DISEASES

Disease-gene associations mined from literature

Literature associating INTS9 and von Willebrand's disease 3

INTS9 [ENSP00000429065]

Protein related to CPSF subunits of 74 kDa; Component of the Integrator (INT) complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex.

Synonyms:  INTS9,  INTS9p,  hINTS9,  E5RG70,  E5RGY2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM