CTU2
entrez
348180
canonical
uniprot
Q2VPK5
canonical
ensembl
ENSG00000174177
resolver
ensp
ENSP00000308617
resolver
ensp
ENSP00000388320
resolver
ensp
ENSP00000456908
resolver
enst
ENST00000567949
resolver
genesymbol
CTU2
resolver
genesymbol_syn
C16orf84
resolver
genesymbol_syn
NCS2
resolver
hgnc
HGNC:28005
resolver
uniprot
B2RXK0
resolver
uniprot
H3BSW6
resolver
uniprot
Q0P511
resolver
uniprot
Q66K78
resolver
uniprot
Q6P4C8
resolver
uniprot
Q86SV4
resolver
uniprot_entry
CTU2_HUMAN
resolver
uniprot_entry
H3BSW6_HUMAN
resolver
uniprot_sec
B2RXK0
resolver
uniprot_sec
Q0P511
resolver
uniprot_sec
Q66K78
resolver
uniprot_sec
Q6P4C8
resolver
uniprot_sec
Q86SV4
resolver
amino_acid_sequence
MCQVGEDYGEPAPEEPPPAPRPSREQKCVKCKEAQPVVVIRAGDAFCRDCFKAFYVHKFRAMLGKNRLIFPGEKVLLAWSGGPSSSSMVWQVLEGLSQDSAKRLRFVAGVIFVDEGAACGQSLEERSKTLAEVKPILQATGFPWHVVALEEVFSLPPSVLWCSAQELVGSEGAYKAAVDSFLQQQHVLGAGGGPGPTQGEEQPPQPPLDPQNLARPPAPAQTEALSQLFCSVRTLTAKEELLQTLRTHLILHMARAHGYSKVMTGDSCTRLAIKLMTNLALGRGAFLAWDTGFSDERHGDVVVVRPMRDHTLKEVAFYNRLFSVPSVFTPAVDTKAPEKASIHRLMEAFILRLQTQFPSTVSTVYRTSEKLVKGPRDGPAAGDSGPRCLLCMCALDVDAADSATAFGAQTSSRLSQMQSPIPLTETRTPPGPCCSPGVGWAQRCGQGACRREDPQACIEEQLCYSCRVNMKDLPSLDPLPPYILAEAQLRTQRAWGLQEIRDCLIEDSDDEAGQS
uniprot
proteins
disease_involvement
DISEASE: Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MFRG) [MIM:618142]: An autosomal dominant syndrome characterized by primary microcephaly, ambiguous male genitalia, dysmorphic facies, polydactyly, and unilateral renal agenesis. Variable brain, cardiac, and skeletal anomalies are present, including corpus callosum agenesis or dysgenesis, lissencephaly, atrial and ventricular septal defects, patent ductus arteriosus, hypoplastic right ventricle, and joint contractures. {ECO:0000269|PubMed:26633546}. Note=The disease may be caused by variants affecting the gene represented in this entry. A homozygous synonymous variant at codon 247 has been identified in 3 consanguineous families. This variant impairs normal splicing, causing a frameshift resulting in a premature termination codon. {ECO:0000269|PubMed:26633546}.
uniprot
proteins
function
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 wobble position. {ECO:0000255|HAMAP-Rule:MF_03054, ECO:0000269|PubMed:19017811}.
uniprot
proteins
mass_dalton
56107
uniprot
proteins
pathway_participation
PATHWAY: tRNA modification; 5-methoxycarbonylmethyl-2-thiouridine-tRNA biosynthesis. {ECO:0000255|HAMAP-Rule:MF_03054}.
uniprot
proteins
protein_family
CTU2/NCS2 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15616553
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19017811
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26633546
uniprot
proteins
sequence_length
515
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm.
uniprot
proteins