METTL9
gene geneOn this page
Also known as DREV1
Summary
METTL9 (methyltransferase 9, His-X-His N1(pi)-histidine, HGNC:24586) is a protein-coding gene on chromosome 16p12.2, encoding Protein-L-histidine N-pros-methyltransferase (Q9H1A3). Protein-histidine N-methyltransferase that specifically catalyzes 1-methylhistidine (pros-methylhistidine) methylation of target proteins.
Enables protein-L-histidine N-pros-methyltransferase activity. Predicted to be involved in methylation. Is active in endoplasmic reticulum and mitochondrion.
Source: NCBI Gene 51108 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 26 total — 2 pathogenic
- MANE Select transcript:
NM_016025
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24586 |
| Approved symbol | METTL9 |
| Name | methyltransferase 9, His-X-His N1(pi)-histidine |
| Location | 16p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DREV1 |
| Ensembl gene | ENSG00000197006 |
| Ensembl biotype | protein_coding |
| OMIM | 609388 |
| Entrez | 51108 |
Gene structure
Transcript identifiers
Ensembl transcripts: 13 — 9 protein_coding, 2 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000358154, ENST00000396014, ENST00000562379, ENST00000562961, ENST00000563026, ENST00000564733, ENST00000567404, ENST00000568826, ENST00000569290, ENST00000570074, ENST00000873751, ENST00000873752, ENST00000917718
RefSeq mRNA: 4 — MANE Select: NM_016025
NM_001077180, NM_001288659, NM_001288660, NM_016025
CCDS: CCDS10598, CCDS45440
Canonical transcript exons
ENST00000358154 — 5 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001908492 | 21599577 | 21599898 |
| ENSE00003518508 | 21617865 | 21618074 |
| ENSE00003551432 | 21612645 | 21612835 |
| ENSE00003785518 | 21624931 | 21625115 |
| ENSE00003844205 | 21655227 | 21657471 |
Expression profiles
Bgee: expression breadth ubiquitous, 288 present calls, max score 99.44.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 79.9190 / max 3778.2017, expressed in 1824 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 153108 | 78.2892 | 1824 |
| 153107 | 0.8696 | 595 |
| 153111 | 0.4280 | 156 |
| 153113 | 0.2293 | 89 |
| 153112 | 0.0590 | 27 |
| 153105 | 0.0437 | 21 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 99.44 | gold quality |
| parotid gland | UBERON:0001831 | 99.14 | gold quality |
| nephron tubule | UBERON:0001231 | 99.05 | gold quality |
| monocyte | CL:0000576 | 99.03 | gold quality |
| mononuclear cell | CL:0000842 | 99.03 | gold quality |
| leukocyte | CL:0000738 | 98.95 | gold quality |
| cortical plate | UBERON:0005343 | 98.80 | gold quality |
| ganglionic eminence | UBERON:0004023 | 98.72 | gold quality |
| oocyte | CL:0000023 | 98.67 | gold quality |
| trabecular bone tissue | UBERON:0002483 | 98.66 | gold quality |
| embryo | UBERON:0000922 | 98.64 | gold quality |
| adrenal tissue | UBERON:0018303 | 98.61 | gold quality |
| corpus epididymis | UBERON:0004359 | 98.56 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 98.55 | gold quality |
| bone marrow | UBERON:0002371 | 98.42 | gold quality |
| renal medulla | UBERON:0000362 | 98.39 | gold quality |
| caput epididymis | UBERON:0004358 | 98.37 | gold quality |
| kidney epithelium | UBERON:0004819 | 98.37 | gold quality |
| ventricular zone | UBERON:0003053 | 98.30 | gold quality |
| renal glomerulus | UBERON:0000074 | 98.15 | gold quality |
| oral cavity | UBERON:0000167 | 98.13 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 98.11 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 98.07 | gold quality |
| cervix epithelium | UBERON:0004801 | 98.07 | gold quality |
| mammalian vulva | UBERON:0000997 | 98.03 | gold quality |
| amniotic fluid | UBERON:0000173 | 97.96 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.84 | gold quality |
| kidney | UBERON:0002113 | 97.83 | gold quality |
| metanephros | UBERON:0000081 | 97.80 | gold quality |
| blood | UBERON:0000178 | 97.80 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-112 | yes | 24.67 |
| E-HCAD-10 | yes | 18.49 |
| E-MTAB-9689 | no | 451.65 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
126 targeting METTL9, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-548J-3P | 99.94 | 72.61 | 4881 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
Literature-anchored findings (GeneRIF, showing 5)
- cloned the PAP1 gene, a p53 activated protein, from a U251-pTet-p53 cell line which carried a wild-type p53 transgene. (PMID:16837177)
- The methyltransferase METTL9 mediates pervasive 1-methylhistidine modification in mammalian proteomes. (PMID:33563959)
- METTL9 mediated N1-histidine methylation of zinc transporters is required for tumor growth. (PMID:34218407)
- siRNA screening identifies METTL9 as a histidine Npi-methyltransferase that targets the proinflammatory protein S100A9. (PMID:34562450)
- METTL9 derived circular RNA circ-METTL9 sponges miR-551b-5p to accelerate colorectal cancer progression by upregulating CDK6. (PMID:37158456)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mettl9 | ENSDARG00000060001 |
| mus_musculus | Mettl9 | ENSMUSG00000030876 |
| rattus_norvegicus | Mettl9 | ENSRNOG00000025940 |
| drosophila_melanogaster | CG5339 | FBGN0034925 |
| caenorhabditis_elegans | WBGENE00020199 |
Protein
Protein identifiers
Protein-L-histidine N-pros-methyltransferase — Q9H1A3 (reviewed: Q9H1A3)
Alternative names: DORA reverse strand protein, Methyltransferase-like protein 9
All UniProt accessions (7): Q9H1A3, H3BM54, H3BN86, H3BPE9, H3BQD2, H3BRP5, H3BTS9
UniProt curated annotations — full annotation on UniProt →
Function. Protein-histidine N-methyltransferase that specifically catalyzes 1-methylhistidine (pros-methylhistidine) methylation of target proteins. Specifically methylates the second His of proteins with a His-x-His (HxH) motif (where ‘x’ is preferably a small amino acid), while exploiting the first one as a recognition signature. Catalyzes methylation of target proteins such as S100A9, NDUFB3, SLC39A5, SLC39A7, ARMC6 and DNAJB12; 1-methylhistidine modification may affect the binding of zinc and other metals to its target proteins. Constitutes the main methyltransferase for the 1-methylhistidine modification in cell.
Subcellular location. Endoplasmic reticulum. Mitochondrion.
Similarity. Belongs to the METTL9 family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H1A3-1 | 1 | yes |
| Q9H1A3-2 | 2 |
RefSeq proteins (4): NP_001070648, NP_001275588, NP_001275589, NP_057109* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007884 | METL9 | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
Pfam: PF05219
Catalyzed reactions (Rhea), 1 shown:
- L-histidyl-[protein] + S-adenosyl-L-methionine = N(pros)-methyl-L-histidyl-[protein] + S-adenosyl-L-homocysteine + H(+) (RHEA:67076)
UniProt features (55 total): mutagenesis site 18, helix 14, strand 10, turn 4, binding site 3, sequence conflict 2, signal peptide 1, chain 1, glycosylation site 1, splice variant 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7YF2 | X-RAY DIFFRACTION | 1.69 |
| 7Y9C | X-RAY DIFFRACTION | 2.1 |
| 9VPQ | X-RAY DIFFRACTION | 2.28 |
| 8GZF | X-RAY DIFFRACTION | 2.5 |
| 7YF4 | X-RAY DIFFRACTION | 2.75 |
| 8GZE | X-RAY DIFFRACTION | 3.4 |
| 7YF3 | X-RAY DIFFRACTION | 3.43 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H1A3-F1 | 83.68 | 0.60 |
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 (3): 174; 210; 295
Glycosylation sites (1): 35
Mutagenesis-validated functional residues (18):
| Position | Phenotype |
|---|---|
| 126 | nearly abolished binding to substrate proteins. |
| 151 | abolished binding to s-adenosyl-l-homocysteine. |
| 156 | abolished binding to s-adenosyl-l-homocysteine. |
| 173 | decreased binding to s-adenosyl-l-homocysteine. |
| 174 | abolished protein-l-histidine n-pros-methyltransferase activity. |
| 210 | abolished binding to s-adenosyl-l-homocysteine. |
| 213 | abolished binding to substrate proteins. |
| 214 | decreased binding to slc39a5 substrate. |
| 214 | abolished binding to s-adenosyl-l-homocysteine and substrate proteins. |
| 241 | reduced binding to substrate proteins. |
| 249 | abolished binding to substrate proteins. |
| 295 | abolished binding to s-adenosyl-l-homocysteine. |
| 297 | reduced binding to substrate proteins. |
| 300 | abolished binding to substrate proteins. |
| 306–308 | abolished protein-l-histidine n-pros-methyltransferase activity. |
| 115 | decreased binding to s-adenosyl-l-homocysteine and substrate proteins. |
| 118 | decreased binding to s-adenosyl-l-homocysteine and substrate proteins. |
| 123 | abolished binding to substrate proteins. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 209 (showing top):
GSE45365_NK_CELL_VS_BCELL_UP, AAGCAAT_MIR137, TTTGTAG_MIR520D, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, CEBPB_01, TGACATY_UNKNOWN, ZHANG_BREAST_CANCER_PROGENITORS_UP, MODULE_568, CTTTGTA_MIR524, MODULE_491, GOBP_METHYLATION, HUANG_DASATINIB_RESISTANCE_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_DN, chr16p12, GARY_CD5_TARGETS_UP
GO Biological Process (1): methylation (GO:0032259)
GO Molecular Function (4): protein-L-histidine N-pros-methyltransferase activity (GO:0106370), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740)
GO Cellular Component (2): mitochondrion (GO:0005739), endoplasmic reticulum (GO:0005783)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cytoplasm | 2 |
| intracellular membrane-bounded organelle | 2 |
| metabolic process | 1 |
| N-methyltransferase activity | 1 |
| protein methyltransferase activity | 1 |
| S-adenosylmethionine-dependent methyltransferase activity | 1 |
| binding | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| catalytic activity | 1 |
| endomembrane system | 1 |
Protein interactions and networks
STRING
444 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| METTL9 | IGSF6 | O95976 | 972 |
| METTL9 | METTL25 | Q8N6Q8 | 734 |
| METTL9 | METTL13 | Q8N6R0 | 676 |
| METTL9 | TMT1B | Q6UX53 | 662 |
| METTL9 | METTL18 | O95568 | 651 |
| METTL9 | METTL2B | Q6P1Q9 | 636 |
| METTL9 | METTL8 | Q9H825 | 625 |
| METTL9 | METTL21C | Q5VZV1 | 585 |
| METTL9 | OTOA | Q7RTW8 | 575 |
| METTL9 | METTL24 | Q5JXM2 | 572 |
| METTL9 | NTMT1 | Q9BV86 | 567 |
| METTL9 | METTL27 | Q8N6F8 | 558 |
| METTL9 | METTL17 | Q9H7H0 | 532 |
| METTL9 | METTL25B | Q96FB5 | 530 |
| METTL9 | SETD3 | Q86TU7 | 487 |
IntAct
87 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FAM20B | ASPHD2 | psi-mi:“MI:0914”(association) | 0.670 |
| SLC1A1 | AGPAT2 | psi-mi:“MI:0914”(association) | 0.640 |
| SLC39A5 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.640 |
| METTL9 | MYG1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC39A5 | TMEM223 | psi-mi:“MI:0914”(association) | 0.530 |
| LYPD6 | PLXNB2 | psi-mi:“MI:0914”(association) | 0.530 |
| SPRING1 | PLSCR1 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.530 |
| SLC30A2 | RER1 | psi-mi:“MI:0914”(association) | 0.530 |
| FAM174A | BLTP3B | psi-mi:“MI:0914”(association) | 0.530 |
| CD70 | METTL15 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC30A4 | GOSR2 | psi-mi:“MI:0914”(association) | 0.530 |
| TOR1A | TOR1B | psi-mi:“MI:0914”(association) | 0.530 |
| ARMC6 | SLC27A2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC30A2 | ESYT2 | psi-mi:“MI:0914”(association) | 0.530 |
| SLC30A4 | OPA1 | psi-mi:“MI:0914”(association) | 0.530 |
| METTL9 | CHMP6 | psi-mi:“MI:0915”(physical association) | 0.370 |
| METTL9 | CHRM4 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PCNA | METTL9 | psi-mi:“MI:0915”(physical association) | 0.370 |
| ORF69 | PEPD | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A4 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CHRNA9 | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| CLEC2D | TMEM120B | psi-mi:“MI:0914”(association) | 0.350 |
| ST3GAL1 | ITGAV | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (101): METTL9 (Affinity Capture-RNA), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS), METTL9 (Affinity Capture-MS)
ESM2 similar proteins: A0A1D5PUP4, A2AFS3, M0R7X9, O70472, O75882, O95803, P01134, P26012, P52799, P52848, P69849, Q02353, Q05204, Q0VCJ8, Q12841, Q13635, Q15155, Q3UHN9, Q3ZBS2, Q58D84, Q5EA46, Q5JPE7, Q5R9Y1, Q5U4X8, Q5VV63, Q5ZJB7, Q5ZMH6, Q61115, Q62356, Q62632, Q6A051, Q6GQK9, Q6GQT9, Q6P988, Q6UXG2, Q7Z5A7, Q86TD4, Q90693, Q91WE9, Q96CW9
Diamond homologs: Q0VCJ8, Q5ZMH6, Q9EPL4, Q9H1A3
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 106 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Metal ion SLC transporters | 5 | 44.9× | 9e-06 |
| R-HSA-425366 | 5 | 13.5× | 3e-03 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| zinc ion transmembrane transport | 11 | 79.6× | 2e-16 |
| intracellular zinc ion homeostasis | 10 | 49.6× | 1e-12 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
26 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 2 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (2)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1175706 | NC_000016.9:g.(?21623965)(21730823_21968737)del | Pathogenic |
| 685499 | GRCh37/hg19 16p12.2(chr16:21597346-21741439)x1 | Pathogenic |
SpliceAI
1901 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 16:21612643:A:AG | acceptor_gain | 1.0000 |
| 16:21612643:AGT:A | acceptor_gain | 1.0000 |
| 16:21612644:G:GG | acceptor_gain | 1.0000 |
| 16:21612644:GTG:G | acceptor_gain | 1.0000 |
| 16:21618071:ACAG:A | donor_loss | 1.0000 |
| 16:21618073:AGGTA:A | donor_loss | 1.0000 |
| 16:21618074:GG:G | donor_loss | 1.0000 |
| 16:21618075:GTATA:G | donor_loss | 1.0000 |
| 16:21618076:T:G | donor_loss | 1.0000 |
| 16:21624925:TTCTA:T | acceptor_loss | 1.0000 |
| 16:21624926:TCTA:T | acceptor_loss | 1.0000 |
| 16:21624928:TA:T | acceptor_loss | 1.0000 |
| 16:21624929:A:AG | acceptor_gain | 1.0000 |
| 16:21624929:AG:A | acceptor_loss | 1.0000 |
| 16:21624930:G:GC | acceptor_gain | 1.0000 |
| 16:21624930:GA:G | acceptor_gain | 1.0000 |
| 16:21624930:GAGT:G | acceptor_gain | 1.0000 |
| 16:21624930:GAGTC:G | acceptor_gain | 1.0000 |
| 16:21625112:AACGG:A | donor_loss | 1.0000 |
| 16:21625115:GGT:G | donor_loss | 1.0000 |
| 16:21625116:G:A | donor_loss | 1.0000 |
| 16:21625116:G:GG | donor_gain | 1.0000 |
| 16:21625117:T:G | donor_loss | 1.0000 |
| 16:21643072:A:AC | donor_gain | 1.0000 |
| 16:21643073:C:CC | donor_gain | 1.0000 |
| 16:21643073:CAGA:C | donor_gain | 1.0000 |
| 16:21644283:GACTT:G | donor_loss | 1.0000 |
| 16:21644284:ACTT:A | donor_loss | 1.0000 |
| 16:21644285:CT:C | donor_loss | 1.0000 |
| 16:21644286:TT:T | donor_loss | 1.0000 |
AlphaMissense
2081 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 16:21612729:T:C | F84L | 1.000 |
| 16:21612730:T:C | F84S | 1.000 |
| 16:21612731:C:A | F84L | 1.000 |
| 16:21612731:C:G | F84L | 1.000 |
| 16:21617878:G:C | G124R | 1.000 |
| 16:21617879:G:A | G124D | 1.000 |
| 16:21617886:G:A | M126I | 1.000 |
| 16:21617886:G:C | M126I | 1.000 |
| 16:21617886:G:T | M126I | 1.000 |
| 16:21617887:T:C | F127L | 1.000 |
| 16:21617889:T:A | F127L | 1.000 |
| 16:21617889:T:G | F127L | 1.000 |
| 16:21617891:T:A | V128E | 1.000 |
| 16:21617965:G:C | G153R | 1.000 |
| 16:21617966:G:A | G153D | 1.000 |
| 16:21617971:G:A | G155R | 1.000 |
| 16:21617971:G:C | G155R | 1.000 |
| 16:21617972:G:A | G155E | 1.000 |
| 16:21617977:G:A | G157R | 1.000 |
| 16:21617977:G:C | G157R | 1.000 |
| 16:21617978:G:A | G157E | 1.000 |
| 16:21617978:G:T | G157V | 1.000 |
| 16:21618045:G:A | M179I | 1.000 |
| 16:21618045:G:C | M179I | 1.000 |
| 16:21618045:G:T | M179I | 1.000 |
| 16:21618056:T:C | L183P | 1.000 |
| 16:21624983:A:C | S207R | 1.000 |
| 16:21624985:C:A | S207R | 1.000 |
| 16:21624985:C:G | S207R | 1.000 |
| 16:21624994:C:A | N210K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000065174 (16:21631613 G>A,C,T), RS1000074434 (16:21651162 G>T), RS1000197427 (16:21619379 A>G,T), RS1000246842 (16:21606118 C>T), RS1000298197 (16:21637866 G>A,C), RS1000307816 (16:21628365 T>C), RS1000353048 (16:21645206 A>G), RS1000354054 (16:21612856 T>A), RS1000364239 (16:21640839 A>G), RS1000371358 (16:21648367 C>T), RS1000422104 (16:21647954 C>T), RS1000491714 (16:21632557 G>A), RS1000505601 (16:21609045 C>T), RS1000545942 (16:21613850 A>G,T), RS1000569236 (16:21632816 T>G)
Disease associations
OMIM: gene MIM:609388 | disease phenotypes: MIM:607039
GenCC curated gene-disease
Mondo (1): autosomal recessive nonsyndromic hearing loss 22 (MONDO:0011762)
Orphanet (1): Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005411_7 | Thrombin-activatable fibrinolysis inhibitor activation peptide | 5.000000e-07 |
| GCST010146_3 | Serum immune biomarker levels | 4.000000e-10 |
| GCST012291_1 | Schizophrenia, bipolar disorder or recurrent major depressive disorder | 6.000000e-06 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004869 | YKL40 measurement |
| EFO:0004872 | inflammatory biomarker measurement |
| EFO:0004952 | disease recurrence |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C564633 | Deafness, Autosomal Recessive 22 (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | affects cotreatment, decreases methylation, decreases expression, increases methylation | 2 |
| Air Pollutants | decreases expression, increases abundance | 2 |
| Benzo(a)pyrene | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Valproic Acid | affects expression, decreases expression | 2 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| beta-lapachone | increases expression | 1 |
| arsenite | affects binding, increases reaction | 1 |
| butyraldehyde | decreases expression | 1 |
| ochratoxin A | increases expression | 1 |
| cupric chloride | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| ICG 001 | decreases expression | 1 |
| 2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| NSC 689534 | affects binding, decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Cisplatin | increases expression | 1 |
| Copper | affects binding, decreases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Smoke | decreases expression, increases abundance | 1 |
| T-2 Toxin | decreases expression | 1 |
| Tetrachlorodibenzodioxin | affects cotreatment, increases expression | 1 |
| Tobacco Smoke Pollution | increases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | 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_SY15 | HAP1 METTL9 (-) 1 | Cancer cell line | Male |
| CVCL_SY16 | HAP1 METTL9 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): autosomal recessive nonsyndromic hearing loss 22