METTL8
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Also known as FLJ13984TIP
Summary
METTL8 (methyltransferase 8, tRNA N3-cytidine, HGNC:25856) is a protein-coding gene on chromosome 2q31.1, encoding tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial (Q9H825). Mitochondrial S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of mitochondrial tRNA(Ser)(UCN) and tRNA(Thr).
Enables mRNA methyltransferase activity and tRNA (cytidine-3-)-methyltransferase activity. Involved in RNA metabolic process and positive regulation of mitochondrial translation. Is active in mitochondrial matrix.
Source: NCBI Gene 79828 — RefSeq curated summary.
At a glance
- GWAS associations: 9
- Clinical variants (ClinVar): 71 total — 1 pathogenic
- MANE Select transcript:
NM_001321154
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25856 |
| Approved symbol | METTL8 |
| Name | methyltransferase 8, tRNA N3-cytidine |
| Location | 2q31.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ13984, TIP |
| Ensembl gene | ENSG00000123600 |
| Ensembl biotype | protein_coding |
| OMIM | 609525 |
| Entrez | 79828 |
Gene structure
Transcript identifiers
Ensembl transcripts: 26 — 16 protein_coding, 5 protein_coding_CDS_not_defined, 3 retained_intron, 2 nonsense_mediated_decay
ENST00000375258, ENST00000392599, ENST00000392604, ENST00000438609, ENST00000442541, ENST00000442778, ENST00000447486, ENST00000453846, ENST00000460188, ENST00000460539, ENST00000462821, ENST00000463392, ENST00000464491, ENST00000470773, ENST00000477130, ENST00000483284, ENST00000612742, ENST00000907421, ENST00000907422, ENST00000907423, ENST00000907424, ENST00000907425, ENST00000925840, ENST00000925841, ENST00000963895, ENST00000963896
RefSeq mRNA: 10 — MANE Select: NM_001321154
NM_001321154, NM_001321155, NM_001321156, NM_001321157, NM_001321158, NM_001321159, NM_001321160, NM_001321161, NM_001321162, NM_024770
CCDS: CCDS2242, CCDS82531, CCDS82532
Canonical transcript exons
ENST00000375258 — 10 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001512477 | 171433883 | 171433990 |
| ENSE00003462934 | 171339184 | 171339554 |
| ENSE00003475551 | 171337453 | 171337502 |
| ENSE00003495623 | 171392043 | 171392197 |
| ENSE00003585920 | 171331804 | 171331867 |
| ENSE00003597011 | 171360422 | 171360513 |
| ENSE00003598130 | 171330559 | 171330698 |
| ENSE00003625197 | 171325841 | 171325906 |
| ENSE00003626485 | 171326042 | 171326148 |
| ENSE00003917095 | 171315746 | 171324362 |
Expression profiles
Bgee: expression breadth ubiquitous, 263 present calls, max score 91.47.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 12.3209 / max 201.2012, expressed in 1789 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 31777 | 7.2051 | 1693 |
| 31778 | 4.5505 | 1659 |
| 31776 | 0.5654 | 65 |
Top tissues by expression
285 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.47 | gold quality |
| buccal mucosa cell | CL:0002336 | 89.14 | gold quality |
| calcaneal tendon | UBERON:0003701 | 89.01 | gold quality |
| sperm | CL:0000019 | 86.82 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 85.85 | gold quality |
| penis | UBERON:0000989 | 85.33 | gold quality |
| tendon | UBERON:0000043 | 84.86 | gold quality |
| adrenal tissue | UBERON:0018303 | 84.07 | gold quality |
| nipple | UBERON:0002030 | 84.06 | gold quality |
| colonic epithelium | UBERON:0000397 | 83.90 | gold quality |
| male germ cell | CL:0000015 | 83.69 | gold quality |
| sural nerve | UBERON:0015488 | 83.25 | gold quality |
| oral cavity | UBERON:0000167 | 83.13 | gold quality |
| rectum | UBERON:0001052 | 82.99 | gold quality |
| skin of hip | UBERON:0001554 | 82.73 | gold quality |
| superficial temporal artery | UBERON:0001614 | 82.67 | gold quality |
| medial globus pallidus | UBERON:0002477 | 82.61 | gold quality |
| esophagus mucosa | UBERON:0002469 | 82.45 | gold quality |
| mammalian vulva | UBERON:0000997 | 82.29 | gold quality |
| esophagus | UBERON:0001043 | 81.87 | gold quality |
| lymph node | UBERON:0000029 | 81.58 | gold quality |
| ventricular zone | UBERON:0003053 | 81.44 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 81.43 | gold quality |
| corpus callosum | UBERON:0002336 | 81.39 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 81.30 | gold quality |
| globus pallidus | UBERON:0001875 | 81.15 | gold quality |
| skin of abdomen | UBERON:0001416 | 81.10 | gold quality |
| skin of leg | UBERON:0001511 | 81.10 | gold quality |
| lower esophagus | UBERON:0013473 | 80.96 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 80.93 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-CURD-46 | yes | 14.11 |
| E-ANND-3 | yes | 6.08 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
279 targeting METTL8, 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-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-450A-1-3P | 100.00 | 69.33 | 1837 |
| HSA-MIR-4776-3P | 100.00 | 68.73 | 1340 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-4531 | 99.99 | 69.70 | 3181 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-433-3P | 99.98 | 69.37 | 1203 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-512-3P | 99.97 | 67.35 | 1049 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-1229-3P | 99.97 | 66.49 | 906 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
Literature-anchored findings (GeneRIF, showing 5)
- Data, including data from studies using mutant/knockout mice and cell lines from such mice, suggest that METTL2 and METTL6 (but not METTL8) contribute to post-transcriptional methylation of cytidine (formation of 3-methylcytidine) in tRNA; METTL2 methylates tRNA(Thr) and tRNA(Arg); METTL6 interacts with seryl-tRNA synthetase and methylates tRNA(Ser); METTL8 catalyzes post-transcriptional methylation of cytidine in mRNA. (PMID:28655767)
- The RNA methyltransferase METTL8 installs m(3)C32 in mitochondrial tRNAs(Thr/Ser(UCN)) to optimise tRNA structure and mitochondrial translation. (PMID:35017528)
- Methyltransferase METTL8 is required for 3-methylcytosine modification in human mitochondrial tRNAs. (PMID:35247384)
- Molecular basis for human mitochondrial tRNA m3C modification by alternatively spliced METTL8. (PMID:35357504)
- METTL8 links mt-tRNA m[3]C modification to the HIF1alpha/RTK/Akt axis to sustain GBM stemness and tumorigenicity. (PMID:38744809)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | mettl8 | ENSDARG00000017359 |
| mus_musculus | Mettl8 | ENSMUSG00000041975 |
| rattus_norvegicus | Mettl8 | ENSRNOG00000009382 |
Paralogs (3): METTL2A (ENSG00000087995), METTL2B (ENSG00000165055), METTL6 (ENSG00000206562)
Protein
Protein identifiers
tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial — Q9H825 (reviewed: Q9H825)
Alternative names: Methyltransferase-like protein 8, mRNA N(3)-methylcytidine methyltransferase METTL8
All UniProt accessions (7): B3KW44, B5ME25, C9J3F1, C9J6U8, C9JE69, Q9H825, H7C2P8
UniProt curated annotations — full annotation on UniProt →
Function. Mitochondrial S-adenosyl-L-methionine-dependent methyltransferase that mediates N(3)-methylcytidine modification of residue 32 of the tRNA anticodon loop of mitochondrial tRNA(Ser)(UCN) and tRNA(Thr). N(3)-methylcytidine methylation modification regulates mitochondrial translation efficiency and is required for activity of the respiratory chain. N(3)-methylcytidine methylation of mitochondrial tRNA(Ser)(UCN) requires the formation of N(6)-dimethylallyladenosine(37) (i6A37) by TRIT1 as prerequisite. May also mediate N(3)-methylcytidine modification of mRNAs. The existence of N(3)-methylcytidine modification on mRNAs is however unclear, and additional evidences are required to confirm the role of the N(3)-methylcytidine-specific mRNA methyltransferase activity of METTL8 in vivo.
Subunit / interactions. Interacts with EP300.
Subcellular location. Mitochondrion.
Similarity. Belongs to the methyltransferase superfamily. METL family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H825-1 | 1 | yes |
| Q9H825-2 | 2 |
RefSeq proteins (10): NP_001308083, NP_001308084, NP_001308085, NP_001308086, NP_001308087, NP_001308088, NP_001308089, NP_001308090, NP_001308091, NP_079046 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR026113 | METTL2/6/8-like | Family |
| IPR029063 | SAM-dependent_MTases_sf | Homologous_superfamily |
| IPR041698 | Methyltransf_25 | Domain |
Pfam: PF13649
Catalyzed reactions (Rhea), 3 shown:
- cytidine(32) in tRNA(Ser) + S-adenosyl-L-methionine = N(3)-methylcytidine(32) in tRNA(Ser) + S-adenosyl-L-homocysteine + H(+) (RHEA:50956)
- cytidine(32) in tRNA(Thr) + S-adenosyl-L-methionine = N(3)-methylcytidine(32) in tRNA(Thr) + S-adenosyl-L-homocysteine + H(+) (RHEA:50960)
- a cytidine in mRNA + S-adenosyl-L-methionine = an N(3)-methylcytidine in mRNA + S-adenosyl-L-homocysteine + H(+) (RHEA:60916)
UniProt features (15 total): binding site 5, mutagenesis site 4, transit peptide 1, chain 1, splice variant 1, region of interest 1, compositionally biased region 1, cross-link 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H825-F1 | 73.00 | 0.48 |
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): 89; 93; 204; 230; 256
Post-translational modifications (1): 80
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 4 | partial relocalization to the cytoplasm; when associated with q-9. |
| 9 | partial relocalization to the cytoplasm; when associated with q-4. |
| 80 | abolished sumoylation. |
| 230 | abolished n(3)-methylcytidine methyltransferase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 246 (showing top):
GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GCANCTGNY_MYOD_Q6, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_TRNA_METABOLIC_PROCESS, GOBP_MITOCHONDRIAL_TRANSLATION, CAGCTG_AP4_Q5, GOBP_RNA_METHYLATION, AACWWCAANK_UNKNOWN, GOBP_TRANSLATION, GOBP_POST_TRANSCRIPTIONAL_REGULATION_OF_GENE_EXPRESSION, GOBP_RNA_MODIFICATION, HUTTMANN_B_CLL_POOR_SURVIVAL_DN, TGIF_01, GOBP_MITOCHONDRIAL_RNA_PROCESSING, GOBP_TRNA_METHYLATION
GO Biological Process (9): mRNA metabolic process (GO:0016071), positive regulation of mitochondrial translation (GO:0070131), mitochondrial tRNA modification (GO:0070900), tRNA C3-cytosine methylation (GO:0106217), chromatin remodeling (GO:0006338), skeletal muscle tissue development (GO:0007519), tRNA processing (GO:0008033), methylation (GO:0032259), fat cell differentiation (GO:0045444)
GO Molecular Function (7): mRNA methyltransferase activity (GO:0008174), tRNA (cytidine-N3)-methyltransferase activity (GO:0052735), histone acetyltransferase activity (GO:0004402), methyltransferase activity (GO:0008168), RNA methyltransferase activity (GO:0008173), S-adenosylmethionine-dependent methyltransferase activity (GO:0008757), transferase activity (GO:0016740)
GO Cellular Component (4): mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), nucleus (GO:0005634), cytoplasm (GO:0005737)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| mitochondrion | 2 |
| methyltransferase activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| RNA metabolic process | 1 |
| mitochondrial translation | 1 |
| positive regulation of translation | 1 |
| regulation of mitochondrial translation | 1 |
| tRNA modification | 1 |
| mitochondrial tRNA processing | 1 |
| mitochondrial RNA modification | 1 |
| tRNA methylation | 1 |
| chromatin organization | 1 |
| striated muscle tissue development | 1 |
| skeletal muscle organ development | 1 |
| RNA processing | 1 |
| tRNA metabolic process | 1 |
| metabolic process | 1 |
| cell differentiation | 1 |
| RNA methyltransferase activity | 1 |
| S-adenosylmethionine-dependent methyltransferase activity | 1 |
| tRNA (cytidine) methyltransferase activity | 1 |
| protein-lysine-acetyltransferase activity | 1 |
| histone modifying activity | 1 |
| transferase activity, transferring one-carbon groups | 1 |
| catalytic activity, acting on RNA | 1 |
| catalytic activity | 1 |
| cytoplasm | 1 |
| intracellular organelle lumen | 1 |
| intracellular anatomical structure | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1130 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| METTL8 | TAX1BP3 | O14907 | 876 |
| METTL8 | METTL25 | Q8N6Q8 | 783 |
| METTL8 | TLCD4 | Q96MV1 | 647 |
| METTL8 | GIPC1 | O14908 | 626 |
| METTL8 | METTL9 | Q9H1A3 | 625 |
| METTL8 | HEXIM2 | Q96MH2 | 616 |
| METTL8 | TMT1B | Q6UX53 | 612 |
| METTL8 | TRMT10B | Q6PF06 | 590 |
| METTL8 | EEF1AKMT2 | Q5JPI9 | 577 |
| METTL8 | METTL13 | Q8N6R0 | 556 |
| METTL8 | METTL5 | Q9NRN9 | 534 |
| METTL8 | SOCS1 | O15524 | 530 |
| METTL8 | GFI1B | Q5VTD9 | 523 |
| METTL8 | TRMT10A | Q8TBZ6 | 518 |
| METTL8 | SARS1 | P49591 | 506 |
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SDC2 | PDPK1 | psi-mi:“MI:0914”(association) | 0.640 |
| TRIP13 | INTS11 | psi-mi:“MI:0914”(association) | 0.550 |
| DCAF8 | TCP1 | psi-mi:“MI:0914”(association) | 0.530 |
| CD6 | CIBAR1 | psi-mi:“MI:0914”(association) | 0.350 |
| CD44 | TCAF2 | psi-mi:“MI:0914”(association) | 0.350 |
| SDC4 | FGF2 | psi-mi:“MI:0914”(association) | 0.350 |
| SDC2 | ELAPOR2 | psi-mi:“MI:0914”(association) | 0.350 |
| UBR4 | METTL15 | psi-mi:“MI:0914”(association) | 0.350 |
| DSCR9 | METTL8 | psi-mi:“MI:0915”(physical association) | 0.000 |
ESM2 similar proteins: A1L1P7, A6ZND9, A6ZSH0, B0BN56, B3LIY9, B3LPE4, B5VQB0, C5DKM2, D3ZYW7, F4I9Q5, O14320, O35658, O35796, O35943, O49196, P37841, P42797, P42844, P49727, P51132, P51133, P51135, P82928, Q01607, Q04907, Q05B87, Q07021, Q08230, Q09759, Q0IH40, Q16595, Q1JPN0, Q2KI49, Q3T0B6, Q5REH5, Q84WZ8, Q8HXX9, Q8N5N7, Q8VZE7, Q94JS0
Diamond homologs: A2AUU0, A8KBL7, Q0P5B2, Q5M8E6, Q5ZHP8, Q6P1Q9, Q86BS6, Q8BMK1, Q96IZ6, Q9H825, G0REX6, O74386, Q08641, Q5ATG8, Q5RDV8, Q6AXU8, Q8BVH9, Q8T199, Q8TCB7, Q9P7L6, A0A0C6E0I7, A1JRM2, A4TJK8, A7FID3, A9QYY1, B1JLL8, B2K316, Q1C823, Q1CJH3, Q66AU7, Q7CIB7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
71 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 47 |
| Likely benign | 6 |
| Benign | 2 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 3247166 | NC_000002.11:g.(?172291088)(172291716_?)del | Pathogenic |
SpliceAI
2128 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:171326040:AC:A | donor_gain | 1.0000 |
| 2:171326041:CC:C | donor_gain | 1.0000 |
| 2:171337451:A:AC | donor_gain | 1.0000 |
| 2:171337452:CT:C | donor_gain | 1.0000 |
| 2:171339550:CTTAA:C | acceptor_gain | 1.0000 |
| 2:171326068:T:C | donor_gain | 0.9900 |
| 2:171326148:CCTT:C | acceptor_gain | 0.9900 |
| 2:171337451:ACT:A | donor_gain | 0.9900 |
| 2:171337452:CTC:C | donor_gain | 0.9900 |
| 2:171339209:C:CT | donor_gain | 0.9900 |
| 2:171339210:T:TT | donor_gain | 0.9900 |
| 2:171339551:TTAA:T | acceptor_gain | 0.9900 |
| 2:171339552:TAA:T | acceptor_gain | 0.9900 |
| 2:171339554:AC:A | acceptor_loss | 0.9900 |
| 2:171339555:C:CA | acceptor_loss | 0.9900 |
| 2:171339555:C:CC | acceptor_gain | 0.9900 |
| 2:171339556:T:A | acceptor_loss | 0.9900 |
| 2:171434699:GCCAG:G | donor_loss | 0.9900 |
| 2:171434700:CCAGG:C | donor_loss | 0.9900 |
| 2:171434701:CAGG:C | donor_loss | 0.9900 |
| 2:171434702:AG:A | donor_loss | 0.9900 |
| 2:171434703:GGT:G | donor_loss | 0.9900 |
| 2:171434705:T:A | donor_loss | 0.9900 |
| 2:171326037:ATTAC:A | donor_gain | 0.9800 |
| 2:171327983:T:A | donor_gain | 0.9800 |
| 2:171330694:TGTGA:T | acceptor_gain | 0.9800 |
| 2:171330699:C:CC | acceptor_gain | 0.9800 |
| 2:171339180:ATAC:A | donor_loss | 0.9800 |
| 2:171339182:ACCT:A | donor_loss | 0.9800 |
| 2:171339183:C:A | donor_loss | 0.9800 |
AlphaMissense
2505 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:171337479:A:C | S210R | 0.996 |
| 2:171337479:A:T | S210R | 0.996 |
| 2:171337481:T:G | S210R | 0.996 |
| 2:171339514:A:C | F92L | 0.996 |
| 2:171339514:A:T | F92L | 0.996 |
| 2:171339516:A:G | F92L | 0.996 |
| 2:171330585:A:C | F278L | 0.995 |
| 2:171330585:A:T | F278L | 0.995 |
| 2:171330587:A:G | F278L | 0.995 |
| 2:171339523:C:A | W89C | 0.995 |
| 2:171339523:C:G | W89C | 0.995 |
| 2:171339457:A:C | F111L | 0.994 |
| 2:171339457:A:T | F111L | 0.994 |
| 2:171339459:A:G | F111L | 0.994 |
| 2:171331840:A:C | C228W | 0.993 |
| 2:171339490:A:C | F100L | 0.993 |
| 2:171339490:A:T | F100L | 0.993 |
| 2:171339492:A:G | F100L | 0.993 |
| 2:171360513:C:A | W48C | 0.993 |
| 2:171360513:C:G | W48C | 0.993 |
| 2:171339474:A:G | W106R | 0.992 |
| 2:171339474:A:T | W106R | 0.992 |
| 2:171339480:G:T | R104S | 0.992 |
| 2:171392044:A:G | W48R | 0.992 |
| 2:171392044:A:T | W48R | 0.992 |
| 2:171339525:A:G | W89R | 0.991 |
| 2:171339525:A:T | W89R | 0.991 |
| 2:171337486:C:A | G208V | 0.990 |
| 2:171339188:A:G | L201P | 0.990 |
| 2:171330660:A:C | F253L | 0.989 |
dbSNP variants (sampled 300 via entrez): RS1000012212 (2:171324413 G>A), RS1000024398 (2:171396563 C>T), RS1000030473 (2:171421255 C>T), RS1000033566 (2:171356775 A>G), RS1000075721 (2:171394088 C>T), RS1000124294 (2:171421806 G>A), RS1000143131 (2:171349247 G>A), RS1000220905 (2:171331134 C>G,T), RS1000225739 (2:171392416 T>C), RS1000280733 (2:171375486 A>C), RS1000325850 (2:171369428 T>C), RS1000380390 (2:171324683 C>T), RS1000408160 (2:171355682 C>A), RS1000411417 (2:171399523 T>C), RS1000440256 (2:171318089 G>A)
Disease associations
OMIM: gene MIM:609525 | disease phenotypes: MIM:241080
GenCC curated gene-disease
Mondo (1): Woodhouse-Sakati syndrome (MONDO:0009419)
Orphanet (1): Woodhouse-Sakati syndrome (Orphanet:3464)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
9 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001530_3 | Hippocampal atrophy | 5.000000e-06 |
| GCST002783_317 | Body mass index | 3.000000e-06 |
| GCST012227_1234 | Hip circumference adjusted for BMI | 4.000000e-10 |
| GCST90000025_825 | Appendicular lean mass | 2.000000e-11 |
| GCST90020028_740 | Hip circumference adjusted for BMI | 2.000000e-08 |
| GCST90020028_741 | Hip circumference adjusted for BMI | 3.000000e-09 |
| GCST90020028_742 | Hip circumference adjusted for BMI | 8.000000e-13 |
| GCST90020028_743 | Hip circumference adjusted for BMI | 4.000000e-08 |
| GCST90020028_744 | Hip circumference adjusted for BMI | 5.000000e-11 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005039 | hippocampal atrophy |
| EFO:0004340 | body mass index |
| EFO:0008039 | BMI-adjusted hip circumference |
| EFO:0004980 | appendicular lean mass |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| C536742 | Woodhouse Sakati syndrome (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 4 |
| trichostatin A | affects cotreatment, increases expression | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tretinoin | decreases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| alpha-pinene | affects cotreatment, increases expression, increases abundance | 1 |
| arsenite | affects binding, increases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| methacrylaldehyde | affects cotreatment, increases expression, increases abundance | 1 |
| epigallocatechin gallate | affects cotreatment, decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Acrolein | affects cotreatment, increases expression, increases abundance | 1 |
| Air Pollutants | affects cotreatment, increases abundance, increases expression | 1 |
| Calcitriol | decreases expression, affects cotreatment | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Gallic Acid | increases expression | 1 |
| Methapyrilene | increases methylation | 1 |
Cellosaurus cell lines
2 cell lines: 2 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SY13 | HAP1 METTL8 (-) 1 | Cancer cell line | Male |
| CVCL_SY14 | HAP1 METTL8 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT05522374 | Not specified | RECRUITING | TIRCON International NBIA Registry |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Woodhouse-Sakati syndrome