CTU2 (cytosolic thiouridylase subunit 2)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 348180
Gene name Cytosolic thiouridylase subunit 2
Gene symbol CTU2
Synonyms (NCBI Gene)
C16orf84MFRGNCS2UPF0432
Chromosome 16
Chromosome location 16q24.3
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 c
SNPs SNP information provided by dbSNP.
4
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs147948789 T>C Pathogenic Coding sequence variant, 5 prime UTR variant, intron variant, missense variant
rs769481947 G>A,T Pathogenic Coding sequence variant, synonymous variant
rs1351549465 G>A,T Pathogenic Intron variant
rs1597434884 ->T Pathogenic Coding sequence variant, frameshift variant
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (15)
GO ID Ontology Definition Evidence Reference
GO:0000049 Function TRNA binding IEA
GO:0002098 Process TRNA wobble uridine modification IEA
GO:0002098 Process TRNA wobble uridine modification NAS 19017811
GO:0002143 Process TRNA wobble position uridine thiolation IBA
GO:0005515 Function Protein binding IPI 19017811
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617057 28005 ENSG00000174177
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q2VPK5
Protein name Cytoplasmic tRNA 2-thiolation protein 2 (Cytosolic thiouridylase subunit 2)
Protein function Plays a central role in 2-thiolation of mcm(5)S(2)U at tRNA wobble positions of tRNA(Lys), tRNA(Glu) and tRNA(Gln). May act by forming a heterodimer with CTU1/ATPBD3 that ligates sulfur from thiocarboxylated URM1 onto the uridine of tRNAs at wob
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF10288 CTU2 341 → 468 Cytoplasmic tRNA 2-thiolation protein 2 Family
Sequence 
MCQVGEDYGEPAPEEPPPAPRPSREQKCVKCKEAQPVVVIRAGDAFCRDCFKAFYVHKFR
AMLGKNRLIFPGEKVLLAWSGGPSSSSMVWQVLEGLSQDSAKRLRFVAGVIFVDEGAACG
QSLEERSKTLAEVKPILQATGFPWHVVALEEVFSLPPSVLWCSAQELVGSEGAYKAAVDS
FLQQQHVLGAGGGPGPTQGEEQPPQPPLDPQNLARPPAPAQTEALSQLFCSVRTLTAKEE
LLQTLRTHLILHMARAHGYSKVMTGDSCTRLAIKLMTNLALGRGAFLAWDTGFSDERHGD
VVVVRPMRDHTLKEVAFYNRLFSVPSVFTPAVDTKAPEKASIHRLMEAFILRLQTQFPST
VSTVYRTSEKLVKGPRDGPAAGDSGPRCLLCMCALDVDAADSATAFGAQTSSRLSQMQSP
IPLTETRTPPGPCCSPGVGWAQRCGQGACRREDPQACIEEQLCYSCRVNMKDLPSLDPLP
PYILAEAQLRTQRAWGLQEIRDCLIEDSDDEAGQS
Sequence length 515
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Sulfur relay system   tRNA modification in the nucleus and cytosol
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
81
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Microcephaly Pathogenic rs769481947 RCV004798859
Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome Likely pathogenic; Pathogenic rs201104411, rs769481947, rs1597434884, rs779980669, rs1351549465 RCV005412150
RCV000709622
RCV000984614
RCV000984616
RCV000984617
Show/Hide Unknown Diseases (10)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs2290895 RCV005926155
Colorectal cancer Benign rs2290895 RCV005926158
Congenital anomaly of kidney and urinary tract Benign; Likely benign rs139862860 RCV001849613
CTU2-related disorder Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance rs201215099, rs8043637, rs11641194, rs141967170, rs4782321, rs137933845, rs73262673, rs4782320, rs11549835, rs78212226, rs200518996, rs140091320, rs200076111, rs148239801, rs759082825
View all (27 more)		 RCV003980705
RCV003975813
RCV003975829
RCV003923414
RCV003978720
RCV003913498
RCV003978491
RCV003970918
RCV003978698
RCV003970949
RCV003978497
RCV003978566
RCV003963400
RCV003961221
RCV003936403
RCV003961265
RCV003963472
RCV003954066
RCV003919355
RCV003896269
RCV003896304
RCV003904371
RCV003911977
RCV003912263
RCV003977030
RCV003951588
RCV003959323
RCV003951472
RCV003951503
RCV003947164
RCV003952232
RCV003944617
RCV003972254
RCV003965582
RCV003970706
RCV003960606
RCV003928449
RCV003916043
RCV003918566
RCV003910587
RCV003940534
RCV003958332
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Congenital Abnormalities Associate 32604767
Intellectual Disability Associate 32604767
Language Development Disorders Associate 32604767
Neoplasms Stimulate 32581364
NF1 Microduplication Syndrome Associate 32604767
Pulmonary Disease Chronic Obstructive Associate 28621160
Syndrome Associate 26633546