INTS9 Gene - Integrator Complex Subunit 9
A key component of the Integrator complex involved in snRNA 3'-end processing and transcriptional regulation.
Gene Information Card
| Symbol | INTS9 |
|---|---|
| Full Name | Integrator Complex Subunit 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.11 |
| NCBI Gene ID | 55756 ncbi.nlm.nih.gov/gene/55756 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9NV88 |
| OMIM ID | 611352 |
| HGNC ID | 26092 |
| Aliases | C8orf55, INT9, RC-68, DKFZp686A01240 |
Description
INTS9 encodes a subunit of the Integrator complex, which is essential for the 3'-end processing of small nuclear RNAs (snRNAs) and modulates RNA polymerase II transcription. The protein interacts with other Integrator subunits and is involved in cellular signaling and development. Mutations and dysregulation of INTS9 have been implicated in neurodevelopmental disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Loss-of-function mutations in INTS9 disrupt Integrator complex function, impairing snRNA processing and gene expression regulation. | ClinVar, OMIM |
| Colorectal cancer | Altered expression of INTS9 may contribute to tumorigenesis through dysregulation of transcriptional programs. | COSMIC, NCBI Gene |
| Breast cancer | Somatic mutations and copy number alterations in INTS9 observed in tumor samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 10.8 | Medium |
| Lung | 8.5 | Low |
| Liver | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.4 | Embryonic kidney cells |
| HeLa | 9.7 | Cervical cancer cells |
| K562 | 7.8 | Leukemia cells |
| HepG2 | 6.5 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1042C>T (p.Arg348*) | Nonsense | Rare | Loss of function; truncation of protein |
| c.1573G>A (p.Gly525Arg) | Missense | Rare | Unknown; likely damaging |
| c.1885_1886del (p.Leu629fs) | Frameshift | Rare | Loss of function; premature termination |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in INTS9 lead to truncated or absent protein, impairing Integrator complex assembly and snRNA processing.
Gain of Function (GOF)
No gain-of-function mutations reported for INTS9.
Dominant Negative (DN)
No dominant-negative mutations reported for INTS9.
View complete mutation data：
Gene Ontology (GO)
| • snRNA 3'-end processing | • RNA polymerase II transcription |
| • Integrator complex | • nucleus |
| • protein binding |
Pathways
• Integrator complex pathway
• snRNA processing
Protein Summary
INTS9 is a 634-amino acid protein that forms part of the Integrator complex. It contains a DUF2029 domain and is involved in the cleavage and polyadenylation of snRNA precursors. The protein localizes to the nucleus and interacts with other Integrator subunits to regulate transcription.
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