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] See more...

Aliases for TRUB2 Gene

Aliases for TRUB2 Gene

  • TruB Pseudouridine Synthase Family Member 2 2 3 5
  • TruB Pseudouridine (Psi) Synthase Family Member 2 2 3
  • Mitochondrial MRNA Pseudouridine Synthase TRUB2 3 4
  • CLONE24922 2 3
  • TruB Pseudouridine (Psi) Synthase Homolog 2 (E. Coli) 2
  • TruB Pseudouridine (Psi) Synthase Homolog 2 3
  • Probable TRNA Pseudouridine Synthase 2 3
  • EC 5.4.99.- 4
  • TRUB2 5

External Ids for TRUB2 Gene

Previous GeneCards Identifiers for TRUB2 Gene

  • GC09U990211
  • GC09M126447
  • GC09M128150
  • GC09M130111
  • GC09M131071
  • GC09M100684
  • GC09M128309
  • GC09M128311
  • GC09M128317
  • GC09M128322
  • GC09M128327

Summaries for TRUB2 Gene

Entrez Gene Summary for TRUB2 Gene

  • 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]

GeneCards Summary for TRUB2 Gene

TRUB2 (TruB Pseudouridine Synthase Family Member 2) is a Protein Coding gene. Diseases associated with TRUB2 include Dyskeratosis Congenita and Myopathy, Lactic Acidosis, And Sideroblastic Anemia. Gene Ontology (GO) annotations related to this gene include pseudouridine synthase activity.

UniProtKB/Swiss-Prot Summary for TRUB2 Gene

  • 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). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRUB2 Gene

Genomics for TRUB2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRUB2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRUB2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRUB2

Top Transcription factor binding sites by QIAGEN in the TRUB2 gene promoter:
  • AML1a
  • GCNF
  • GCNF-1
  • GCNF-2
  • NF-1
  • NRSF form 1
  • NRSF form 2
  • Olf-1
  • p300

Genomic Locations for TRUB2 Gene

Latest Assembly
chr9:128,305,159-128,322,447
(GRCh38/hg38)
Size:
17,289 bases
Orientation:
Minus strand

Previous Assembly
chr9:131,067,438-131,084,726
(GRCh37/hg19 by Entrez Gene)
Size:
17,289 bases
Orientation:
Minus strand

chr9:131,071,382-131,085,021
(GRCh37/hg19 by Ensembl)
Size:
13,640 bases
Orientation:
Minus strand

Genomic View for TRUB2 Gene

Genes around TRUB2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRUB2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRUB2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRUB2 Gene

Proteins for TRUB2 Gene

  • Protein details for TRUB2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95900-TRUB2_HUMAN
    Recommended name:
    Mitochondrial mRNA pseudouridine synthase TRUB2
    Protein Accession:
    O95900
    Secondary Accessions:
    • B7Z7G5

    Protein attributes for TRUB2 Gene

    Size:
    331 amino acids
    Molecular mass:
    36694 Da
    Quaternary structure:
    • Forms a regulatory protein-RNA complex, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA.

    Alternative splice isoforms for TRUB2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRUB2 Gene

Post-translational modifications for TRUB2 Gene

  • Ubiquitination at Lys36
  • Modification sites at PhosphoSitePlus

Other Protein References for TRUB2 Gene

No data available for DME Specific Peptides for TRUB2 Gene

Domains & Families for TRUB2 Gene

Gene Families for TRUB2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TRUB2 Gene

InterPro:
Blocks:
  • Pseudouridylate synthase TruB, N-terminal

Suggested Antigen Peptide Sequences for TRUB2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ52131, highly similar to Homo sapiens TruB pseudouridine (psi) synthase homolog 2 (TRUB2), mRNA (B7Z7G5_HUMAN)
  • Probable tRNA pseudouridine synthase 2 (TRUB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95900

UniProtKB/Swiss-Prot:

TRUB2_HUMAN :
  • Belongs to the pseudouridine synthase TruB family.
Family:
  • Belongs to the pseudouridine synthase TruB family.
genes like me logo Genes that share domains with TRUB2: view

Function for TRUB2 Gene

Molecular function for TRUB2 Gene

UniProtKB/Swiss-Prot 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). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a uridine in mRNA = a pseudouridine in mRNA; Xref=Rhea:RHEA:56644, Rhea:RHEA-COMP:14658, Rhea:RHEA-COMP:14659, ChEBI:CHEBI:65314, ChEBI:CHEBI:65315; Evidence={ECO:0000305|PubMed:27974379};.

Enzyme Numbers (IUBMB) for TRUB2 Gene

Phenotypes From GWAS Catalog for TRUB2 Gene

Gene Ontology (GO) - Molecular Function for TRUB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0009982 pseudouridine synthase activity IEA --
GO:0016853 isomerase activity IEA --
genes like me logo Genes that share ontologies with TRUB2: view
genes like me logo Genes that share phenotypes with TRUB2: view

Animal Models for TRUB2 Gene

MGI Knock Outs for TRUB2:
  • Trub2 Trub2<tm2a(EUCOMM)Wtsi>

miRNA for TRUB2 Gene

miRTarBase miRNAs that target TRUB2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRUB2

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TRUB2 Gene

Localization for TRUB2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRUB2 Gene

Mitochondrion matrix. Note=Localizes to mitochondrial RNA granules, platforms for post-transcriptional RNA modification and ribosome assembly. {ECO:0000269 PubMed:27974379, ECO:0000269 PubMed:28082677}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRUB2 gene
Compartment Confidence
mitochondrion 4
cytosol 3
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for TRUB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with TRUB2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRUB2 Gene

Pathways & Interactions for TRUB2 Gene

PathCards logo

SuperPathways for TRUB2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TRUB2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001522 pseudouridine synthesis IEA --
GO:0006396 RNA processing IEA --
GO:0006397 mRNA processing IEA --
GO:0009451 RNA modification IEA --
GO:0070131 positive regulation of mitochondrial translation IMP 27667664
genes like me logo Genes that share ontologies with TRUB2: view

No data available for Pathways by source and SIGNOR curated interactions for TRUB2 Gene

Drugs & Compounds for TRUB2 Gene

(1) Additional Compounds for TRUB2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pseudouridine
  • (1S)-1,4-Anhydro-1-(2,4-dioxo-1,2,3,4-tetrahydropyrimidin-5-yl)-D-ribitol
  • 5-(beta-D-Ribofuranosyl)uracil
  • beta-Pseudouridine
  • p
  • Psi-uridine
1445-07-4
genes like me logo Genes that share compounds with TRUB2: view

Transcripts for TRUB2 Gene

mRNA/cDNA for TRUB2 Gene

4 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRUB2

Alternative Splicing Database (ASD) splice patterns (SP) for TRUB2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for TRUB2 Gene

GeneLoc Exon Structure for
TRUB2

Expression for TRUB2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRUB2 Gene

Protein differential expression in normal tissues from HIPED for TRUB2 Gene

This gene is overexpressed in Heart (58.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TRUB2 Gene



Protein tissue co-expression partners for TRUB2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRUB2

SOURCE GeneReport for Unigene cluster for TRUB2 Gene:

Hs.632685

Evidence on tissue expression from TISSUES for TRUB2 Gene

  • Nervous system(4.8)
  • Skin(2.3)
genes like me logo Genes that share expression patterns with TRUB2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRUB2 Gene

Orthologs for TRUB2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for TRUB2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TRUB2 29 30
  • 99.09 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TRUB2 29 30
  • 84.14 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TRUB2 29 30
  • 82.72 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Trub2 29 16 30
  • 81.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trub2 29
  • 79.18 (n)
Oppossum
(Monodelphis domestica)
Mammalia TRUB2 30
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TRUB2 30
  • 68 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TRUB2 29 30
  • 62.06 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRUB2 30
  • 60 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia trub2 29
  • 63.64 (n)
Str.15106 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.13716 29
Zebrafish
(Danio rerio)
Actinopterygii trub2 29 30
  • 58.33 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG7849 29 30
  • 47.13 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002077 29
  • 46.34 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y43B11AR.3 30
  • 21 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PUS4 30
  • 14 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 31 (a)
OneToOne
Species where no ortholog for TRUB2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TRUB2 Gene

ENSEMBL:
Gene Tree for TRUB2 (if available)
TreeFam:
Gene Tree for TRUB2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRUB2: view image
Alliance of Genome Resources:
Additional Orthologs for TRUB2

Paralogs for TRUB2 Gene

No data available for Paralogs for TRUB2 Gene

Variants for TRUB2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRUB2 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs2231642 Benign: not provided 128,309,643(-) C/T
NM_015679.3(TRUB2):c.903G>A (p.Gly301=)
SYNONYMOUS
rs2072394 -- p.Val93Leu
rs2231630 -- p.Pro79Leu
rs2231637 -- p.Thr209Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TRUB2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TRUB2 Gene

Variant ID Type Subtype PubMed ID
nsv1132225 CNV deletion 24896259
nsv831728 CNV loss 17160897

Variation tolerance for TRUB2 Gene

Residual Variation Intolerance Score: 85.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.94% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRUB2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRUB2
Leiden Open Variation Database (LOVD)
TRUB2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRUB2 Gene

Disorders for TRUB2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for TRUB2 Gene - From: COP and GCD

Disorder Aliases PubMed IDs
dyskeratosis congenita
  • zinsser-cole-engman syndrome
myopathy, lactic acidosis, and sideroblastic anemia
  • myopathy with lactic acidosis and sideroblastic anaemia
- elite association - COSMIC cancer census association via MalaCards
Search TRUB2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TRUB2

genes like me logo Genes that share disorders with TRUB2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRUB2 Gene

Publications for TRUB2 Gene

  1. The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. (PMID: 12736709) Zucchini C … Valvassori L (International journal of molecular medicine 2003) 2 3 4 22
  2. A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation. (PMID: 27667664) Arroyo JD … Mootha VK (Cell metabolism 2016) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for TRUB2 Gene

Sources for TRUB2 Gene