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

Gene ID: 26995, updated on 5-Sep-2021

Summary

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
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

See TRUB2 in Genome Data Viewer
Location:
9q34.11
Exon count:
10
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (128305159..128322447, complement)
105.20201022 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 14380 Neighboring gene uncharacterized LOC105376286 Neighboring gene coenzyme Q4 Neighboring gene tRNA-Arg (anticodon TCT) 3-1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 
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

Preferred Names
mitochondrial mRNA pseudouridine synthase TRUB2
Names
TruB pseudouridine (psi) synthase family member 2
TruB pseudouridine (psi) synthase homolog 2
probable tRNA pseudouridine synthase 2

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_001329861.2NP_001316790.1  mitochondrial mRNA pseudouridine synthase TRUB2 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_001329862.2NP_001316791.1  mitochondrial mRNA pseudouridine synthase TRUB2 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_001329863.2NP_001316792.1  mitochondrial mRNA pseudouridine synthase TRUB2 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_015679.3NP_056494.1  mitochondrial mRNA pseudouridine synthase TRUB2 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
    O95900
    UniProtKB/TrEMBL
    A0A024R886
    Related
    ENSP00000361982.4, ENST00000372890.6
    Conserved Domains (1) summary
    cd02868
    Location:11283
    PseudoU_synth_hTruB2_like; Pseudouridine synthase, humanTRUB2_like

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

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