Gene Gene information from NCBI Gene database.
Entrez ID 196410
Gene name Thiol methyltransferase 1B
Gene symbol TMT1B
Synonyms (NCBI Gene)
ALDIMETTL7B
Chromosome 12
Chromosome location 12q13.2
miRNA miRNA information provided by mirtarbase database.
55
miRTarBase ID miRNA Experiments Reference
MIRT1144932 hsa-miR-1208 CLIP-seq
MIRT1144933 hsa-miR-1238 CLIP-seq
MIRT1144934 hsa-miR-3185 CLIP-seq
MIRT1144935 hsa-miR-361-3p CLIP-seq
MIRT1144936 hsa-miR-3664-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005783 Component Endoplasmic reticulum IEA
GO:0005789 Component Endoplasmic reticulum membrane IEA
GO:0005811 Component Lipid droplet IEA
GO:0005829 Component Cytosol IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q6UX53
Protein name Thiol S-methyltransferase TMT1B (EC 2.1.1.9) (Methyltransferase-like protein 7B) (Thiol S-methyltransferase METTL7B)
Protein function Thiol S-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to alkyl and phenolic thiol-containing acceptor substrates. Together with TMT1B accounts for most of S-thiol methylation activity in the endopla
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08241 Methyltransf_11 75 172 Methyltransferase domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the liver. {ECO:0000269|PubMed:37137720}.
Sequence
MDILVPLLQLLVLLLTLPLHLMALLGCWQPLCKSYFPYLMAVLTPKSNRKMESKKRELFS
QIKGLTGASGKVALLELGCGTGANFQFYPPGCRVTCLDPNPHFEKFLTKSMAENRHLQYE
RFVVAPGEDMRQLADGSMDVVVCTLVLCSVQSPRKVLQEVRRVLRPGGVLFF
WEHVAEPY
GSWAFMWQQVFEPTWKHIGDGCCLTRETWKDLENAQFSEIQMERQPPPLKWLPVGPHIMG
KAVK
Sequence length 244
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, OVARIAN EPITHELIAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONOTRUNCAL HEART MALFORMATIONS GWAS catalog
★★☆☆☆
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
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 33649426 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 28219369
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28219369, 33649426 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma CTD_human_DG 28811376
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms Endometrial neoplasm Pubtator 34337010 Stimulate
★☆☆☆☆
Found in Text Mining only
Familial multiple trichoepitheliomata Multiple Trichoepithelioma BEFREE 31616504
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 37151605 Associate
★☆☆☆☆
Found in Text Mining only
Heart Failure Heart failure Pubtator 37275875 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 37596597 Associate
★☆☆☆☆
Found in Text Mining only
Lung Neoplasms Lung neoplasms Pubtator 37275875 Associate
★☆☆☆☆
Found in Text Mining only