TSEN2
entrez
80746
canonical
uniprot
Q8NCE0
canonical
ensembl
ENSG00000154743
resolver
ensp
ENSP00000284995
resolver
ensp
ENSP00000385976
resolver
ensp
ENSP00000392029
resolver
ensp
ENSP00000406238
resolver
ensp
ENSP00000416510
resolver
ensp
ENSP00000505106
resolver
ensp
ENSP00000505274
resolver
ensp
ENSP00000505331
resolver
ensp
ENSP00000505417
resolver
ensp
ENSP00000505799
resolver
ensp
ENSP00000505979
resolver
ensp
ENSP00000506163
resolver
ensp
ENSP00000506578
resolver
ensp
ENSP00000547436
resolver
ensp
ENSP00000547439
resolver
ensp
ENSP00000547441
resolver
ensp
ENSP00000628205
resolver
ensp
ENSP00000697282
resolver
enst
ENST00000446004
resolver
enst
ENST00000679492
resolver
enst
ENST00000680275
resolver
enst
ENST00000680354
resolver
enst
ENST00000680458
resolver
enst
ENST00000680857
resolver
enst
ENST00000877380
resolver
genesymbol
TSEN2
resolver
genesymbol_syn
SEN2
resolver
hgnc
HGNC:28422
resolver
uniprot
A0A7P0T8F8
resolver
uniprot
A0A7P0T914
resolver
uniprot
A0A7P0TA86
resolver
uniprot
B7Z6K1
resolver
uniprot
C9IZI7
resolver
uniprot
C9J7Z4
resolver
uniprot
G5E9Q3
resolver
uniprot
Q8WTW7
resolver
uniprot
Q9BPU7
resolver
uniprot_entry
A0A7P0T8F8_HUMAN
resolver
uniprot_entry
A0A7P0T914_HUMAN
resolver
uniprot_entry
A0A7P0TA86_HUMAN
resolver
uniprot_entry
C9J7Z4_HUMAN
resolver
uniprot_entry
SEN2_HUMAN
resolver
uniprot_sec
B7Z6K1
resolver
uniprot_sec
C9IZI7
resolver
uniprot_sec
G5E9Q3
resolver
uniprot_sec
Q8WTW7
resolver
uniprot_sec
Q9BPU7
resolver
amino_acid_sequence
MAEAVFHAPKRKRRVYETYESPLPIPFGQDHGPLKEFKIFRAEMINNNVIVRNAEDIEQLYGKGYFGKGILSRSRPSFTISDPKLVAKWKDMKTNMPIITSKRYQHSVEWAAELMRRQGQDESTVRRILKDYTKPLEHPPVKRNEEAQVHDKLNSGMVSNMEGTAGGERPSVVNGDSGKSGGVGDPREPLGCLQEGSGCHPTTESFEKSVREDASPLPHVCCCKQDALILQRGLHHEDGSQHIGLLHPGDRGPDHEYVLVEEAECAMSEREAAPNEELVQRNRLICRRNPYRIFEYLQLSLEEAFFLVYALGCLSIYYEKEPLTIVKLWKAFTVVQPTFRTTYMAYHYFRSKGWVPKVGLKYGTDLLLYRKGPPFYHASYSVIIELVDDHFEGSLRRPLSWKSLAALSRVSVNVSKELMLCYLIKPSTMTDKEMESPECMKRIKVQEVILSRWVSSRERSDQDDL
uniprot
proteins
disease_involvement
DISEASE: Pontocerebellar hypoplasia 2B (PCH2B) [MIM:612389]: A disorder characterized by an abnormally small cerebellum and brainstem, and progressive microcephaly from birth combined with extrapyramidal dyskinesia. Severe chorea occurs and epilepsy is frequent. There are no signs of spinal cord anterior horn cells degeneration. {ECO:0000269|PubMed:18711368}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
4.6.1.16
uniprot
proteins
function
FUNCTION: Constitutes one of the two catalytic subunit of the tRNA-splicing endonuclease complex, a complex responsible for identification and cleavage of the splice sites in pre-tRNA. It cleaves pre-tRNA at the 5'- and 3'-splice sites to release the intron. The products are an intron and two tRNA half-molecules bearing 2',3'-cyclic phosphate and 5'-OH termini. There are no conserved sequences at the splice sites, but the intron is invariably located at the same site in the gene, placing the splice sites an invariant distance from the constant structural features of the tRNA body. Isoform 1 probably carries the active site for 5'-splice site cleavage. The tRNA splicing endonuclease is also involved in mRNA processing via its association with pre-mRNA 3'-end processing factors, establishing a link between pre-tRNA splicing and pre-mRNA 3'-end formation, suggesting that the endonuclease subunits function in multiple RNA-processing events. Isoform 2 is responsible for processing a yet unknown RNA substrate. The complex containing isoform 2 is not able to cleave pre-tRNAs properly, although it retains endonucleolytic activity. {ECO:0000269|PubMed:15109492}.
uniprot
proteins
mass_dalton
53247
uniprot
proteins
protein_family
TRNA-intron endonuclease family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15109492
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16641997
uniprot
proteins
pubmed
18711368
uniprot
proteins
sequence_length
465
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:15109492}. Nucleus, nucleolus {ECO:0000269|PubMed:15109492}. Note=May be transiently localized in the nucleolus.
uniprot
proteins