METTL15
gene geneOn this page
Also known as FLJ33979
Summary
METTL15 (methyltransferase 15, mitochondrial 12S rRNA N4-cytidine, HGNC:26606) is a protein-coding gene on chromosome 11p14.1, encoding 12S rRNA N(4)-cytidine methyltransferase METTL15 (A6NJ78). N4-methylcytidine (m4C) methyltransferase responsible for the methylation of position C839 in mitochondrial 12S rRNA. It is a selective cancer dependency (DepMap: 25.4% of cell lines).
Enables rRNA (cytosine-N4-)-methyltransferase activity. Involved in rRNA base methylation. Is active in mitochondrial matrix.
Source: NCBI Gene 196074 — RefSeq curated summary.
At a glance
- GWAS associations: 26
- Clinical variants (ClinVar): 72 total
- Cancer dependency (DepMap): dependent in 25.4% of screened cell lines
- MANE Select transcript:
NM_001113528
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26606 |
| Approved symbol | METTL15 |
| Name | methyltransferase 15, mitochondrial 12S rRNA N4-cytidine |
| Location | 11p14.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ33979 |
| Ensembl gene | ENSG00000169519 |
| Ensembl biotype | protein_coding |
| OMIM | 618711 |
| Entrez | 196074 |
Gene structure
Transcript identifiers
Ensembl transcripts: 17 — 11 protein_coding, 5 nonsense_mediated_decay, 1 retained_intron
ENST00000303459, ENST00000403099, ENST00000406787, ENST00000407364, ENST00000437814, ENST00000451385, ENST00000468295, ENST00000532947, ENST00000634627, ENST00000634721, ENST00000634762, ENST00000634973, ENST00000886889, ENST00000886890, ENST00000886891, ENST00000886892, ENST00000954982
RefSeq mRNA: 3 — MANE Select: NM_001113528
NM_001113528, NM_001297775, NM_152636
CCDS: CCDS31450, CCDS44559, CCDS73269
Canonical transcript exons
ENST00000407364 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001554114 | 28110166 | 28110401 |
| ENSE00001562480 | 28108388 | 28108452 |
| ENSE00002172085 | 28113318 | 28113604 |
| ENSE00003460501 | 28290206 | 28290397 |
| ENSE00003558262 | 28211062 | 28211198 |
| ENSE00003577865 | 28330396 | 28333507 |
| ENSE00003646324 | 28296753 | 28296931 |
Expression profiles
Bgee: expression breadth ubiquitous, 238 present calls, max score 89.55.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 19.2699 / max 322.0710, expressed in 1800 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 113558 | 13.4282 | 1777 |
| 113557 | 5.8416 | 1608 |
Top tissues by expression
250 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 89.55 | gold quality |
| calcaneal tendon | UBERON:0003701 | 88.86 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 88.44 | silver quality |
| kidney epithelium | UBERON:0004819 | 86.17 | silver quality |
| colonic epithelium | UBERON:0000397 | 84.72 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 84.46 | gold quality |
| tibialis anterior | UBERON:0001385 | 84.07 | silver quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.26 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 82.19 | gold quality |
| islet of Langerhans | UBERON:0000006 | 81.90 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 81.24 | gold quality |
| muscle of leg | UBERON:0001383 | 80.86 | gold quality |
| rectum | UBERON:0001052 | 80.78 | gold quality |
| tendon | UBERON:0000043 | 80.75 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 80.69 | gold quality |
| gastrocnemius | UBERON:0001388 | 80.58 | gold quality |
| adrenal gland | UBERON:0002369 | 80.16 | gold quality |
| right adrenal gland | UBERON:0001233 | 80.01 | gold quality |
| right uterine tube | UBERON:0001302 | 79.99 | gold quality |
| left adrenal gland | UBERON:0001234 | 79.78 | gold quality |
| bone marrow cell | CL:0002092 | 79.76 | gold quality |
| ventricular zone | UBERON:0003053 | 79.74 | gold quality |
| deltoid | UBERON:0001476 | 79.39 | silver quality |
| tibial artery | UBERON:0007610 | 79.34 | gold quality |
| popliteal artery | UBERON:0002250 | 79.33 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 79.29 | gold quality |
| pancreas | UBERON:0001264 | 79.16 | gold quality |
| stromal cell of endometrium | CL:0002255 | 78.72 | gold quality |
| adrenal cortex | UBERON:0001235 | 78.37 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 78.30 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-46 | yes | 15.61 |
| E-ANND-3 | yes | 5.76 |
| E-MTAB-6142 | no | 81.95 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
123 targeting METTL15, 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-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-568 | 99.98 | 69.86 | 2084 |
| HSA-MIR-4803 | 99.98 | 71.99 | 3117 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-539-5P | 99.93 | 70.30 | 2855 |
| HSA-MIR-515-5P | 99.92 | 69.82 | 2343 |
| HSA-MIR-519E-5P | 99.92 | 69.62 | 2358 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 25.4% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 3)
- The human mitochondrial 12S rRNA m(4)C methyltransferase METTL15 is required for mitochondrial function. (PMID:32371392)
- Circular RNA METTL15/miR-374a-5p/ESCO2 axis induces colorectal cancer development. (PMID:37715994)
- The catalytic activity of methyltransferase METTL15 is dispensable for its role in mitochondrial ribosome biogenesis. (PMID:38913872)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mettl15 | ENSDARG00000089236 |
| mus_musculus | Mettl15 | ENSMUSG00000057234 |
| rattus_norvegicus | Mettl15 | ENSRNOG00000066683 |
| drosophila_melanogaster | CG14683 | FBGN0037822 |
Protein
Protein identifiers
12S rRNA N(4)-cytidine methyltransferase METTL15 — A6NJ78 (reviewed: A6NJ78)
Alternative names: Methyltransferase 5 domain-containing protein 1, Methyltransferase-like protein 15
All UniProt accessions (7): A0A0U1RR64, A0A0U1RR76, A0A0U1RRD2, A0A0U1RRF2, A6NJ78, B5MC64, F8WD83
UniProt curated annotations — full annotation on UniProt →
Function. N4-methylcytidine (m4C) methyltransferase responsible for the methylation of position C839 in mitochondrial 12S rRNA. Involved in the stabilization of 12S rRNA folding, therefore facilitating the assembly of the mitochondrial small ribosomal subunits.
Subcellular location. Mitochondrion matrix.
Similarity. Belongs to the methyltransferase superfamily. RsmH family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| A6NJ78-1 | 1 | yes |
| A6NJ78-2 | 2 | |
| A6NJ78-3 | 3 | |
| A6NJ78-4 | 4 |
RefSeq proteins (3): NP_001107000, NP_001284704, NP_689849 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002903 | RsmH | Family |
| IPR023397 | SAM-dep_MeTrfase_MraW_recog | Homologous_superfamily |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
Pfam: PF01795
Catalyzed reactions (Rhea), 1 shown:
- cytidine(839) in 12S rRNA + S-adenosyl-L-methionine = N(4)-methylcytidine(839) in 12S rRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:62524)
UniProt features (52 total): helix 19, strand 8, splice variant 6, binding site 5, sequence variant 3, mutagenesis site 3, turn 3, sequence conflict 2, transit peptide 1, chain 1, modified residue 1
Structure
Experimental structures (PDB)
13 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 8IPK | X-RAY DIFFRACTION | 1.9 |
| 8IPI | X-RAY DIFFRACTION | 2.1 |
| 8IPL | X-RAY DIFFRACTION | 2.2 |
| 7PNX | ELECTRON MICROSCOPY | 2.76 |
| 9G5C | ELECTRON MICROSCOPY | 3 |
| 9G5D | ELECTRON MICROSCOPY | 3 |
| 7PNY | ELECTRON MICROSCOPY | 3.06 |
| 7PNZ | ELECTRON MICROSCOPY | 3.09 |
| 8IPM | X-RAY DIFFRACTION | 3.1 |
| 9H51 | ELECTRON MICROSCOPY | 3.1 |
| 8QRL | ELECTRON MICROSCOPY | 3.34 |
| 9IGU | ELECTRON MICROSCOPY | 3.64 |
| 9IGT | ELECTRON MICROSCOPY | 5.96 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-A6NJ78-F1 | 79.90 | 0.65 |
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 (5): 100–102; 119; 146; 169; 176
Post-translational modifications (1): 358
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 98–101 | abolished methylation of 12s rrna position c839. |
| 119–120 | absence of methylation of 12s rrna position c839 and decreased methylation at position c841. |
| 298 | decreased methylation of 12s rrna positions c839 and c841. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 157 (showing top):
GOBP_RIBOSOME_BIOGENESIS, GOBP_RIBOSOME_ASSEMBLY, GOBP_RNA_METHYLATION, GOBP_RNA_MODIFICATION, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION, GOBP_ORGANELLE_ASSEMBLY, CCCAGAG_MIR326, GOBP_RRNA_MODIFICATION, GOBP_METHYLATION, GOBP_RIBONUCLEOPROTEIN_COMPLEX_BIOGENESIS, GOBP_RIBOSOMAL_SMALL_SUBUNIT_ASSEMBLY, GOBP_RRNA_METHYLATION, NUYTTEN_EZH2_TARGETS_DN, GOCC_MITOCHONDRIAL_MATRIX
GO Biological Process (3): rRNA base methylation (GO:0070475), mitochondrial small ribosomal subunit assembly (GO:0180026), methylation (GO:0032259)
GO Molecular Function (4): rRNA (cytosine-N4-)-methyltransferase activity (GO:0071424), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)
GO Cellular Component (3): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| rRNA methylation | 1 |
| ribosomal small subunit assembly | 1 |
| mitochondrial ribosome assembly | 1 |
| metabolic process | 1 |
| N-methyltransferase activity | 1 |
| rRNA (cytosine) methyltransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular membrane-bounded organelle | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1794 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| METTL15 | TRMT2B | Q96GJ1 | 695 |
| METTL15 | MRM3 | Q9HC36 | 693 |
| METTL15 | NSUN4 | Q96CB9 | 650 |
| METTL15 | METTL5 | Q9NRN9 | 644 |
| METTL15 | TFB1M | Q8WVM0 | 609 |
| METTL15 | RPUSD4 | Q96CM3 | 602 |
| METTL15 | RBFA | Q8N0V3 | 592 |
| METTL15 | MRM1 | Q6IN84 | 584 |
| METTL15 | METTL17 | Q9H7H0 | 581 |
| METTL15 | MRM2 | Q9UI43 | 570 |
| METTL15 | METTL16 | Q86W50 | 563 |
| METTL15 | DIMT1 | Q9UNQ2 | 547 |
| METTL15 | METTL1 | Q9UBP6 | 539 |
| METTL15 | MPV17L2 | Q567V2 | 532 |
| METTL15 | ERAL1 | O75616 | 520 |
IntAct
107 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KBTBD7 | METTL15 | psi-mi:“MI:0914”(association) | 0.730 |
| CFTR | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.710 |
| KLHL22 | TMEM223 | psi-mi:“MI:0914”(association) | 0.640 |
| KLHL22 | METTL15 | psi-mi:“MI:0914”(association) | 0.640 |
| METTL15 | MVB12B | psi-mi:“MI:0915”(physical association) | 0.590 |
| MAS1 | POTEF | psi-mi:“MI:0914”(association) | 0.530 |
| GYPB | TCAF2 | psi-mi:“MI:0914”(association) | 0.530 |
| CD79A | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| APLNR | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC15A1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| IL13RA2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| RBFA | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| KIR3DL2 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC2A12 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| EMILIN1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| LAMP3 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| LIPT1 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| CXCR4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
BioGRID (317): METTL15 (Two-hybrid), MVB12B (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS), METTL15 (Affinity Capture-MS)
ESM2 similar proteins: A0JN95, A4IF87, A6NJ78, B5DEQ3, B7ZMP1, D3ZLY0, E9Q4Z2, F1QDI9, G1SPE9, O14717, O15228, O22268, O55055, O95453, O95671, P37287, P69341, P97770, Q05B63, Q08J23, Q0V8R7, Q0VGM9, Q10D00, Q1HFZ0, Q2T9W2, Q4G073, Q5R5T5, Q5R962, Q5R9W8, Q5RC51, Q5RJZ1, Q6GR37, Q6H1L8, Q6NYU2, Q6YJI5, Q7TNK6, Q7YS61, Q7Z4G4, Q8JZM0, Q8R2Y8
Diamond homologs: A0JN95, A0L5N9, A1AU69, A1AZK1, A1UTD3, A3PHR7, A4WQC5, A5EPL2, A5FUK2, A5G8K8, A5VDD4, A5VRI5, A6NJ78, A6WZP8, A7HVT9, A7IGF4, A8GP28, A8GVV6, A8HZ68, A8LSB5, A9H0G9, A9M698, A9VW37, A9WG80, B0CHM8, B0T839, B0TGB2, B0UFI0, B0X4T2, B1LYT9, B1Z8U3, B2IGF2, B2S6R2, B3E3Z0, B3QFN9, B4RFS8, B6IRH0, B6JCF0, B7KU77, B8G5X3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
72 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 63 |
| Likely benign | 5 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3851 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:28108451:GGGT:G | donor_gain | 1.0000 |
| 11:28108452:GGTG:G | donor_gain | 1.0000 |
| 11:28211060:A:AG | acceptor_gain | 1.0000 |
| 11:28211061:G:GT | acceptor_gain | 1.0000 |
| 11:28211061:GA:G | acceptor_gain | 1.0000 |
| 11:28211061:GAT:G | acceptor_gain | 1.0000 |
| 11:28211061:GATT:G | acceptor_gain | 1.0000 |
| 11:28211061:GATTT:G | acceptor_gain | 1.0000 |
| 11:28211194:TATCC:T | donor_gain | 1.0000 |
| 11:28211195:ATCC:A | donor_gain | 1.0000 |
| 11:28211195:ATCCG:A | donor_loss | 1.0000 |
| 11:28211196:TCC:T | donor_gain | 1.0000 |
| 11:28211197:CC:C | donor_gain | 1.0000 |
| 11:28211198:CG:C | donor_loss | 1.0000 |
| 11:28211199:G:GG | donor_gain | 1.0000 |
| 11:28211199:GTAA:G | donor_loss | 1.0000 |
| 11:28211200:T:TC | donor_loss | 1.0000 |
| 11:28211201:A:AG | donor_loss | 1.0000 |
| 11:28290191:T:A | acceptor_gain | 1.0000 |
| 11:28290192:G:A | acceptor_gain | 1.0000 |
| 11:28290204:A:AG | acceptor_gain | 1.0000 |
| 11:28290205:G:GA | acceptor_gain | 1.0000 |
| 11:28290396:AGG:A | donor_loss | 1.0000 |
| 11:28290397:GGT:G | donor_loss | 1.0000 |
| 11:28290398:G:GA | donor_loss | 1.0000 |
| 11:28290399:T:G | donor_loss | 1.0000 |
| 11:28296927:TGCAG:T | donor_loss | 1.0000 |
| 11:28296928:GCAG:G | donor_loss | 1.0000 |
| 11:28296929:CAG:C | donor_loss | 1.0000 |
| 11:28296930:AGGTA:A | donor_loss | 1.0000 |
AlphaMissense
2657 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:28290348:T:C | F184L | 0.998 |
| 11:28290350:T:A | F184L | 0.998 |
| 11:28290350:T:G | F184L | 0.998 |
| 11:28330578:T:C | F321L | 0.998 |
| 11:28330580:C:A | F321L | 0.998 |
| 11:28330580:C:G | F321L | 0.998 |
| 11:28330591:A:T | E325V | 0.997 |
| 11:28290349:T:C | F184S | 0.996 |
| 11:28330592:G:C | E325D | 0.996 |
| 11:28330592:G:T | E325D | 0.996 |
| 11:28330606:A:T | K330I | 0.996 |
| 11:28296926:T:A | V258D | 0.995 |
| 11:28330496:C:A | N293K | 0.995 |
| 11:28330496:C:G | N293K | 0.995 |
| 11:28330813:C:A | A399D | 0.995 |
| 11:28290234:T:C | F146L | 0.994 |
| 11:28290236:C:A | F146L | 0.994 |
| 11:28290236:C:G | F146L | 0.994 |
| 11:28290305:T:A | D169E | 0.994 |
| 11:28290305:T:G | D169E | 0.994 |
| 11:28330470:T:C | F285L | 0.994 |
| 11:28330472:C:A | F285L | 0.994 |
| 11:28330472:C:G | F285L | 0.994 |
| 11:28330593:G:C | D326H | 0.994 |
| 11:28330594:A:C | D326A | 0.994 |
| 11:28290385:T:C | M196T | 0.993 |
| 11:28330459:C:A | A281D | 0.993 |
| 11:28330597:G:C | R327P | 0.993 |
| 11:28290304:A:C | D169A | 0.992 |
| 11:28290386:G:A | M196I | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000004230 (11:28327806 C>A), RS1000006181 (11:28285582 A>G,T), RS1000013594 (11:28219960 T>C), RS1000014506 (11:28171437 G>A,T), RS1000020002 (11:28418713 C>T), RS1000024101 (11:28355359 A>G), RS1000047587 (11:28331133 G>A,T), RS1000058725 (11:28250282 C>A,G,T), RS1000069978 (11:28286101 C>A,G,T), RS1000083884 (11:28510000 A>G), RS1000083937 (11:28163474 T>C), RS1000091385 (11:28158455 A>C), RS1000092410 (11:28208022 A>G), RS1000100712 (11:28294982 G>A,C), RS1000102197 (11:28464438 G>T)
Disease associations
OMIM: gene MIM:618711 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001762_711 | Obesity-related traits | 9.000000e-06 |
| GCST006291_48 | Spherical equivalent or myopia (age of diagnosis) | 1.000000e-11 |
| GCST007094_40 | Diastolic blood pressure | 1.000000e-06 |
| GCST007099_157 | Systolic blood pressure | 3.000000e-08 |
| GCST007323_16 | Risk-taking tendency (4-domain principal component model) | 8.000000e-09 |
| GCST007323_92 | Risk-taking tendency (4-domain principal component model) | 1.000000e-09 |
| GCST007324_143 | Adventurousness | 3.000000e-10 |
| GCST007325_186 | General risk tolerance (MTAG) | 1.000000e-08 |
| GCST007325_37 | General risk tolerance (MTAG) | 4.000000e-08 |
| GCST007325_74 | General risk tolerance (MTAG) | 6.000000e-10 |
| GCST007326_13 | Number of sexual partners | 2.000000e-08 |
| GCST007326_80 | Number of sexual partners | 4.000000e-08 |
| GCST007327_174 | Smoking status (ever vs never smokers) | 5.000000e-13 |
| GCST007559_11 | Sleep duration (short sleep) | 2.000000e-09 |
| GCST007576_181 | Chronotype | 6.000000e-10 |
| GCST008156_66 | Hip circumference adjusted for BMI | 4.000000e-06 |
| GCST009363_50 | Triglyceride levels x short total sleep time interaction (2df test) | 2.000000e-08 |
| GCST009380_4 | Type 2 diabetes (adjusted for BMI) | 5.000000e-08 |
| GCST009725_80 | Intraocular pressure | 2.000000e-07 |
| GCST010002_233 | Refractive error | 7.000000e-16 |
| GCST010463_21 | Childhood ALL/LBL (acute lymphoblastic leukemia/lymphoblastic lymphoma) treatment-related venous thromboembolism | 5.000000e-06 |
| GCST010989_94 | Body size at age 10 | 1.000000e-09 |
| GCST010989_95 | Body size at age 10 | 3.000000e-11 |
| GCST011494_54 | Daytime nap | 4.000000e-10 |
| GCST012090_37 | Major depressive disorder (MTAG) | 3.000000e-10 |
| GCST90002409_22 | Childhood body mass index | 5.000000e-07 |
EFO canonical traits (13, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003939 | energy intake |
| EFO:0004847 | age at onset |
| EFO:0006336 | diastolic blood pressure |
| EFO:0006335 | systolic blood pressure |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0008328 | chronotype measurement |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004530 | triglyceride measurement |
| EFO:0004695 | intraocular pressure measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
| EFO:0007828 | daytime rest measurement |
| EFO:0004340 | body mass index |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
28 total (human), top 28 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| beta-lapachone | decreases expression | 1 |
| mono-(2-ethylhexyl)phthalate | increases abundance, increases methylation | 1 |
| sodium arsenite | affects cotreatment, decreases expression, increases abundance | 1 |
| manganese chloride | affects cotreatment, decreases expression, increases abundance | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| jinfukang | decreases expression | 1 |
| Arsenic | affects cotreatment, decreases expression, increases abundance | 1 |
| Atrazine | decreases expression | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Diethylhexyl Phthalate | increases abundance, increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Herbicides | affects methylation, increases abundance | 1 |
| Hydrogen Peroxide | affects cotreatment, increases expression | 1 |
| Manganese | affects cotreatment, decreases expression, increases abundance | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Picloram | increases abundance, affects methylation | 1 |
| Ribonucleotides | affects binding | 1 |
| Rotenone | decreases expression | 1 |
| Theophylline | affects cotreatment, increases expression | 1 |
| Urethane | increases expression | 1 |
| Valproic Acid | decreases methylation, increases expression | 1 |
| Aflatoxin B1 | decreases expression, increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SX94 | HAP1 METTL15 (-) 1 | Cancer cell line | Male |
| CVCL_SX95 | HAP1 METTL15 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.