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

    Gene ID: 26995, updated on 10-Dec-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
    mouse all
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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
    • 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. 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
    2. 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
    3. 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
    4. mRNA structure determines modification by pseudouridine synthase 1. Carlile TM, et al. Nat Chem Biol, 2019 Oct. PMID 31477916, Free PMC Article
    5. A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. Antonicka H, et al. EMBO Rep, 2017 Jan. PMID 27974379, Free PMC Article

    See all (40) citations in PubMed

    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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