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

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: mouse all
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Genomic context

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_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

Associated conditions

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

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

RH102515 (e-PCR)
- UniSTS:96849

STS-F04536 (e-PCR)
- UniSTS:52590

G20474 (e-PCR)
- UniSTS:52591

A005T04 (e-PCR)
- UniSTS:52592

WI-20444 (e-PCR)
- UniSTS:44189

Homology

Homologs of the TRUB2 gene: The TRUB2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 420 organisms have orthologs with human gene TRUB2
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	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

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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)

NM_001329861.2 → NP_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
NM_001329862.2 → NP_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
NM_001329863.2 → NP_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
NM_015679.3 → NP_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:11 → 283

PseudoU_synth_hTruB2_like; Pseudouridine synthase, humanTRUB2_like