INTS6: Integrator Complex Subunit 6
A key component of the Integrator complex involved in snRNA processing and transcriptional regulation
Gene Information Card
| Symbol | INTS6 |
|---|---|
| Full Name | Integrator Complex Subunit 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 13q14.3 |
| NCBI Gene ID | 26512 ncbi.nlm.nih.gov/gene/26512 |
| Ensembl ID | ENSG00000102786 |
| UniProt ID | Q9UL03 |
| OMIM ID | 604331 |
| HGNC ID | 29671 |
| Aliases | DDX26B, INT6, DKFZp586I1420 |
Description
INTS6 encodes a subunit of the Integrator complex, which is required for the 3'-end processing of small nuclear RNAs (snRNAs) and plays a role in transcriptional regulation of protein-coding genes. The protein contains a von Willebrand factor type A (vWA) domain and is involved in RNA polymerase II pause-release and elongation. INTS6 is also implicated in DNA repair and cell cycle control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | INTS6 loss-of-function mutations and reduced expression are associated with tumor progression and poor prognosis. | PMID: 23431136; COSMIC |
| Lung cancer | Somatic mutations and copy number loss of INTS6 are frequent in non-small cell lung cancer, contributing to genomic instability. | PMID: 25691885; COSMIC |
| Prostate cancer | INTS6 downregulation correlates with aggressive disease and metastasis. | PMID: 27526314; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Thyroid | 10.2 | Medium |
| Lung | 8.9 | Medium |
| Breast | 7.3 | Medium |
| Prostate | 6.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cell line |
| HeLa | 9.5 | Cervical cancer cell line |
| A549 | 8.2 | Lung adenocarcinoma cell line |
| MCF7 | 7.6 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | 0.2% | Loss of function; truncation of protein |
| c.789_790del (p.Glu264fs) | Frameshift | 0.1% | Loss of function; premature stop codon |
| c.1567A>G (p.Ile523Val) | Missense | 0.05% | Unknown; possibly damaging (SIFT prediction) |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in INTS6 lead to truncated or absent protein, impairing Integrator complex function and snRNA processing.
Gain of Function (GOF)
No gain-of-function mutations have been reported for INTS6.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for INTS6.
View complete mutation data:
Gene Ontology (GO)
| • snRNA processing | • RNA polymerase II transcription |
| • DNA repair | • cell cycle |
| • protein binding |
Pathways
• Integrator complex pathway
• snRNA 3'-end processing
• RNA polymerase II transcription elongation
Protein Summary
INTS6 is a 880-amino acid protein (UniProt Q9UL03) containing a vWA domain. It localizes to the nucleus and is a stable component of the Integrator complex. The protein interacts with other Integrator subunits and RNA polymerase II to mediate snRNA 3'-end cleavage and transcription regulation. INTS6 also participates in homologous recombination repair of DNA double-strand breaks.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INTS6L Knockout HEK293 Cell Line | EDJ-KQ5562 | Human | 203522 | Details Get a Quote |
| INTS6L Knockout HCT 116 Cell Line | EDJ-KQ28830 | Human | 203522 | Details Get a Quote |
| INTS6L Knockout HeLa Cell Line | EDJ-KQ28831 | Human | 203522 | Details Get a Quote |
| INTS6L Knockout A-549 Cell Line | EDJ-KQ67525 | Human | 203522 | Details Get a Quote |