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

Gene ID: 26995, updated on 14-Nov-2024

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
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 9 NC_000009.12 (128305159..128322447, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 9 NC_060933.1 (140512261..140529549, complement)
RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 29075 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20333 Neighboring gene microRNA 3154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131017330-131017834 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131017835-131018337 Neighboring gene golgin A2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29076 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20334 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29077 Neighboring gene SWI5 homologous recombination repair protein Neighboring gene H3K27ac hESC enhancer GRCh37_chr9:131061384-131061884 Neighboring gene Sharpr-MPRA regulatory region 12606 Neighboring gene Sharpr-MPRA regulatory region 14380 Neighboring gene uncharacterized LOC105376286 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29078 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 20335 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:131095861-131096360 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131099538-131099696 Neighboring gene ReSE screen-validated silencer GRCh37_chr9:131102183-131102824 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 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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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)

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 
enables tRNA pseudouridine(55) synthase activity IEA
Inferred from Electronic Annotation
more info
  
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 mRNA pseudouridine synthesis IMP
Inferred from Mutant Phenotype
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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 
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
    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: GCF_000001405.40-RS_2024_08

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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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