INTS8: Integrator Complex Subunit 8
A key component of the Integrator complex involved in snRNA 3'-end processing and transcriptional regulation
Gene Information Card
| Symbol | INTS8 |
|---|---|
| Full Name | Integrator Complex Subunit 8 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8q22.1 |
| NCBI Gene ID | 55656 ncbi.nlm.nih.gov/gene/55656 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q75QN2 |
| OMIM ID | 611351 |
| HGNC ID | 26048 |
| Aliases | INT8, C8orf52, DKFZp686D10106 |
Description
INTS8 encodes integrator complex subunit 8, a component of the Integrator complex that associates with RNA polymerase II large subunit. The complex mediates 3'-end processing of small nuclear RNAs (snRNAs) and is involved in transcriptional regulation of protein-coding genes. INTS8 is essential for proper snRNA maturation and may play roles in development and cellular differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in INTS8 disrupt Integrator complex function, impairing snRNA processing and gene expression regulation | ClinVar: pathogenic variants reported in patients with developmental delay, hypotonia, and structural brain anomalies |
| Colorectal cancer | Somatic mutations and copy number alterations in INTS8 may contribute to tumorigenesis through dysregulated transcription | COSMIC: mutations found in colorectal adenocarcinoma samples |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain (cerebellum) | 12.8 | Medium |
| Thyroid | 11.5 | Medium |
| Lung | 9.3 | Low |
| Liver | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.5 | Embryonic kidney cells; moderate expression |
| K562 | 10.2 | Leukemia cell line; low expression |
| HeLa | 8.7 | Cervical carcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349*) | Nonsense | Rare | Loss of function; truncation of INTS8 protein |
| c.1573G>A (p.Gly525Arg) | Missense | Rare | Unknown; predicted damaging by in silico tools |
| c.1862_1863del (p.Glu621Glyfs*12) | Frameshift | Rare | Loss of function; premature stop codon |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg349*, p.Glu621Glyfs*12) lead to truncated or absent INTS8 protein, impairing Integrator complex assembly and snRNA processing.
Gain of Function (GOF)
No gain-of-function mutations reported for INTS8.
Dominant Negative (DN)
No dominant-negative mutations reported for INTS8.
View complete mutation data：
Gene Ontology (GO)
| • snRNA processing | • RNA polymerase II transcription |
| • Integrator complex | • nucleus |
| • protein binding |
Pathways
• Integrator complex-mediated snRNA 3'-end processing
• RNA polymerase II transcription
Protein Summary
INTS8 is a 789-amino-acid protein (UniProt Q75QN2) that localizes to the nucleus and is a core subunit of the Integrator complex. It contains no known enzymatic domains but is required for complex stability and interaction with RNA polymerase II. The protein is conserved in metazoans and is essential for snRNA maturation and transcriptional regulation.
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