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

    Gene ID: 348180, updated on 17-Jun-2024

    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
    NEW
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    Genomic context

    See CTU2 in Genome Data Viewer
    Location:
    16q24.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (88706503..88715396)
    RS_2023_10 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 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

    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

    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

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

    NCBI Reference Sequences (RefSeq)

    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_001012759.3NP_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
      B2RXK0, Q0P511, Q2VPK5, Q66K78, Q6P4C8, 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/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: GCF_000001405.40-RS_2023_10

    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)