INTS8 gene

integrator complex subunit 8

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]

From UniProt:

Component of the Integrator 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.

From NCBI Gene:

  • NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY

Cytogenetic Location: 8q22.1, which is the long (q) arm of chromosome 8 at position 22.1

Molecular Location: base pairs 94,823,287 to 94,894,664 on chromosome 8 (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)

Cytogenetic Location: 8q22.1, which is the long (q) arm of chromosome 8 at position 22.1
  • C8orf52
  • INT8
  • NEDCHS