CTU2 (cytosolic thiouridylase subunit 2)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
348180
Gene name Gene Name - the full gene name approved by the HGNC.
Cytosolic thiouridylase subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTU2
Synonyms (NCBI Gene) Gene synonyms aliases
C16orf84, MFRG, NCS2, UPF0432
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
617057 28005 ENSG00000174177
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome rs1597434884, rs779980669, rs1351549465, rs769481947 N/A
Microcephaly microcephaly rs769481947 N/A
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease 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