Gene Gene information from NCBI Gene database.
Entrez ID 26995
Gene name TruB pseudouridine synthase family member 2
Gene symbol TRUB2
Synonyms (NCBI Gene)
CLONE24922
Chromosome 9
Chromosome location 9q34.11
Summary Pseudouridine is an abundant component of rRNAs and tRNAs and is enzymatically generated by isomerization of uridine by pseudouridine synthase (Zucchini et al., 2003 [PubMed 12736709]).[supplied by OMIM, Mar 2008]
miRNA miRNA information provided by mirtarbase database.
537
miRTarBase ID miRNA Experiments Reference
MIRT031822 hsa-miR-16-5p Proteomics 18668040
MIRT032411 hsa-let-7b-5p Proteomics 18668040
MIRT709968 hsa-miR-580-5p HITS-CLIP 19536157
MIRT709967 hsa-miR-105-5p HITS-CLIP 19536157
MIRT709966 hsa-miR-7853-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0001522 Process Pseudouridine synthesis IEA
GO:0003723 Function RNA binding HDA 22658674, 22681889
GO:0003723 Function RNA binding IEA
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IDA 28082677
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
610727 17170 ENSG00000167112
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O95900
Protein name Pseudouridylate synthase TRUB2, mitochondrial (EC 5.4.99.-) (TruB pseudouridine synthase homolog 2) (tRNA pseudouridine 55 synthase TRUB2) (Psi55 synthase TRUB2) (EC 5.4.99.25)
Protein function Minor enzyme contributing to the isomerization of uridine to pseudouridine (pseudouridylation) of specific mitochondrial mRNAs (mt-mRNAs) such as COXI and COXIII mt-mRNAs (PubMed:27974379, PubMed:31477916). As a component of a functional protein
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01509 TruB_N 84 233 TruB family pseudouridylate synthase (N terminal domain) Family
Sequence
MGSAGLSRLHGLFAVYKPPGLKWKHLRDTVELQLLKGLNARKPPAPKQRVRFLLGPMEGS
EEKELTLTATSVPSFINHPLVCGPAFAHLKVGVGHRLDAQASGVLVLGVGHGCRLLTDMY
NAHLTKDYTVRGLLGKATDDFREDGRLVEKTTYDHVTREKLDRILAVIQGSHQKALVMYS
NLDLKTQEAYEMAVRGLIRPMNKSPMLITGIRCLYFAPPEFLLEVQCMHETQK
ELRKLVH
EIGLELKTTAVCTQVRRTRDGFFTLDSALLRTQWDLTNIQDAIRAATPQVAAELEKSLSP
GLDTKQLPSPGWSWDSQGPSSTLGLERGAGQ
Sequence length 331
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
OBESITY GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA 10, AUTOSOMAL RECESSIVE Disgenet
★★☆☆☆
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
Stomach Neoplasms Stomach neoplasms Pubtator 34413861 Associate
★☆☆☆☆
Found in Text Mining only
Thyroid Carcinoma Anaplastic Thyroid cancer Pubtator 36609218 Associate
★☆☆☆☆
Found in Text Mining only