Skip to content
GenoLensGenoLens

INTS11

Chr 1p36.33

integrator complex subunit 11

Aliases:
FLJ20542, RC-68, CPSF73L, INT11
MANE:
ENST00000435064.6

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ataxia and cerebellar anomalies - narrow panel

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal
  • Intellectual disability

    BIALLELIC, autosomal or pseudoautosomal
  • Severe microcephaly

    BIALLELIC, autosomal or pseudoautosomal
  • Optic neuropathy

    BIALLELIC, autosomal or pseudoautosomal
  • Retinal disorders

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities

    0.73
  • ulcerative colitis

    0.09
  • infection

    0.06
  • liver disorder

    0.05
  • inflammatory bowel disease

    0.04
  • Hallux valgus

    0.04
  • Inguinal hernia

    0.02
  • neurodevelopmental disorder

    0.02
  • cancer

    0.02
  • ulcerative proctosigmoiditis

    0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Integrator complex subunit 11

RNA endonuclease component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:16239144, PubMed:25201415, PubMed:28396433, PubMed:32697989, PubMed:33243860, PubMed:33548203, PubMed:34762484, PubMed:37080207, PubMed:38570683). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:32697989, PubMed:33243860, PubMed:33548203, PubMed:34762484, PubMed:37080207, PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144, PubMed:22252320, PubMed:26308897, PubMed:30737432). Within the integrator complex, INTS11 constitutes the RNA endonuclease subunit that degrades exiting nascent RNA transcripts (PubMed:28396433, PubMed:32697989, PubMed:33243860, PubMed:33548203, PubMed:34762484, PubMed:37080207, PubMed:38570683). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.