INTS4 Gene - Integrator Complex Subunit 4
A key component of the Integrator complex involved in snRNA 3'-end processing and transcriptional regulation.
Gene Information Card
| Symbol | INTS4 |
|---|---|
| Full Name | Integrator Complex Subunit 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q14.1 |
| NCBI Gene ID | 92105 ncbi.nlm.nih.gov/gene/92105 |
| Ensembl ID | ENSG00000149294 |
| UniProt ID | Q96HW7 |
| OMIM ID | 611351 |
| HGNC ID | 26048 |
| Aliases | INT4, C11orf8, DKFZp434B0611 |
Description
INTS4 encodes integrator complex subunit 4, a component of the Integrator complex that associates with RNA polymerase II large subunit. The complex is involved in the 3'-end processing of small nuclear RNAs (snRNAs) and in transcriptional regulation of protein-coding genes. INTS4 is essential for proper snRNA maturation and may play a role in cell cycle control and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia, seizures, and absent language (NEDHSAL) | Biallelic loss-of-function mutations in INTS4 disrupt Integrator complex function, impairing snRNA processing and gene expression in neural tissues. | ClinVar, OMIM |
| Colorectal cancer | INTS4 overexpression or amplification may contribute to tumorigenesis by altering transcriptional programs. | COSMIC, NCBI |
| Breast cancer | Somatic mutations and copy number alterations in INTS4 have been reported in breast cancer samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 16.8 | Medium |
| Thyroid | 12.3 | Medium |
| Brain - cortex | 9.5 | Low |
| Liver | 8.1 | Low |
| Heart | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.2 | Embryonic kidney cells |
| HeLa | 11.5 | Cervical cancer cells |
| K562 | 9.8 | Leukemia cells |
| HepG2 | 8.3 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1132C>T (p.Arg378Ter) | Nonsense | Rare | Loss of function; associated with NEDHSAL |
| c.1675G>A (p.Gly559Arg) | Missense | Rare | Likely damaging; reported in neurodevelopmental disorder |
| c.202_203del (p.Glu68fs) | Frameshift | Rare | Loss of function; reported in NEDHSAL |
Mutation functional classification
Loss of Function (LOF)
Biallelic loss-of-function mutations (nonsense, frameshift) cause neurodevelopmental disorder NEDHSAL by impairing Integrator complex activity.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may suggest oncogenic potential but no confirmed gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects in INTS4.
View complete mutation data：
Gene Ontology (GO)
| • snRNA 3'-end processing (GO:0034477) | • Integrator complex (GO:0032039) |
| • RNA binding (GO:0003723) | • Nucleus (GO:0005634) |
| • Regulation of transcription by RNA polymerase II (GO:0006357) |
Pathways
• Integrator complex pathway
• snRNA processing
• RNA polymerase II transcription
Protein Summary
INTS4 is a 963-amino-acid protein (UniProt Q96HW7) that localizes to the nucleus and is a stable component of the Integrator complex. It contains no known enzymatic domains but is required for complex assembly and snRNA 3'-end cleavage. The protein interacts with other Integrator subunits and RNA polymerase II.
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