U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

CTU2 cytosolic thiouridylase subunit 2 [ Homo sapiens (human) ]

Gene ID: 348180, updated on 28-Oct-2024

Summary

Go to the top of the page Help
Official Symbol
CTU2provided by HGNC
Official Full Name
cytosolic thiouridylase subunit 2provided by HGNC
Primary source
HGNC:HGNC:28005
See related
Ensembl:ENSG00000174177 MIM:617057; AllianceGenome:HGNC:28005
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MFRG; NCS2; UPF0432; C16orf84
Summary
This gene encodes a protein which is involved in the post-transcriptional modification of transfer RNAs (tRNAs). The encoded protein plays a role in thiolation of uridine residue present at the wobble position in a subset of tRNAs, resulting in enhanced codon reading accuracy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]
Expression
Ubiquitous expression in testis (RPKM 3.9), brain (RPKM 2.8) and 25 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

Go to the top of the page Help
See CTU2 in Genome Data Viewer
Location:
16q24.3
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88706503..88715396)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94775662..94785864)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (88772911..88781804)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene SNAI3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88743941-88744698 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:88744699-88745454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:88747432-88748253 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11364 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11365 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7868 Neighboring gene snail family transcriptional repressor 3 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:88756108-88756282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7869 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11366 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11368 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:88772291-88772928 Neighboring gene ring finger protein 166 Neighboring gene microRNA 4722 Neighboring gene piezo type mechanosensitive ion channel component 1 (Er blood group) Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7872 Neighboring gene HSP90AB1 associated lncRNA 1

Genomic regions, transcripts, and products

Go to the top of the page Help

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help
  • 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

Go to the top of the pageHelp

Related articles in PubMed

  1. Activation of CTU2 expression by LXR promotes the development of hepatocellular carcinoma. Xue C, et al. Cell Biol Toxicol, 2024 Apr 17. PMID 38630355, Free PMC Article
  2. Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34. Shaheen R, et al. Hum Mutat, 2019 Nov. PMID 31301155
  3. A genome-wide association study of autism using the Simons Simplex Collection: Does reducing phenotypic heterogeneity in autism increase genetic homogeneity? Chaste P, et al. Biol Psychiatry, 2015 May 1. PMID 25534755, Free PMC Article
  4. A functional proteomics approach links the ubiquitin-related modifier Urm1 to a tRNA modification pathway. Schlieker CD, et al. Proc Natl Acad Sci U S A, 2008 Nov 25. PMID 19017811, Free PMC Article
  5. HectD1 controls hematopoietic stem cell regeneration by coordinating ribosome assembly and protein synthesis. Lv K, et al. Cell Stem Cell, 2021 Jul 1. PMID 33711283, Free PMC Article

See all (25) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Activation of CTU2 expression by LXR promotes the development of hepatocellular carcinoma.
    Title: Activation of CTU2 expression by LXR promotes the development of hepatocellular carcinoma.
  2. Our data establish a recognizable CTU2-linked autosomal recessive syndrome in humans characterized by defective thiolation of the wobble uridine. The potential deleterious consequences for the translational efficiency and fidelity during development as a mechanism for pathogenicity represent an attractive target of future investigations.
    Title: Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
  3. Identifies the product of this gene as being involved in tRNA modification.
    Title: A functional proteomics approach links the ubiquitin-related modifier Urm1 to a tRNA modification pathway.
Submit: New GeneRIF Correction

Phenotypes

Go to the top of the page Help

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
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome
MedGen: C4748348 OMIM: 618142 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
A Genome-wide Association Study of Autism Using the Simons Simplex Collection: Does Reducing Phenotypic Heterogeneity in Autism Increase Genetic Homogeneity?
EBI GWAS Catalog
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

Go to the top of the page

Interactions

Go to the top of the page Help
Products Interactant Other Gene Complex Source Pubs Description

General gene information

Go to the top of the page Help

Markers

Homology

Clone Names

  • MGC131681, MGC148063, MGC148064

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nucleotidyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sulfurtransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables tRNA binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in protein urmylation IEA
Inferred from Electronic Annotation
more info
  
involved_in tRNA thio-modification NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in tRNA wobble position uridine thiolation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in tRNA wobble uridine modification NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  
part_of protein-containing complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

Go to the top of the page Help
Preferred Names
cytoplasmic tRNA 2-thiolation protein 2
Names
cytosolic thiouridylase subunit 2 homolog

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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_001012759.3 → NP_001012777.1  cytoplasmic tRNA 2-thiolation protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001012777.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. It encodes isoform 1, which lacks an internal in-frame segment and is shorter, compared to isoform 3.
    Source sequence(s)
    AA448486, AC138028, BC080540, BC125269
    Consensus CDS
    CCDS45545.1
    UniProtKB/Swiss-Prot
    B2RXK0, Q0P511, Q2VPK5, Q66K78, Q6P4C8, Q86SV4
    Related
    ENSP00000388320.2, ENST00000453996.7
    Conserved Domains (1) summary
    pfam10288
    Location:341 → 468
    CTU2; Cytoplasmic tRNA 2-thiolation protein 2

  2. NM_001012762.3 → NP_001012780.1  cytoplasmic tRNA 2-thiolation protein 2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region and lacks an alternate exon in the 3' coding region, resulting in a frameshift and an early stop codon, compared to variant 3. The encoded isoform 2 is shorter and has a distinct C-terminus, compared to isoform 3.
    Source sequence(s)
    AA448486, AC138028, BC021829, BC080540, BC121805
    Consensus CDS
    CCDS32506.1
    UniProtKB/Swiss-Prot
    Q2VPK5
    Related
    ENSP00000308617.5, ENST00000312060.9
    Conserved Domains (1) summary
    pfam10288
    Location:341 → 468
    CTU2; Cytoplasmic tRNA 2-thiolation protein 2

  3. NM_001318507.2 → NP_001305436.1  cytoplasmic tRNA 2-thiolation protein 2 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript and encodes the longest isoform (3).
    Source sequence(s)
    AA448486, AC138028, BC063512, BC080540, BI520274
    Consensus CDS
    CCDS82026.1
    UniProtKB/TrEMBL
    H3BSW6
    Related
    ENSP00000456908.1, ENST00000567949.5
    Conserved Domains (1) summary
    pfam10288
    Location:412 → 539
    CTU2; Cytoplasmic tRNA 2-thiolation protein 2

  4. NM_001318513.2 → NP_001305442.1  cytoplasmic tRNA 2-thiolation protein 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, lacks a portion of the 5' coding region, uses a downstream start codon and uses an alternate in-frame splice site in the 5' coding region, compared to variant 3. It encodes isoform 4, which is shorter than isoform 3.
    Source sequence(s)
    AA448486, AC138028, BC080540, BC121805, BC125269
    UniProtKB/Swiss-Prot
    Q2VPK5
    Conserved Domains (1) summary
    pfam10288
    Location:254 → 381
    CTU2; Cytoplasmic tRNA 2-thiolation protein 2

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_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    88706503..88715396
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    94775662..94785864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q2VPK5.1 GenPept UniProtKB/Swiss-Prot:Q2VPK5

Gene LinkOut

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

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous