INTS14
Integrator Complex Subunit 14
Gene Information Card
| Symbol | INTS14 |
|---|---|
| Full Name | Integrator Complex Subunit 14 |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q14 |
| NCBI Gene ID | 100287896 ncbi.nlm.nih.gov/gene/100287896 |
| Ensembl ID | ENSG00000204149 |
| UniProt ID | Q96N58 |
| OMIM ID | 617849 |
| HGNC ID | 26056 |
| Aliases | C15orf44, INT14 |
Description
INTS14 encodes a subunit of the Integrator complex, which is involved in the processing of small nuclear RNAs (snRNAs) and the regulation of RNA polymerase II transcription. The Integrator complex is essential for snRNA 3'-end processing and plays a role in transcriptional pause release.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder | Disruption of Integrator complex function may impair snRNA processing and neuronal gene expression | PMID: 31474318 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Brain | 5.1 | Low |
| Lung | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 6.5 | RNA-seq data |
| K562 | 4.2 | RNA-seq data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Likely benign |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function variants in INTS14 are rare and may contribute to neurodevelopmental phenotypes.
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 processing | • RNA polymerase II transcription |
| • Integrator complex |
Pathways
• snRNA 3'-end processing
• RNA polymerase II transcription regulation
Protein Summary
INTS14 is a 789-amino acid protein that localizes to the nucleus and is a component of the Integrator complex. It interacts with other Integrator subunits to facilitate snRNA cleavage and transcription regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INTS14 Knockout HEK293 Cell Line | EDJ-KQ9716 | Human | 81556 | Details Get a Quote |
| INTS14 Knockout A-549 Cell Line | EDJ-KQ36519 | Human | 81556 | Details Get a Quote |
| INTS14 Knockout HCT 116 Cell Line | EDJ-KQ36520 | Human | 81556 | Details Get a Quote |
| INTS14 Knockout HeLa Cell Line | EDJ-KQ36521 | Human | 81556 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
