HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
INTS11
integrator complex subunit 11
Chromosome 1 Β· 1p36.33
NCBI Gene: 54973Ensembl: ENSG00000127054.22HGNC: HGNC:26052UniProt: A0A087WYI0
79PubMed Papers
21Diseases
0Drugs
6Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingRNA endonuclease activitysnRNA processingregulation of transcription elongation by RNA polymerase IIneurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalitiesulcerative colitisinfectioninflammatory bowel disease
✦AI Summary

INTS11 is the catalytic RNA endonuclease subunit of the Integrator complex, a multiprotein assembly that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region 12. INTS11 executes a quality control checkpoint during transcription elongation by degrading nascent RNA transcripts through its metal-dependent endonucleolytic activity, while the Integrator complex simultaneously dephosphorylates Pol II and promotes its release from DNA 345. The complex regulates synthesis termination of both coding and non-coding transcripts, including enhancer RNAs, small nuclear RNAs, and long non-coding RNAs 16. INTS11 forms a functionally essential heterodimeric interaction with Integrator subunit 9 (INTS9) through conserved C-terminal domains, which is critical for snRNA 3'-end processing 26. Additionally, INTS11 requires cytoplasmic stabilization by binding partner BRAT1 for proper nuclear function 7. Bi-allelic INTS11 variants cause severe neurodevelopmental disorder characterized by global developmental and language delays, intellectual disability, motor impairment, and progressive brain atrophy 89. Loss-of-function INTS11 mutations impair catalytic activity, causing G2/M cell cycle arrest and dysregulation of neurogenesis-related genes including CDKL5, with reduced neural progenitor cell generation and increased apoptosis 10. Drosophila studies confirm INTS11 integrity is critical for brain development 8. At the molecular level, INTS11 and CDK9 have opposing functions in maintaining promoter directionality, with INTS11 terminating antisense transcription while CDK9 protects sense transcription 11.

Sources cited
1
Additionally, INTS11 requires cytoplasmic stabilization by binding partner BRAT1 for proper nuclear function .
PMID: 39032490
2
Loss-of-function INTS11 mutations impair catalytic activity, causing G2/M cell cycle arrest and dysregulation of neurogenesis-related genes including CDKL5, with reduced neural progenitor cell generation and increased apoptosis .
PMID: 37980560
3
Bi-allelic INTS11 variants cause severe neurodevelopmental disorder characterized by global developmental and language delays, intellectual disability, motor impairment, and progressive brain atrophy , .
PMID: 37054711
4
At the molecular level, INTS11 and CDK9 have opposing functions in maintaining promoter directionality, with INTS11 terminating antisense transcription while CDK9 protects sense transcription .
PMID: 38976490
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalitiesOpen Targets
0.72Strong
ulcerative colitisOpen Targets
0.06Suggestive
infectionOpen Targets
0.06Suggestive
inflammatory bowel diseaseOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.04Suggestive
Hallux valgusOpen Targets
0.03Suggestive
ulcerative proctosigmoiditisOpen Targets
0.03Suggestive
Inguinal herniaOpen Targets
0.03Suggestive
esophageal adenocarcinomaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
osteoarthritisOpen Targets
0.02Suggestive
Neurodevelopmental disorderOpen Targets
0.02Suggestive
viral diseaseOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
gastric cancerOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
Neurodevelopmental delayOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalitiesUniProt
Pathogenic Variants6
NM_017871.6(INTS11):c.1560_1561del (p.Arg521fs)Likely pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
β˜…β˜†β˜†β˜†2024β†’ Residue 521
NM_017871.6(INTS11):c.1652_1653del (p.Val551fs)Likely pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 551
NM_017871.6(INTS11):c.1652T>A (p.Val551Glu)Likely pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
β˜†β˜†β˜†β˜†2024β†’ Residue 551
NM_017871.6(INTS11):c.1240C>T (p.His414Tyr)Pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
β˜†β˜†β˜†β˜†2023β†’ Residue 414
NM_017871.6(INTS11):c.412C>T (p.Leu138Phe)Pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
β˜†β˜†β˜†β˜†2023β†’ Residue 138
NM_017871.6(INTS11):c.50G>T (p.Arg17Leu)Pathogenic
Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
β˜†β˜†β˜†β˜†2023β†’ Residue 17
View on ClinVar β†—
Related Genes
INTS14Protein interaction100%SEM1Protein interaction100%POLR2BProtein interaction100%POLR2LProtein interaction100%POLR2KProtein interaction100%POLR2EProtein interaction100%
Tissue Expression6 tissues
Ovary
100%
Liver
56%
Lung
55%
Bone Marrow
46%
Heart
38%
Brain
22%
Gene Interaction Network
Click a node to explore
INTS11INTS14SEM1POLR2BPOLR2LPOLR2KPOLR2E
PROTEIN STRUCTURE
Preparing viewer…
PDB5V8W Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.22LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.01 [0.84–1.22]
RankingsWhere INTS11 stands among ~20K protein-coding genes
  • #6,001of 20,598
    Most Researched79
  • #3,358of 5,498
    Most Pathogenic Variants6
  • #12,879of 17,882
    Most Constrained (LOEUF)1.22
Genes detectedINTS11
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder.
PMID: 37980560
Cell Rep Β· 2023
1.00
2
INTS11-related neurodevelopmental disorder: a case report and literature review.
PMID: 39030370
J Hum Genet Β· 2024
0.90
3
Bi-allelic variants in INTS11 are associated with a complex neurological disorder.
PMID: 37054711
Am J Hum Genet Β· 2023
0.80
4
An examination of the metal ion content in the active sites of human endonucleases CPSF73 and INTS11.
PMID: 36822327
J Biol Chem Β· 2023
0.70
5
Cytoplasmic binding partners of the Integrator endonuclease INTS11 and its paralog CPSF73 are required for their nuclear function.
PMID: 39032490
Mol Cell Β· 2024
0.60