METTL8

gene
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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

FieldValue
HGNC IDHGNC:25856
Approved symbolMETTL8
Namemethyltransferase 8, tRNA N3-cytidine
Location2q31.1
Locus typegene with protein product
StatusApproved
AliasesFLJ13984, TIP
Ensembl geneENSG00000123600
Ensembl biotypeprotein_coding
OMIM609525
Entrez79828

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

ExonStartEnd
ENSE00001512477171433883171433990
ENSE00003462934171339184171339554
ENSE00003475551171337453171337502
ENSE00003495623171392043171392197
ENSE00003585920171331804171331867
ENSE00003597011171360422171360513
ENSE00003598130171330559171330698
ENSE00003625197171325841171325906
ENSE00003626485171326042171326148
ENSE00003917095171315746171324362

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 IDTPM avgSamples expressed
317777.20511693
317784.55051659
317760.565465

Top tissues by expression

285 total, by Bgee expression score (0-100, higher = more expressed):

TissueAnatomy IDExpression scoreQuality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099191.47gold quality
buccal mucosa cellCL:000233689.14gold quality
calcaneal tendonUBERON:000370189.01gold quality
spermCL:000001986.82gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047385.85gold quality
penisUBERON:000098985.33gold quality
tendonUBERON:000004384.86gold quality
adrenal tissueUBERON:001830384.07gold quality
nippleUBERON:000203084.06gold quality
colonic epitheliumUBERON:000039783.90gold quality
male germ cellCL:000001583.69gold quality
sural nerveUBERON:001548883.25gold quality
oral cavityUBERON:000016783.13gold quality
rectumUBERON:000105282.99gold quality
skin of hipUBERON:000155482.73gold quality
superficial temporal arteryUBERON:000161482.67gold quality
medial globus pallidusUBERON:000247782.61gold quality
esophagus mucosaUBERON:000246982.45gold quality
mammalian vulvaUBERON:000099782.29gold quality
esophagusUBERON:000104381.87gold quality
lymph nodeUBERON:000002981.58gold quality
ventricular zoneUBERON:000305381.44gold quality
muscle layer of sigmoid colonUBERON:003580581.43gold quality
corpus callosumUBERON:000233681.39gold quality
esophagus squamous epitheliumUBERON:000692081.30gold quality
globus pallidusUBERON:000187581.15gold quality
skin of abdomenUBERON:000141681.10gold quality
skin of legUBERON:000151181.10gold quality
lower esophagusUBERON:001347380.96gold quality
lower esophagus muscularis layerUBERON:003583380.93gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-CURD-46yes14.11
E-ANND-3yes6.08

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):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3613-3P100.0076.367965
HSA-MIR-7110-3P100.0073.182486
HSA-MIR-6873-3P100.0071.422626
HSA-MIR-450A-1-3P100.0069.331837
HSA-MIR-4776-3P100.0068.731340
HSA-MIR-4455100.0065.481587
HSA-MIR-3646100.0073.565283
HSA-MIR-5692A100.0074.406850
HSA-MIR-30A-5P100.0076.313233
HSA-MIR-30B-5P100.0076.293248
HSA-MIR-30C-5P100.0076.293248
HSA-MIR-30D-5P100.0076.323233
HSA-MIR-30E-5P100.0076.323242
HSA-MIR-371B-5P99.9975.344759
HSA-MIR-548AW99.9972.573559
HSA-MIR-453199.9969.703181
HSA-MIR-428299.9975.366408
HSA-MIR-196A-1-3P99.9972.152772
HSA-MIR-373-5P99.9875.364753
HSA-MIR-616-5P99.9875.584775
HSA-MIR-548N99.9871.944170
HSA-MIR-477599.9875.006394
HSA-MIR-4482-3P99.9872.503147
HSA-MIR-433-3P99.9869.371203
HSA-MIR-1213699.9872.815713
HSA-MIR-3688-3P99.9772.022834
HSA-MIR-512-3P99.9767.351049
HSA-MIR-314899.9775.066478
HSA-MIR-1229-3P99.9766.49906
HSA-MIR-50799.9770.111915

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

OrganismSymbolGene ID
danio_reriomettl8ENSDARG00000017359
mus_musculusMettl8ENSMUSG00000041975
rattus_norvegicusMettl8ENSRNOG00000009382

Paralogs (3): METTL2A (ENSG00000087995), METTL2B (ENSG00000165055), METTL6 (ENSG00000206562)

Protein

Protein identifiers

tRNA N(3)-cytidine methyltransferase METTL8, mitochondrialQ9H825 (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 IDNamesCanonical?
Q9H825-11yes
Q9H825-22

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)

IDNameType
IPR026113METTL2/6/8-likeFamily
IPR029063SAM-dependent_MTases_sfHomologous_superfamily
IPR041698Methyltransf_25Domain

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)

ModelpLDDTFraction very-high
AF-Q9H825-F173.000.48

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):

PositionPhenotype
4partial relocalization to the cytoplasm; when associated with q-9.
9partial relocalization to the cytoplasm; when associated with q-4.
80abolished sumoylation.
230abolished 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:

CategoryTerms
mitochondrion2
methyltransferase activity2
intracellular membrane-bounded organelle2
RNA metabolic process1
mitochondrial translation1
positive regulation of translation1
regulation of mitochondrial translation1
tRNA modification1
mitochondrial tRNA processing1
mitochondrial RNA modification1
tRNA methylation1
chromatin organization1
striated muscle tissue development1
skeletal muscle organ development1
RNA processing1
tRNA metabolic process1
metabolic process1
cell differentiation1
RNA methyltransferase activity1
S-adenosylmethionine-dependent methyltransferase activity1
tRNA (cytidine) methyltransferase activity1
protein-lysine-acetyltransferase activity1
histone modifying activity1
transferase activity, transferring one-carbon groups1
catalytic activity, acting on RNA1
catalytic activity1
cytoplasm1
intracellular organelle lumen1
intracellular anatomical structure1
cellular anatomical structure1

Protein interactions and networks

STRING

1130 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
METTL8TAX1BP3O14907876
METTL8METTL25Q8N6Q8783
METTL8TLCD4Q96MV1647
METTL8GIPC1O14908626
METTL8METTL9Q9H1A3625
METTL8HEXIM2Q96MH2616
METTL8TMT1BQ6UX53612
METTL8TRMT10BQ6PF06590
METTL8EEF1AKMT2Q5JPI9577
METTL8METTL13Q8N6R0556
METTL8METTL5Q9NRN9534
METTL8SOCS1O15524530
METTL8GFI1BQ5VTD9523
METTL8TRMT10AQ8TBZ6518
METTL8SARS1P49591506

IntAct

10 interactions, top by confidence:

ABTypeScore
SDC2PDPK1psi-mi:“MI:0914”(association)0.640
TRIP13INTS11psi-mi:“MI:0914”(association)0.550
DCAF8TCP1psi-mi:“MI:0914”(association)0.530
CD6CIBAR1psi-mi:“MI:0914”(association)0.350
CD44TCAF2psi-mi:“MI:0914”(association)0.350
SDC4FGF2psi-mi:“MI:0914”(association)0.350
SDC2ELAPOR2psi-mi:“MI:0914”(association)0.350
UBR4METTL15psi-mi:“MI:0914”(association)0.350
DSCR9METTL8psi-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):

ClassificationCount (floor)
Pathogenic1
Likely pathogenic0
Uncertain significance47
Likely benign6
Benign2

Top pathogenic / likely-pathogenic (1)

Variant IDHGVSClassification
3247166NC_000002.11:g.(?172291088)(172291716_?)delPathogenic

SpliceAI

2128 predictions. Top by Δscore:

VariantEffectΔscore
2:171326040:AC:Adonor_gain1.0000
2:171326041:CC:Cdonor_gain1.0000
2:171337451:A:ACdonor_gain1.0000
2:171337452:CT:Cdonor_gain1.0000
2:171339550:CTTAA:Cacceptor_gain1.0000
2:171326068:T:Cdonor_gain0.9900
2:171326148:CCTT:Cacceptor_gain0.9900
2:171337451:ACT:Adonor_gain0.9900
2:171337452:CTC:Cdonor_gain0.9900
2:171339209:C:CTdonor_gain0.9900
2:171339210:T:TTdonor_gain0.9900
2:171339551:TTAA:Tacceptor_gain0.9900
2:171339552:TAA:Tacceptor_gain0.9900
2:171339554:AC:Aacceptor_loss0.9900
2:171339555:C:CAacceptor_loss0.9900
2:171339555:C:CCacceptor_gain0.9900
2:171339556:T:Aacceptor_loss0.9900
2:171434699:GCCAG:Gdonor_loss0.9900
2:171434700:CCAGG:Cdonor_loss0.9900
2:171434701:CAGG:Cdonor_loss0.9900
2:171434702:AG:Adonor_loss0.9900
2:171434703:GGT:Gdonor_loss0.9900
2:171434705:T:Adonor_loss0.9900
2:171326037:ATTAC:Adonor_gain0.9800
2:171327983:T:Adonor_gain0.9800
2:171330694:TGTGA:Tacceptor_gain0.9800
2:171330699:C:CCacceptor_gain0.9800
2:171339180:ATAC:Adonor_loss0.9800
2:171339182:ACCT:Adonor_loss0.9800
2:171339183:C:Adonor_loss0.9800

AlphaMissense

2505 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
2:171337479:A:CS210R0.996
2:171337479:A:TS210R0.996
2:171337481:T:GS210R0.996
2:171339514:A:CF92L0.996
2:171339514:A:TF92L0.996
2:171339516:A:GF92L0.996
2:171330585:A:CF278L0.995
2:171330585:A:TF278L0.995
2:171330587:A:GF278L0.995
2:171339523:C:AW89C0.995
2:171339523:C:GW89C0.995
2:171339457:A:CF111L0.994
2:171339457:A:TF111L0.994
2:171339459:A:GF111L0.994
2:171331840:A:CC228W0.993
2:171339490:A:CF100L0.993
2:171339490:A:TF100L0.993
2:171339492:A:GF100L0.993
2:171360513:C:AW48C0.993
2:171360513:C:GW48C0.993
2:171339474:A:GW106R0.992
2:171339474:A:TW106R0.992
2:171339480:G:TR104S0.992
2:171392044:A:GW48R0.992
2:171392044:A:TW48R0.992
2:171339525:A:GW89R0.991
2:171339525:A:TW89R0.991
2:171337486:C:AG208V0.990
2:171339188:A:GL201P0.990
2:171330660:A:CF253L0.989

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):

StudyTraitp-value
GCST001530_3Hippocampal atrophy5.000000e-06
GCST002783_317Body mass index3.000000e-06
GCST012227_1234Hip circumference adjusted for BMI4.000000e-10
GCST90000025_825Appendicular lean mass2.000000e-11
GCST90020028_740Hip circumference adjusted for BMI2.000000e-08
GCST90020028_741Hip circumference adjusted for BMI3.000000e-09
GCST90020028_742Hip circumference adjusted for BMI8.000000e-13
GCST90020028_743Hip circumference adjusted for BMI4.000000e-08
GCST90020028_744Hip circumference adjusted for BMI5.000000e-11

EFO canonical traits (4, from GWAS)

EFO IDTrait name
EFO:0005039hippocampal atrophy
EFO:0004340body mass index
EFO:0008039BMI-adjusted hip circumference
EFO:0004980appendicular lean mass

MeSH disease descriptors (1)

DescriptorNameTree numbers
C536742Woodhouse 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.

ChemicalActions (top 5)PubMed papers
Valproic Acidaffects cotreatment, increases expression, affects expression4
trichostatin Aaffects cotreatment, increases expression3
entinostatincreases expression, affects cotreatment2
Benzo(a)pyreneaffects methylation, increases expression2
Phenylmercuric Acetateaffects cotreatment, increases expression2
Tretinoindecreases expression2
methylmercuric chlorideincreases expression1
triphenyl phosphateaffects expression1
alpha-pineneaffects cotreatment, increases expression, increases abundance1
arseniteaffects binding, increases reaction1
sodium arsenitedecreases expression1
benzo(e)pyreneincreases methylation1
potassium chromate(VI)affects cotreatment, decreases expression1
aflatoxin B2increases methylation1
methacrylaldehydeaffects cotreatment, increases expression, increases abundance1
epigallocatechin gallateaffects cotreatment, decreases expression1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamideaffects cotreatment, increases expression1
abrinedecreases expression1
dorsomorphinincreases expression, affects cotreatment1
jinfukangaffects cotreatment, increases expression1
Acroleinaffects cotreatment, increases expression, increases abundance1
Air Pollutantsaffects cotreatment, increases abundance, increases expression1
Calcitrioldecreases expression, affects cotreatment1
Cisplatinaffects cotreatment, increases expression1
Dichlorodiphenyl Dichloroethyleneincreases expression1
Doxorubicindecreases expression1
Estradiolincreases expression1
Formaldehydedecreases expression1
Gallic Acidincreases expression1
Methapyrileneincreases methylation1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

CellosaurusNameCategorySex
CVCL_SY13HAP1 METTL8 (-) 1Cancer cell lineMale
CVCL_SY14HAP1 METTL8 (-) 2Cancer cell lineMale

Clinical trials (associated diseases)

1 trials via MONDO — disease-level, not drug-specific.

TrialPhaseStatusTitle
NCT05522374Not specifiedRECRUITINGTIRCON International NBIA Registry
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Woodhouse-Sakati syndrome