HENMT1
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Also known as FLJ30525HEN1
Summary
HENMT1 (HEN methyltransferase 1, HGNC:26400) is a protein-coding gene on chromosome 1p13.3, encoding Small RNA 2’-O-methyltransferase (Q5T8I9). Methyltransferase that adds a 2’-O-methyl group at the 3’-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements.
Enables small RNA 2’-O-methyltransferase activity. Involved in RNA methylation. Predicted to be located in P granule. Predicted to be active in cytoplasm and nucleus.
Source: NCBI Gene 113802 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 75 total — 2 pathogenic
- MANE Select transcript:
NM_001102592
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26400 |
| Approved symbol | HENMT1 |
| Name | HEN methyltransferase 1 |
| Location | 1p13.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ30525, HEN1 |
| Ensembl gene | ENSG00000162639 |
| Ensembl biotype | protein_coding |
| OMIM | 612178 |
| Entrez | 113802 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 11 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000370031, ENST00000370032, ENST00000483729, ENST00000493676, ENST00000651461, ENST00000868362, ENST00000868363, ENST00000868364, ENST00000868365, ENST00000912747, ENST00000912748, ENST00000968606, ENST00000968607
RefSeq mRNA: 2 — MANE Select: NM_001102592
NM_001102592, NM_144584
CCDS: CCDS787
Canonical transcript exons
ENST00000651461 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003559555 | 108657451 | 108657579 |
| ENSE00003573529 | 108650211 | 108650388 |
| ENSE00003628053 | 108651030 | 108651209 |
| ENSE00003672776 | 108654716 | 108654850 |
| ENSE00003848308 | 108660963 | 108661093 |
| ENSE00003892510 | 108655586 | 108655698 |
| ENSE00003892786 | 108648295 | 108648991 |
| ENSE00003893960 | 108659864 | 108659962 |
Expression profiles
Bgee: expression breadth ubiquitous, 214 present calls, max score 99.13.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.1676 / max 129.0103, expressed in 1248 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 13651 | 3.8429 | 901 |
| 13653 | 1.4688 | 526 |
| 13652 | 1.3372 | 670 |
| 13650 | 0.5188 | 294 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 99.13 | gold quality |
| secondary oocyte | CL:0000655 | 98.75 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 98.38 | gold quality |
| right testis | UBERON:0004534 | 96.13 | gold quality |
| left testis | UBERON:0004533 | 95.91 | gold quality |
| testis | UBERON:0000473 | 95.32 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 94.09 | gold quality |
| granulocyte | CL:0000094 | 89.88 | gold quality |
| adult organism | UBERON:0007023 | 88.01 | gold quality |
| cortical plate | UBERON:0005343 | 86.55 | gold quality |
| pons | UBERON:0000988 | 86.42 | gold quality |
| leukocyte | CL:0000738 | 85.68 | gold quality |
| monocyte | CL:0000576 | 85.31 | gold quality |
| thymus | UBERON:0002370 | 85.29 | gold quality |
| ileal mucosa | UBERON:0000331 | 85.14 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.67 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 84.33 | silver quality |
| blood | UBERON:0000178 | 83.85 | gold quality |
| bone marrow | UBERON:0002371 | 83.71 | gold quality |
| hypothalamus | UBERON:0001898 | 83.40 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 83.02 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 82.92 | gold quality |
| lymph node | UBERON:0000029 | 82.61 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 82.59 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 82.42 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 82.03 | gold quality |
| frontal cortex | UBERON:0001870 | 81.95 | gold quality |
| nucleus accumbens | UBERON:0001882 | 81.87 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 81.84 | gold quality |
| rectum | UBERON:0001052 | 81.77 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-134144 | yes | 29.61 |
| E-ANND-3 | yes | 5.93 |
| E-MTAB-7249 | no | 203.50 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
20 targeting HENMT1, 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-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548AE-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-548AH-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AM-3P | 99.93 | 72.54 | 4872 |
| HSA-MIR-548AQ-3P | 99.93 | 72.66 | 4867 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-345-3P | 99.89 | 70.23 | 1421 |
| HSA-MIR-323A-3P | 99.79 | 70.30 | 1739 |
| HSA-MIR-183-3P | 99.41 | 69.41 | 1598 |
| HSA-MIR-6507-3P | 99.35 | 67.32 | 1059 |
| HSA-MIR-3190-5P | 98.87 | 64.89 | 1345 |
| HSA-MIR-4725-5P | 98.67 | 65.42 | 628 |
| HSA-MIR-504-5P | 98.67 | 65.40 | 631 |
| HSA-MIR-6516-5P | 98.42 | 70.19 | 1551 |
| HSA-MIR-3159 | 97.94 | 66.79 | 1098 |
| HSA-MIR-526B-5P | 97.41 | 67.99 | 1074 |
Literature-anchored findings (GeneRIF, showing 4)
- HENMT1 and PIWI proteins are expressed in a germ-cell-specific manner and required for transposon control. (PMID:28676534)
- The proposed PEC bioassay exhibited high selectivity and low detection limit of 3.36ng/mL for HENMT1 activity assay. Furthermore, the inhibition research indicated that chlorpyrifos could inhibit the HENMT1 activity with the IC50 value of 48.32nM. (PMID:29277012)
- methylation substrates in mouse spermatogonial stem cells and the substrate-recognition mechanism of mammalian Hen1 (PMID:29703750)
- Screening of potential key genes in esophageal cancer based on RBP and expression verification of HENMT1. (PMID:38065897)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | henmt1 | ENSDARG00000018871 |
| mus_musculus | Henmt1 | ENSMUSG00000045662 |
| rattus_norvegicus | Henmt1 | ENSRNOG00000042814 |
| drosophila_melanogaster | Hen1 | FBGN0033686 |
| caenorhabditis_elegans | WBGENE00015349 |
Protein
Protein identifiers
Small RNA 2’-O-methyltransferase — Q5T8I9 (reviewed: Q5T8I9)
Alternative names: HEN1 methyltransferase homolog 1
All UniProt accessions (2): Q5T8I9, A0A0A0MRN1
UniProt curated annotations — full annotation on UniProt →
Function. Methyltransferase that adds a 2’-O-methyl group at the 3’-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. This probably protects the 3’-end of piRNAs from uridylation activity and subsequent degradation. Stabilization of piRNAs is essential for gametogenesis.
Subcellular location. Cytoplasm.
Cofactor. Binds 1 Mg(2+) ion per subunit.
Similarity. Belongs to the methyltransferase superfamily. HEN1 family.
RefSeq proteins (2): NP_001096062, NP_653185 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026610 | Hen1 | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
Pfam: PF13489
Catalyzed reactions (Rhea), 1 shown:
- small RNA 3’-end nucleotide + S-adenosyl-L-methionine = small RNA 3’-end 2’-O-methylnucleotide + S-adenosyl-L-homocysteine + H(+) (RHEA:37887)
UniProt features (40 total): helix 12, binding site 10, strand 9, sequence variant 3, sequence conflict 2, chain 1, region of interest 1, compositionally biased region 1, turn 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5WY0 | X-RAY DIFFRACTION | 2 |
| 4XCX | X-RAY DIFFRACTION | 2.84 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5T8I9-F1 | 85.67 | 0.74 |
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 (10): 135; 136; 181; 36; 55; 78; 83; 115; 131; 132
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-5601884 | PIWI-interacting RNA (piRNA) biogenesis |
MSigDB gene sets: 79 (showing top):
GOBP_RNA_METHYLATION, GOBP_RNA_MODIFICATION, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, GOBP_PIRNA_PROCESSING, GOBP_METHYLATION, LIU_BREAST_CANCER, GOCC_RIBONUCLEOPROTEIN_GRANULE, GOCC_POLE_PLASM, GOMF_RNA_METHYLTRANSFERASE_ACTIVITY, GOMF_O_METHYLTRANSFERASE_ACTIVITY, GOMF_TRANSFERASE_ACTIVITY_TRANSFERRING_ONE_CARBON_GROUPS, MEISSNER_NPC_HCP_WITH_H3_UNMETHYLATED, MIKKELSEN_MEF_HCP_WITH_H3_UNMETHYLATED, MARTENS_TRETINOIN_RESPONSE_DN, GOBP_SIRNA_PROCESSING
GO Biological Process (5): RNA methylation (GO:0001510), siRNA processing (GO:0030422), piRNA processing (GO:0034587), regulatory ncRNA-mediated gene silencing (GO:0031047), methylation (GO:0032259)
GO Molecular Function (8): RNA binding (GO:0003723), O-methyltransferase activity (GO:0008171), RNA methyltransferase activity (GO:0008173), metal ion binding (GO:0046872), small RNA 2’-O-ribose methyltransferase activity (GO:0090486), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), P granule (GO:0043186)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Gene Silencing by RNA | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| regulatory ncRNA processing | 2 |
| methyltransferase activity | 2 |
| RNA modification | 1 |
| macromolecule methylation | 1 |
| negative regulation of gene expression | 1 |
| metabolic process | 1 |
| nucleic acid binding | 1 |
| catalytic activity, acting on RNA | 1 |
| cation binding | 1 |
| RNA 2’-O-methyltransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
| cytoplasmic ribonucleoprotein granule | 1 |
| germ plasm | 1 |
Protein interactions and networks
STRING
666 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| HENMT1 | PIWIL1 | Q96J94 | 825 |
| HENMT1 | PIWIL4 | Q7Z3Z4 | 813 |
| HENMT1 | TARBP2 | Q15633 | 787 |
| HENMT1 | DICER1 | Q9UPY3 | 764 |
| HENMT1 | PLD6 | Q8N2A8 | 732 |
| HENMT1 | AGO2 | Q9UKV8 | 726 |
| HENMT1 | PNLDC1 | Q8NA58 | 686 |
| HENMT1 | TDRKH | Q9Y2W6 | 683 |
| HENMT1 | AGO1 | Q9UL18 | 682 |
| HENMT1 | TDRD9 | Q8NDG6 | 668 |
| HENMT1 | AGO3 | Q9H9G7 | 649 |
| HENMT1 | AGO4 | Q9HCK5 | 648 |
| HENMT1 | PIWIL2 | Q8TC59 | 632 |
| HENMT1 | ZFP36 | P26651 | 613 |
| HENMT1 | DROSHA | Q9NRR4 | 609 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TRAF2 | HENMT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HENMT1 | TRAF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HENMT1 | CCDC74B | psi-mi:“MI:0915”(physical association) | 0.560 |
| INCA1 | HENMT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HENMT1 | tax | psi-mi:“MI:0915”(physical association) | 0.560 |
| tax | HENMT1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| HENMT1 | SNX2 | psi-mi:“MI:0914”(association) | 0.530 |
| HENMT1 | RAD51C | psi-mi:“MI:0914”(association) | 0.350 |
| HENMT1 | INCA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (18): HENMT1 (Two-hybrid), PECR (Affinity Capture-MS), MTHFD2L (Affinity Capture-MS), SNX6 (Affinity Capture-MS), KIF3A (Affinity Capture-MS), SNX2 (Affinity Capture-MS), SBF1 (Affinity Capture-MS), TXLNA (Affinity Capture-MS), RAD51C (Affinity Capture-MS), HENMT1 (Two-hybrid), INCA1 (Two-hybrid), SNX6 (Affinity Capture-MS), KIF3A (Affinity Capture-MS), MTHFD2L (Affinity Capture-MS), SBF1 (Affinity Capture-MS)
ESM2 similar proteins: A0A0R4IMY7, A0A0R4IY06, A0JPF9, A2AP18, A5PJN5, C0IN03, D2KX21, E1BVR9, E9PYK3, F1ND48, O00534, O75038, O94952, O95237, P0C1Q3, P53817, Q1LWG4, Q1LZ50, Q32PY6, Q4R3W5, Q4R6L3, Q5M7X9, Q5R5S1, Q5RJG7, Q5S6T3, Q5T8I9, Q6DC39, Q75WE7, Q7Z5M8, Q7ZU92, Q8BYI6, Q8C0L6, Q8CAE2, Q8CAS9, Q8K3R3, Q8NHH9, Q8SPR7, Q8VDH1, Q90678, Q93V51
Diamond homologs: C0IN03, E1BVR9, H9JDT2, P34283, Q230X8, Q32PY6, Q4R3W5, Q568P9, Q5T8I9, Q7K175, Q8CAE2, Q9C5Q8, Q9UST9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
75 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 56 |
| Likely benign | 7 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1328955 | NM_001102592.2(HENMT1):c.226G>A (p.Gly76Arg) | Pathogenic |
| 1328956 | NM_001102592.2(HENMT1):c.456C>G (p.Tyr152Ter) | Pathogenic |
SpliceAI
1140 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:108650207:TCAC:T | donor_loss | 1.0000 |
| 1:108650208:CAC:C | donor_loss | 1.0000 |
| 1:108650209:A:AC | donor_gain | 1.0000 |
| 1:108650209:ACAG:A | donor_gain | 1.0000 |
| 1:108650210:C:CC | donor_gain | 1.0000 |
| 1:108650210:C:CG | donor_loss | 1.0000 |
| 1:108650210:CA:C | donor_gain | 1.0000 |
| 1:108650210:CAG:C | donor_gain | 1.0000 |
| 1:108650210:CAGC:C | donor_gain | 1.0000 |
| 1:108650210:CAGCT:C | donor_gain | 1.0000 |
| 1:108650265:T:A | donor_gain | 1.0000 |
| 1:108650384:AAGCC:A | acceptor_gain | 1.0000 |
| 1:108650385:AGCC:A | acceptor_gain | 1.0000 |
| 1:108650386:GCC:G | acceptor_gain | 1.0000 |
| 1:108650387:CC:C | acceptor_gain | 1.0000 |
| 1:108650387:CCC:C | acceptor_gain | 1.0000 |
| 1:108650387:CCCTG:C | acceptor_loss | 1.0000 |
| 1:108650388:CC:C | acceptor_gain | 1.0000 |
| 1:108650389:C:CC | acceptor_gain | 1.0000 |
| 1:108650389:C:T | acceptor_gain | 1.0000 |
| 1:108650390:T:A | acceptor_loss | 1.0000 |
| 1:108650396:C:T | acceptor_gain | 1.0000 |
| 1:108651205:CTATT:C | acceptor_gain | 1.0000 |
| 1:108654714:A:AC | donor_gain | 1.0000 |
| 1:108654715:C:CC | donor_gain | 1.0000 |
| 1:108654715:CA:C | donor_gain | 1.0000 |
| 1:108654715:CAA:C | donor_gain | 1.0000 |
| 1:108654715:CAAT:C | donor_gain | 1.0000 |
| 1:108654715:CAATT:C | donor_gain | 1.0000 |
| 1:108657575:CTGCA:C | acceptor_gain | 1.0000 |
AlphaMissense
2562 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:108651125:G:C | S161R | 0.998 |
| 1:108651125:G:T | S161R | 0.998 |
| 1:108651127:T:G | S161R | 0.998 |
| 1:108651107:G:C | F167L | 0.996 |
| 1:108651107:G:T | F167L | 0.996 |
| 1:108651109:A:G | F167L | 0.996 |
| 1:108651059:A:C | F183L | 0.995 |
| 1:108651059:A:T | F183L | 0.995 |
| 1:108651061:A:G | F183L | 0.995 |
| 1:108651203:T:A | E135D | 0.995 |
| 1:108651203:T:G | E135D | 0.995 |
| 1:108651055:A:G | W185R | 0.994 |
| 1:108651055:A:T | W185R | 0.994 |
| 1:108654719:T:A | E132V | 0.994 |
| 1:108651204:T:A | E135V | 0.993 |
| 1:108650298:A:C | C223W | 0.992 |
| 1:108651056:C:A | E184D | 0.992 |
| 1:108651056:C:G | E184D | 0.992 |
| 1:108651077:T:A | R177S | 0.992 |
| 1:108651077:T:G | R177S | 0.992 |
| 1:108650281:A:G | F229S | 0.990 |
| 1:108651116:G:C | N164K | 0.990 |
| 1:108651116:G:T | N164K | 0.990 |
| 1:108651200:A:C | H136Q | 0.990 |
| 1:108651200:A:T | H136Q | 0.990 |
| 1:108657520:A:C | F27L | 0.990 |
| 1:108657520:A:T | F27L | 0.990 |
| 1:108657522:A:G | F27L | 0.990 |
| 1:108651067:G:C | H181D | 0.989 |
| 1:108651078:C:G | R177T | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000149852 (1:108662199 C>G,T), RS1000233564 (1:108657756 G>GT), RS1000237633 (1:108656864 T>C,G), RS1000663176 (1:108661670 C>T), RS1000820354 (1:108661883 G>A,T), RS1000870603 (1:108650926 G>C), RS1001018769 (1:108661118 A>G), RS1001186517 (1:108655204 T>C), RS1001258485 (1:108655429 A>G), RS1001535002 (1:108661272 G>C), RS1002133237 (1:108660182 T>A,C,G), RS1002178824 (1:108658925 G>C), RS1002187304 (1:108653704 T>C), RS1002264491 (1:108653973 T>C), RS1002303705 (1:108653074 C>T)
Disease associations
OMIM: gene MIM:612178 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): azoospermia (MONDO:0100459), male infertility (MONDO:0005372)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D053713 | Azoospermia | C12.100.500.430.380; C12.100.750.700.380; C12.200.294.430.380 |
| D007248 | Infertility, Male | C12.100.500.430; C12.100.750.700; C12.200.294.430 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases expression | 6 |
| methylmercuric chloride | increases expression | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | affects cotreatment, increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| 4-aminophenylarsenoxide | affects binding, decreases reaction | 1 |
| avobenzone | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Arsenic Trioxide | affects binding, decreases reaction | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diazinon | increases methylation | 1 |
| Hydralazine | affects cotreatment, increases expression | 1 |
| Indomethacin | affects cotreatment, increases expression | 1 |
| Thimerosal | increases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, increases 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_B1TI | Abcam HeLa HENMT1 KO | Cancer cell line | Female |
Clinical trials (associated diseases)
150 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT02307994 | PHASE4 | UNKNOWN | Clinical Research on Effectiveness and Safety of Treatment of Severe Oligospermia or Azoospermia With uFSH |
| NCT02202382 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Male Infertility |
| NCT02204826 | PHASE4 | COMPLETED | Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study |
| NCT03802864 | PHASE4 | COMPLETED | Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine |
| NCT06100432 | PHASE4 | ACTIVE_NOT_RECRUITING | Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males |
| NCT07523022 | PHASE4 | ENROLLING_BY_INVITATION | Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups |
| NCT02275169 | PHASE3 | UNKNOWN | FSH Treatment for Non-obstructive Azoospermic Patients |
| NCT00975117 | PHASE3 | COMPLETED | Spermotrend in the Treatment of Male Infertility |
| NCT01407432 | PHASE3 | COMPLETED | Impact of Folates in the Care of the Male Infertility |
| NCT01895816 | PHASE3 | COMPLETED | Herbal Tonic Fertile Supplement(ZO2C5) |
| NCT02605070 | PHASE3 | TERMINATED | Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia |
| NCT07402759 | PHASE3 | ACTIVE_NOT_RECRUITING | Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men |
| NCT02544191 | PHASE2 | UNKNOWN | GnRHa Combined With hCG and hMG for Treatment of Patients With Non-obstructive Azoospermia |
| NCT03762967 | PHASE2 | UNKNOWN | Autologous Adipose-Derived Adult Stromal Vascular Cell Administration for Male Patients With Infertility |
| NCT01880086 | PHASE2 | COMPLETED | Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration |
| NCT02061384 | PHASE2 | COMPLETED | RA-2 13-cis Retinoic Acid (Isotretinoin) |
| NCT02421887 | PHASE2 | COMPLETED | Males, Antioxidants, and Infertility Trial |
| NCT05200663 | PHASE2 | UNKNOWN | Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility |
| NCT05290558 | PHASE2 | ACTIVE_NOT_RECRUITING | The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial |
| NCT06091969 | PHASE2 | NOT_YET_RECRUITING | Supplementation for Male Subfertility |
| NCT01595308 | PHASE1 | COMPLETED | A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers |
| NCT02122211 | PHASE1 | COMPLETED | Choline Dehydrogenase and Sperm Function: Effects of Betaine |
| NCT02575924 | PHASE1 | UNKNOWN | Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility |
| NCT02041910 | PHASE1/PHASE2 | UNKNOWN | Testicular Injection of Autologous Stem Cells for Treatment of Patients With Azoospermia |
| NCT00282477 | Not specified | UNKNOWN | Trial to Evaluate Erectile Function, Fertility and Sperm Count in Male Cyclists Compared to Age Matched Controls |
| NCT00484081 | Not specified | COMPLETED | Microdissection Testicular Sperm Extraction (MicroTESE) and IVF-ICSI Outcome in Non-Obstructive Azoospermia (NOA) |
| NCT00548977 | Not specified | COMPLETED | Genetic Studies Spermatogenic Failure |
| NCT01375062 | Not specified | COMPLETED | Obtaining Undifferentiated Cells From Testis Biopsy |
| NCT01509482 | Not specified | COMPLETED | Insulin Resistance in Idiopathic Oligospermia and Azoospermia |
| NCT02008799 | Not specified | UNKNOWN | Intra Testicular Artery Injection of Bone Marrow Stem Cell in Management of Azoospermia |
| NCT02339272 | Not specified | COMPLETED | Study of Synapsis and Recombination in Male Meiosis and the Implications in Infertility |
| NCT02414295 | Not specified | COMPLETED | Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection |
| NCT02418832 | Not specified | RECRUITING | Testis Needle Aspiration of Sperm in Men With Azoospermia |
| NCT02617173 | Not specified | UNKNOWN | The Effect of Low Electrical Current on Testicular Spermatocyte Count |
| NCT02773498 | Not specified | TERMINATED | Comparison of Medical Results of Testicular Sperm Extraction by Conventional Surgery and Microsurgical Track |
| NCT03497728 | Not specified | TERMINATED | Detection of Microdeletions in the Azoospermia Factor (AZF) Regions in Infertile Male Patients |
| NCT04675164 | Not specified | COMPLETED | Laser Assisted Sperm Selection of Viable Immotile Testicular Sperm in Azoospermic Infertile Men |
| NCT05479474 | Not specified | RECRUITING | Platelet Rich Plasma Testis Treatment for Infertile Men |
| NCT05628987 | Not specified | RECRUITING | The Association of Gut Microbiota and Spermatogenic Dysfunction |
| NCT05866484 | Not specified | COMPLETED | Testicular Sperm Aspiration (TESA) vs. Microfluidic Sperm Separation (MSS) |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): azoospermia, male infertility