INTS2: Integrator Complex Subunit 2
A key component of the Integrator complex involved in snRNA 3'-end processing and transcriptional regulation
Gene Information Card
| Symbol | INTS2 |
|---|---|
| Full Name | Integrator Complex Subunit 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q23.2 |
| NCBI Gene ID | 57508 ncbi.nlm.nih.gov/gene/57508 |
| Ensembl ID | ENSG00000108557 |
| UniProt ID | Q9H0H0 |
| OMIM ID | 611354 |
| HGNC ID | 29241 |
| Aliases | INT2, DKFZp686D10100 |
Description
INTS2 encodes integrator complex subunit 2, a component of the Integrator complex that associates with RNA polymerase II and mediates 3'-end processing of small nuclear RNAs (snRNAs). The complex also plays roles in transcriptional pause release and DNA repair. INTS2 is essential for proper snRNA maturation and gene expression regulation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain anomalies | Loss-of-function mutations in INTS2 disrupt snRNA processing, leading to impaired neuronal gene expression | ClinVar; PMID: 31585110 |
| Colorectal cancer | INTS2 overexpression may promote tumorigenesis via altered transcriptional regulation | COSMIC; PMID: 25344691 |
| Breast cancer | Somatic mutations and copy number alterations in INTS2 observed in breast tumors | COSMIC; PMID: 29056340 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cells |
| HeLa | 9.5 | Cervical carcinoma cells |
| K562 | 7.8 | Leukemia cells |
| HepG2 | 5.6 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1282C>T (p.Arg428*) | Nonsense | Rare | Loss of function; associated with neurodevelopmental disorder |
| c.1670A>G (p.Tyr557Cys) | Missense | Rare | Unknown significance; reported in ClinVar |
| c.2146_2147del (p.Glu716fs) | Frameshift | Rare | Loss of function; reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in INTS2 lead to truncated or absent protein, impairing Integrator complex assembly and snRNA processing.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported for INTS2.
Dominant Negative (DN)
Not established; INTS2 mutations are typically recessive or somatic.
View complete mutation data：
Gene Ontology (GO)
| • snRNA processing | • RNA polymerase II transcription |
| • DNA repair | • Integrator complex |
| • nucleus |
Pathways
• Integrator complex pathway
• snRNA 3'-end processing
• RNA polymerase II transcription
Protein Summary
INTS2 is a 1,024-amino-acid protein that forms part of the Integrator complex. It contains a helical domain and interacts with other subunits to facilitate snRNA cleavage. The protein localizes to the nucleus and is ubiquitously expressed, with highest levels in testis and brain.
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