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

Gene ID: 348180, updated on 6-Sep-2022

Summary

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
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Genomic context

See CTU2 in Genome Data Viewer
Location:
16q24.3
Exon count:
15
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88706503..88715396)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (94775662..94785864)
105.20220307 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 snail family transcriptional repressor 3 Neighboring gene ring finger protein 166 Neighboring gene microRNA 4722 Neighboring gene piezo type mechanosensitive ion channel component 1 Neighboring gene uncharacterized LOC100289580

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

Bibliography

Phenotypes

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
PubMed 
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
PubMed 
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
PubMed 
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

Preferred Names
cytoplasmic tRNA 2-thiolation protein 2
Names
cytosolic thiouridylase subunit 2 homolog

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_001012759.3NP_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
    Q2VPK5, Q86SV4
    Related
    ENSP00000388320.2, ENST00000453996.7
    Conserved Domains (1) summary
    pfam10288
    Location:341468
    CTU2; Cytoplasmic tRNA 2-thiolation protein 2
  2. NM_001012762.3NP_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:341468
    CTU2; Cytoplasmic tRNA 2-thiolation protein 2
  3. NM_001318507.2NP_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/Swiss-Prot
    Q2VPK5
    UniProtKB/TrEMBL
    H3BSW6
    Related
    ENSP00000456908.1, ENST00000567949.5
    Conserved Domains (1) summary
    pfam10288
    Location:412539
    CTU2; Cytoplasmic tRNA 2-thiolation protein 2
  4. NM_001318513.2NP_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:254381
    CTU2; Cytoplasmic tRNA 2-thiolation protein 2

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)