9700 |
| 16:722307:AGCT:A | acceptor_loss | 0.9700 |
| 16:722308:G:GA | acceptor_loss | 0.9700 |
AlphaMissense
1451 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:722117:T:C | F148L | 0.995 |
| 16:722119:C:A | F148L | 0.995 |
| 16:722119:C:G | F148L | 0.995 |
| 16:722375:T:C | F176L | 0.995 |
| 16:722377:C:A | F176L | 0.995 |
| 16:722377:C:G | F176L | 0.995 |
| 16:721695:G:T | G87V | 0.991 |
| 16:722329:G:C | K160N | 0.990 |
| 16:722329:G:T | K160N | 0.990 |
| 16:722118:T:C | F148S | 0.983 |
| 16:721695:G:A | G87D | 0.981 |
| 16:721677:A:G | D81G | 0.978 |
| 16:721689:G:T | G85V | 0.978 |
| 16:722107:C:A | N144K | 0.978 |
| 16:722107:C:G | N144K | 0.978 |
| 16:721692:A:T | D86V | 0.977 |
| 16:721938:G:C | W135C | 0.976 |
| 16:721938:G:T | W135C | 0.976 |
| 16:721847:A:T | E105V | 0.974 |
| 16:722118:T:G | F148C | 0.974 |
| 16:721689:G:A | G85D | 0.973 |
| 16:721854:C:A | N107K | 0.972 |
| 16:721854:C:G | N107K | 0.972 |
| 16:722109:T:A | V145E | 0.972 |
| 16:722115:T:A | V147E | 0.972 |
| 16:722327:A:G | K160E | 0.971 |
| 16:722376:T:C | F176S | 0.971 |
| 16:721841:G:A | G103D | 0.970 |
| 16:721802:T:A | V90E | 0.968 |
| 16:722117:T:A | F148I | 0.968 |
dbSNP variants (sampled 300 via entrez): RS1000199273 (16:722035 C>A,G,T), RS1001191934 (16:719335 C>G), RS1001274325 (16:721476 C>A,G,T), RS1002276684 (16:720500 G>A,C), RS1003000343 (16:719237 C>G,T), RS1003284900 (16:719529 G>A), RS1003317594 (16:719786 A>C,G), RS1003722728 (16:720246 G>A,T), RS1003936146 (16:720440 C>A,T), RS1005201127 (16:719162 A>G), RS1006431047 (16:721304 G>A,T), RS1007043386 (16:721068 C>A,T), RS1007080844 (16:722239 G>C), RS1007784830 (16:720184 C>T), RS1007808946 (16:721109 A>G)
Disease associations
OMIM: gene MIM:618566 | disease phenotypes: MIM:600669, MIM:617027, MIM:613254
GenCC curated gene-disease
Mondo (4): breast ductal adenocarcinoma (MONDO:0005590), idiopathic generalized epilepsy (MONDO:0005579), hyperaldosteronism, familial, type IV (MONDO:0014875), tuberous sclerosis 2 (MONDO:0013199)
Orphanet (2): Familial hyperaldosteronism type IV (Orphanet:642671), Tuberous sclerosis complex (Orphanet:805)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (3)
| 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 |
| C562694 | Epilepsy, Idiopathic Generalized (supp.) | |
| C566021 | Tuberous Sclerosis 2 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression, increases expression | 3 |
| Valproic Acid | increases expression, increases methylation, affects expression | 3 |
| sodium arsenite | decreases expression | 2 |
| cobaltous chloride | decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| sulforaphane | decreases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| jinfukang | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Diazinon | increases methylation | 1 |
| Ethyl Methanesulfonate | decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Methyl Methanesulfonate | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Thiram | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Copper Sulfate | decreases expression | 1 |
| Acrylamide | decreases expression | 1 |
| Vitamin K 3 | affects expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Cellosaurus cell lines
1 cell lines: 1 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SM85 | HAP1 FAM173A (-) | Cancer cell line | Male |
Clinical trials (associated diseases)
36 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT03590197 | PHASE4 | COMPLETED | Effect of Melatonin on Seizure Outcome, Neuronal Damage and Quality of Life in Patients With Generalized Epilepsy |
| NCT03940326 | PHASE4 | COMPLETED | Levetiracetam Versus Valproate in Idiopathic Generalized Tonic-clonic Seizures |
| NCT03414970 | PHASE3 | ACTIVE_NOT_RECRUITING | Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer |
| NCT00150735 | PHASE3 | COMPLETED | Monotherapy With Levetiracetam in Newly Diagnosed Patients Suffering From Epilepsy |
| NCT00150748 | PHASE3 | COMPLETED | Long Term Follow up Treatment With Levetiracetam in Subjects of 4 Years and Older With Generalized Epilepsy |
| NCT03678753 | PHASE3 | COMPLETED | Randomized, Double-Blind Study to Evaluate Efficacy and Safety of Cenobamate Adjunctive Therapy in PGTC Seizures |
| NCT05147571 | PHASE3 | ACTIVE_NOT_RECRUITING | RNS System NAUTILUS Study |
| 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 |
| NCT06908356 | PHASE2 | RECRUITING | An Open Label Trial to Evaluate the Efficacy and Safety of PRAX-628 in Adults With Focal Onset or Tonic-Clonic Seizures |
| NCT02201212 | PHASE2 | COMPLETED | Everolimus for Cancer With TSC1 or TSC2 Mutation |
| NCT05103358 | PHASE2 | ACTIVE_NOT_RECRUITING | Phase 2 Basket Trial of Nab-sirolimus in Patients With Malignant Solid Tumors With Pathogenic Alterations in TSC1/TSC2 Genes (PRECISION 1) |
| NCT00637364 | PHASE1/PHASE2 | SUSPENDED | High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain |
| NCT02779855 | PHASE1/PHASE2 | COMPLETED | Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer |
| NCT01753908 | EARLY_PHASE1 | COMPLETED | Broccoli Sprout Extract in Treating Patients With Breast Cancer |
| NCT01796041 | EARLY_PHASE1 | COMPLETED | Intraoperative Imaging of Breast Cancer With Indocyanine Green |
| NCT01208974 | Not specified | ACTIVE_NOT_RECRUITING | Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction |
| NCT01875198 | Not specified | TERMINATED | Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer |
| NCT03543397 | Not specified | UNKNOWN | MRI in Ductal Carcinoma in Situ (DCIS) |
| NCT03834532 | Not specified | COMPLETED | Living Well After Breast Surgery |
| NCT06425159 | PHASE2/PHASE3 | TERMINATED | A Study to Determine if BHV-7000 is Effective and Safe in Adults With Idiopathic Generalized Epilepsy With Generalized Tonic-clonic Seizures |
| NCT00001325 | Not specified | COMPLETED | Metabolic Abnormalities in Children With Epilepsy |
| NCT00916903 | Not specified | TERMINATED | Genetic Disease Gene Identification |
| NCT01311440 | Not specified | COMPLETED | Modified Atkins Diet Treatment for Adults With Drug-resistant Epilepsy |
| NCT01432821 | Not specified | COMPLETED | Blinking and Yawning in Epilepsy: The Role of Dopamine |
| NCT03368469 | Not specified | WITHDRAWN | Transcranial Direct Current Stimulation (tDCS) in Children and Adolescents With Epilepsy and Depression |
| NCT03457961 | Not specified | UNKNOWN | Post-market Study of AMPA Receptor Antagonists for Epilepsy Patients in Hong Kong |
| NCT03955432 | Not specified | TERMINATED | Long-term Cardiac Monitoring in Epilepsy |
| NCT04252846 | Not specified | COMPLETED | A Study to Investigate Dosage, Effectiveness, and Safety of Perampanel When Used as First Add-on Therapy in Participants >=12 Years With Partial Onset Seizures With or Without Secondary Generalization or With Primary Generalized Tonic-Clonic Seizures Associated With Idiopathic Generalized Epilepsy |
| NCT04965571 | Not specified | COMPLETED | Clinical Features and Outcome of Wilson’s Disease With Generalized Epilepsy in Chinese Patients |
| NCT05374928 | Not specified | ACTIVE_NOT_RECRUITING | Human Epilepsy Project 3 |
| NCT05530109 | Not specified | TERMINATED | Study of Attentional Disorders in Patients Suffering From Idiopathic Generalized Epilepsy. |
| NCT06388174 | Not specified | RECRUITING | Idiopathic Generalized Epilepsy Syndromes |
| NCT06797791 | Not specified | COMPLETED | Assessment of Multifocal Continuous Theta Burst Transcranial Magnetic Stimulation (cTBS) Effects in Generalized Epilepsy Patients. |
| NCT03655223 | Not specified | ENROLLING_BY_INVITATION | Early Check: Expanded Screening in Newborns |
| NCT03817515 | Not specified | APPROVED_FOR_MARKETING | Expanded Access for ABI-009 in Patients With Advanced PEComa and Patients With a Malignancy With Relevant Genetic Mutations or mTOR Pathway Activation |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): breast ductal adenocarcinoma, hyperaldosteronism, familial, type IV, idiopathic generalized epilepsy, tuberous sclerosis 2