Disease-gene associations mined from literature

Literature associating XRN2 and Rubinstein-Taybi syndrome

XRN2 [ENSP00000366396]

5'-3' exoribonuclease 2; Possesses 5'->3' exoribonuclease activity (By similarity). May promote the termination of transcription by RNA polymerase II. During transcription termination, cleavage at the polyadenylation site liberates a 5' fragment which is subsequently processed to form the mature mRNA and a 3' fragment which remains attached to the elongating polymerase. The processive degradation of this 3' fragment by this protein may promote termination of transcription. Binds to RNA polymerase II (RNAp II) transcription termination R-loops formed by G-rich pause sites.

Synonyms:  XRN2,  XRN2p,  hXRN2,  B4DZC3,  Q9H0D6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM