Gene Gene information from NCBI Gene database.
Entrez ID 79828
Gene name Methyltransferase 8, tRNA N3-cytidine
Gene symbol METTL8
Synonyms (NCBI Gene)
TIP
Chromosome 2
Chromosome location 2q31.1
miRNA miRNA information provided by mirtarbase database.
986
miRTarBase ID miRNA Experiments Reference
MIRT725387 hsa-miR-193a-5p HITS-CLIP 19536157
MIRT725386 hsa-miR-656-3p HITS-CLIP 19536157
MIRT725385 hsa-miR-126-5p HITS-CLIP 19536157
MIRT725384 hsa-miR-1206 HITS-CLIP 19536157
MIRT725383 hsa-miR-6853-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
17
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IDA 34774131
GO:0005737 Component Cytoplasm IDA 34774131
GO:0005739 Component Mitochondrion IDA 34774131
GO:0005759 Component Mitochondrial matrix IDA 35017528
GO:0008033 Process TRNA processing IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609525 25856 ENSG00000123600
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H825
Protein name tRNA N(3)-cytidine methyltransferase METTL8, mitochondrial (EC 2.1.1.-) (Methyltransferase-like protein 8) (mRNA N(3)-methylcytidine methyltransferase METTL8) (EC 2.1.1.-)
Protein 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) (PubMed:34774131, PubMed:35017528). N(3)-meth
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13649 Methyltransf_25 200 290 Methyltransferase domain Domain
Sequence
MNMIWRNSISCLRLGKVPHRYQSGYHPVAPLGSRILTDPAKVFEHNMWDHMQWSKEEEAA
ARKKVKENSAVRVLLEEQVKYEREASKYWDTFYKIHKNKFFKDRNWLLREFPEILPVDQK
PEEKARESSWDHVKTSATNRFSRMHCPTVPDEKNHYEKSSGSSEGQSKTESDFSNLDSEK
HKKGPMETGLFPGSNATFRILEVGCGAGNSVFPILNTLENSPESFLYCCDFASGAVELVK
SHSSYRATQCFAFVHDVCDDGLPYPFPDGILDVILLVFVLSSIHPDRTLF
I
Sequence length 291
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEMIPLEGIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Lung cancer Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Melanoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Anodontia Anodontia Pubtator 28803425 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 34063990 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 28803425 Associate
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 28643178
★☆☆☆☆
Found in Text Mining only
Familial aplasia of the vermis Cerebellar vermis agenesis BEFREE 31412255
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 37061119 Associate
★☆☆☆☆
Found in Text Mining only
Graft-vs-Host Disease Graft-Vs-Host Disease BEFREE 12598909
★☆☆☆☆
Found in Text Mining only
Liver carcinoma Liver carcinoma BEFREE 31188562
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 28803425, 30154154
★☆☆☆☆
Found in Text Mining only
Mammary Neoplasms Mammary Neoplasms BEFREE 25310526
★☆☆☆☆
Found in Text Mining only