INTS12: Integrator Complex Subunit 12
A core component of the Integrator complex involved in snRNA 3'-end processing and transcriptional regulation
Gene Information Card
| Symbol | INTS12 |
|---|---|
| Full Name | Integrator Complex Subunit 12 |
| Gene Type | Protein-coding |
| Chromosomal Location | 4q24 |
| NCBI Gene ID | 57117 ncbi.nlm.nih.gov/gene/57117 |
| Ensembl ID | ENSG00000138685 |
| UniProt ID | Q96CB8 |
| OMIM ID | 611355 |
| HGNC ID | 23687 |
| Aliases | INT12, PHF22, SBBI22 |
Description
INTS12 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 PHD finger domain and interacts with other Integrator subunits to mediate RNA polymerase II termination.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | INTS12 mutations may disrupt snRNA processing and gene expression, contributing to oncogenesis | COSMIC database reports somatic mutations in various cancers |
| Neurodevelopmental disorders | Potential role due to Integrator complex function in neuronal gene regulation | Inferred from Integrator complex subunit mutations in related genes (OMIM) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Thyroid | 9.8 | Medium |
| Adrenal gland | 8.5 | Medium |
| Lung | 7.2 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.5 | Embryonic kidney cells |
| HeLa | 9.2 | Cervical cancer cells |
| K562 | 8.0 | Leukemia cells |
| HepG2 | 7.5 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.1% | Unknown functional effect; reported in COSMIC |
| c.200_201del (p.Glu67fs) | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely cause loss of Integrator complex function
Gain of Function (GOF)
No evidence for gain-of-function mutations
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • snRNA processing | • RNA polymerase II transcription termination |
| • PHD finger domain binding | • nucleus |
| • Integrator complex |
Pathways
• Integrator complex pathway
• snRNA 3'-end processing
Protein Summary
INTS12 is a 462-amino acid protein containing a PHD-type zinc finger domain. It localizes to the nucleus and is a stable component of the Integrator complex, which associates with RNA polymerase II to mediate snRNA 3'-end cleavage and transcription termination. The protein is ubiquitously expressed with highest levels in testis and thyroid.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INTS12 Knockout HEK293 Cell Line | EDJ-KQ13849 | Human | 57117 | Details Get a Quote |
| INTS12 Knockout HCT 116 Cell Line | EDJ-KQ43690 | Human | 57117 | Details Get a Quote |
| INTS12 Knockout HeLa Cell Line | EDJ-KQ43691 | Human | 57117 | Details Get a Quote |
| INTS12 Knockout A-549 Cell Line | EDJ-KQ65313 | Human | 57117 | Details Get a Quote |
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