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TRUB2 TruB pseudouridine synthase family member 2 [ Homo sapiens (human) ]

Gene ID: 26995, updated on 4-Dec-2022

Summary

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Official Symbol
TRUB2provided by HGNC
Official Full Name
TruB pseudouridine synthase family member 2provided by HGNC
Primary source
HGNC:HGNC:17170
See related
Ensembl:ENSG00000167112 MIM:610727; AllianceGenome:HGNC:17170
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
CLONE24922
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]
Expression
Ubiquitous expression in kidney (RPKM 17.5), brain (RPKM 14.8) and 25 other tissues See more
Orthologs
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Genomic context

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See TRUB2 in Genome Data Viewer
Location:
9q34.11
Exon count:
10
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128305159..128322447, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140512261..140529549, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (131067438..131084726, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene dynamin 1 Neighboring gene microRNA 3154 Neighboring gene golgin A2 Neighboring gene SWI5 homologous recombination repair protein Neighboring gene Sharpr-MPRA regulatory region 12606 Neighboring gene Sharpr-MPRA regulatory region 14380 Neighboring gene uncharacterized LOC105376286 Neighboring gene coenzyme Q4 Neighboring gene tRNA-Arg (anticodon TCT) 3-1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA. Mukhopadhyay S, et al. RNA, 2021 Jan. PMID 33023933, Free PMC Article
  2. The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. Zucchini C, et al. Int J Mol Med, 2003 Jun. PMID 12736709
  3. mRNA structure determines modification by pseudouridine synthase 1. Carlile TM, et al. Nat Chem Biol, 2019 Oct. PMID 31477916, Free PMC Article
  4. The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules. Zaganelli S, et al. J Biol Chem, 2017 Mar 17. PMID 28082677, Free PMC Article
  5. A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation. Arroyo JD, et al. Cell Metab, 2016 Dec 13. PMID 27667664, Free PMC Article

See all (34) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA.
    Title: Mammalian nuclear TRUB1, mitochondrial TRUB2, and cytoplasmic PUS10 produce conserved pseudouridine 55 in different sets of tRNA.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables pseudouridine synthase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in mRNA processing IEA
Inferred from Electronic Annotation
more info
  
involved_in mRNA pseudouridine synthesis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mitochondrial translation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in tRNA processing IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrial matrix IEA
Inferred from Electronic Annotation
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in ribonucleoprotein granule IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
pseudouridylate synthase TRUB2, mitochondrial
Names
TruB pseudouridine (psi) synthase family member 2
TruB pseudouridine (psi) synthase homolog 2
mitochondrial mRNA pseudouridine synthase TRUB2
probable tRNA pseudouridine synthase 2
psi55 synthase TRUB2
tRNA pseudouridine 55 synthase TRUB2
truB pseudouridine synthase homolog 2
NP_001316790.1
NP_001316791.1
NP_001316792.1
NP_056494.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001329861.2 → NP_001316790.1  pseudouridylate synthase TRUB2, mitochondrial isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding sequence compared to variant 1. The resulting isoform (2) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AJ420462, AL359091, BC001457, BE793897, DC326376
    UniProtKB/Swiss-Prot
    O95900

  2. NM_001329862.2 → NP_001316791.1  pseudouridylate synthase TRUB2, mitochondrial isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (3) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AJ420462, AK301986, AL359091, BC001457
    UniProtKB/Swiss-Prot
    O95900

  3. NM_001329863.2 → NP_001316792.1  pseudouridylate synthase TRUB2, mitochondrial isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate exon compared to variant 1. The resulting isoform (4) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AJ420462, AL359091, BC001457, BG683069, DC326376
    UniProtKB/Swiss-Prot
    O95900

  4. NM_015679.3 → NP_056494.1  pseudouridylate synthase TRUB2, mitochondrial isoform 1

    See identical proteins and their annotated locations for NP_056494.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AJ420462, AL359091, BC001457, DC326376
    Consensus CDS
    CCDS6897.1
    UniProtKB/Swiss-Prot
    B7Z7G5, O95900
    UniProtKB/TrEMBL
    A0A024R886
    Related
    ENSP00000361982.4, ENST00000372890.6
    Conserved Domains (1) summary
    cd02868
    Location:11 → 283
    PseudoU_synth_hTruB2_like; Pseudouridine synthase, humanTRUB2_like

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

    Range
    128305159..128322447 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060933.1 Alternate T2T-CHM13v2.0

    Range
    140512261..140529549 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
O95900.1 GenPept UniProtKB/Swiss-Prot:O95900

Gene LinkOut

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