EXOSC2
entrez
23404
canonical
uniprot
Q13868
canonical
ensembl
ENSG00000130713
resolver
ensp
ENSP00000361426
resolver
ensp
ENSP00000361433
resolver
ensp
ENSP00000444917
resolver
genesymbol
EXOSC2
resolver
genesymbol_syn
RRP4
resolver
hgnc
HGNC:17097
resolver
uniprot
A3KFL3
resolver
uniprot
A3KFL4
resolver
uniprot
B3KQW2
resolver
uniprot
B4DKK6
resolver
uniprot
Q9NUY4
resolver
uniprot_entry
B3KQW2_HUMAN
resolver
uniprot_entry
EXOS2_HUMAN
resolver
uniprot_sec
A3KFL3
resolver
uniprot_sec
A3KFL4
resolver
uniprot_sec
B4DKK6
resolver
uniprot_sec
Q9NUY4
resolver
amino_acid_sequence
MAMEMRLPVARKPLSERLGRDTKKHLVVPGDTITTDTGFMRGHGTYMGEEKLIASVAGSVERVNKLICVKALKTRYIGEVGDIVVGRITEVQQKRWKVETNSRLDSVLLLSSMNLPGGELRRRSAEDELAMRGFLQEGDLISAEVQAVFSDGAVSLHTRSLKYGKLGQGVLVQVSPSLVKRQKTHFHDLPCGASVILGNNGFIWIYPTPEHKEEEAGGFIANLEPVSLADREVISRLRNCIISLVTQRMMLYDTSILYCYEASLPHQIKDILKPEIMEEIVMETRQRLLEQEG
uniprot
proteins
disease_involvement
DISEASE: Short stature, hearing loss, retinitis pigmentosa, and distinctive facies (SHRF) [MIM:617763]: An autosomal recessive disorder characterized by childhood myopia, early onset retinitis pigmentosa, progressive sensorineural hearing loss, hypothyroidism, short stature, brachydactyly, recognisable facial gestalt, premature aging and mild intellectual disability. {ECO:0000269|PubMed:26843489}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Non-catalytic component of the RNA exosome complex which has 3'->5' exoribonuclease activity and participates in a multitude of cellular RNA processing and degradation events. In the nucleus, the RNA exosome complex is involved in proper maturation of stable RNA species such as rRNA, snRNA and snoRNA, in the elimination of RNA processing by-products and non-coding 'pervasive' transcripts, such as antisense RNA species and promoter-upstream transcripts (PROMPTs), and of mRNAs with processing defects, thereby limiting or excluding their export to the cytoplasm. The RNA exosome may be involved in Ig class switch recombination (CSR) and/or Ig variable region somatic hypermutation (SHM) by targeting AICDA deamination activity to transcribed dsDNA substrates. In the cytoplasm, the RNA exosome complex is involved in general mRNA turnover and specifically degrades inherently unstable mRNAs containing AU-rich elements (AREs) within their 3' untranslated regions, and in RNA surveillance pathways, preventing translation of aberrant mRNAs. It seems to be involved in degradation of histone mRNA. The catalytic inactive RNA exosome core complex of 9 subunits (Exo-9) is proposed to play a pivotal role in the binding and presentation of RNA for ribonucleolysis, and to serve as a scaffold for the association with catalytic subunits and accessory proteins or complexes. EXOSC2 as peripheral part of the Exo-9 complex stabilizes the hexameric ring of RNase PH-domain subunits through contacts with EXOSC4 and EXOSC7. {ECO:0000269|PubMed:17545563}.
uniprot
proteins
mass_dalton
32789
uniprot
proteins
protein_family
RRP4 family
uniprot
proteins
pubmed
10465791
uniprot
proteins
pubmed
11719186
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15687258
uniprot
proteins
pubmed
17174896
uniprot
proteins
pubmed
17545563
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
20068231
uniprot
proteins
pubmed
20531389
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
21515746
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
26166824
uniprot
proteins
pubmed
26843489
uniprot
proteins
pubmed
29906447
uniprot
proteins
pubmed
30047866
uniprot
proteins
pubmed
8600032
uniprot
proteins
pubmed
9390555
uniprot
proteins
sequence_length
293
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm. Nucleus, nucleolus. Nucleus.
uniprot
proteins