INTS10 Gene - Integrator Complex Subunit 10
A key component of the Integrator complex involved in snRNA 3'-end processing and transcriptional regulation
Gene Information Card
| Symbol | INTS10 |
|---|---|
| Full Name | Integrator Complex Subunit 10 |
| Gene Type | Protein-coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 283554 ncbi.nlm.nih.gov/gene/283554 |
| Ensembl ID | ENSG00000168066 |
| UniProt ID | Q9NVR2 |
| OMIM ID | 617497 |
| HGNC ID | 26024 |
| Aliases | C8orf35, FLJ10769, INT10 |
Description
INTS10 encodes integrator complex subunit 10, a component of the Integrator complex that associates with RNA polymerase II and is essential for the 3'-end processing of small nuclear RNAs (snRNAs). The complex also participates in transcriptional pause release and gene regulation. INTS10 is localized to the nucleus and is ubiquitously expressed.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain anomalies | Loss-of-function mutations in INTS10 disrupt Integrator complex assembly, impairing snRNA processing and neuronal gene expression | ClinVar, OMIM |
| Cancers (pan-cancer) | Somatic mutations and copy-number alterations in INTS10 may affect transcriptional regulation of oncogenes and tumor suppressors | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Brain (cortex) | 8.9 | Medium |
| Lung | 7.4 | Low |
| Liver | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Embryonic kidney cell line |
| HeLa | 8.3 | Cervical cancer cell line |
| K562 | 6.7 | Leukemia cell line |
| HepG2 | 5.4 | Hepatocellular carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1012C>T (p.Arg338*) | Nonsense | Rare | Loss of function; truncates protein |
| c.1543G>A (p.Gly515Arg) | Missense | Rare | Unknown; predicted damaging |
| c.2077_2078insA (p.Thr693Asnfs*2) | Frameshift | Rare | Loss of function; premature stop |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in INTS10 lead to truncated or absent protein, impairing Integrator complex assembly and snRNA processing.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • snRNA 3'-end processing (GO:0034477) | • RNA polymerase II transcription (GO:0006366) |
| • Integrator complex (GO:0032039) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) |
Pathways
• Integrator complex pathway (Reactome: R-HSA-6807505)
• snRNA processing (Reactome: R-HSA-6807505)
Protein Summary
INTS10 is a 789-amino-acid protein (UniProt Q9NVR2) with a molecular weight of ~89 kDa. It contains a C-terminal domain that mediates interaction with other Integrator subunits. The protein is essential for the cleavage and polyadenylation of snRNA precursors. INTS10 is widely expressed, with highest levels in testis and brain.
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