Gene Gene information from NCBI Gene database.
Entrez ID 144233
Gene name BCDIN3 domain containing RNA methyltransferase
Gene symbol BCDIN3D
Synonyms (NCBI Gene)
-
Chromosome 12
Chromosome location 12q13.12
Summary This gene encodes an RNA methyltransferase which belongs to the rossmann fold methyltransferase family, and serves as a 5`-methylphosphate capping enzyme that is specific for cytoplasmic histidyl tRNA. The encoded protein contains an S-adenosylmethionine
miRNA miRNA information provided by mirtarbase database.
354
miRTarBase ID miRNA Experiments Reference
MIRT040744 hsa-miR-455-5p CLASH 23622248
MIRT037166 hsa-miR-877-3p CLASH 23622248
MIRT817893 hsa-miR-106a CLIP-seq
MIRT817894 hsa-miR-106b CLIP-seq
MIRT817895 hsa-miR-1193 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
24
GO ID Ontology Definition Evidence Reference
GO:0001510 Process RNA methylation IDA 33664453
GO:0005515 Function Protein binding IPI 25416956
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IDA 23063121
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
619601 27050 ENSG00000186666
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z5W3
Protein name RNA 5'-monophosphate methyltransferase (EC 2.1.1.-) (BCDIN3 domain-containing protein)
Protein function O-methyltransferase that specifically monomethylates 5'-monophosphate of cytoplasmic histidyl tRNA (tRNA(His)), acting as a capping enzyme by protecting tRNA(His) from cleavage by DICER1 (PubMed:28119416, PubMed:31329584, PubMed:31919512). Also
PDB 6L8U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF06859 Bin3 158 264 Bicoid-interacting protein 3 (Bin3) Family
Sequence
MAVPTELDGGSVKETAAEEESRVLAPGAAPFGNFPHYSRFHPPEQRLRLLPPELLRQLFP
ESPENGPILGLDVGCNSGDLSVALYKHFLSLPDGETCSDASREFRLLCCDIDPVLVKRAE
KECPFPDALTFITLDFMNQRTRKVLLSSFLSQFGRSVFDIGFCMSITMWIHLNHGDHGLW
EFLAHLSSLCHYLLVEPQPWKCYRAAARRLRKLGLHDFDHFHSLAIRGDMPNQIVQILTQ
DHGMELICCFGNTSWDRSLLLFRA
KQTIETHPIPESLIEKGKEKNRLSFQKQ
Sequence length 292
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    MicroRNA (miRNA) biogenesis
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
METABOLIC SYNDROME GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Oromandibular-limb hypogenesis spectrum Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS 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
Breast Carcinoma Breast Carcinoma BEFREE 28119416, 30127802, 31145769
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23063121, 27259993, 31919512, 33664453 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 28119416 Stimulate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 33664453 Associate
★☆☆☆☆
Found in Text Mining only
Hyperparathyroidism Primary Hyperparathyroidism Pubtator 36102151 Associate
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 28119416, 30127802, 31145769
★☆☆☆☆
Found in Text Mining only
Obesity Obesity Pubtator 23349760, 33664453 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms Triple negative breast cancer Pubtator 27259993 Associate
★☆☆☆☆
Found in Text Mining only