INTS13: Integrator Complex Subunit 13
A key component of the Integrator complex involved in snRNA 3'-end processing and transcriptional regulation
Gene Information Card
| Symbol | INTS13 |
|---|---|
| Full Name | Integrator Complex Subunit 13 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12p11.23 |
| NCBI Gene ID | 55726 ncbi.nlm.nih.gov/gene/55726 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | Q9NVM9 |
| OMIM ID | 615079 |
| HGNC ID | 25997 |
| Aliases | C12orf11, INT13, ASUN |
Description
INTS13 (Integrator Complex Subunit 13) encodes a protein component of the Integrator complex, which is essential for the 3'-end processing of small nuclear RNAs (snRNAs) and the regulation of RNA polymerase II transcription. The protein localizes to the nucleus and is involved in developmental processes, including ciliogenesis and cell cycle progression. Mutations in INTS13 have been associated with neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies | Loss-of-function mutations in INTS13 disrupt Integrator complex function, impairing snRNA processing and transcriptional regulation during brain development. | ClinVar, OMIM |
| Primary microcephaly | Biallelic missense and truncating variants in INTS13 lead to reduced protein stability and impaired ciliogenesis, resulting in reduced brain size. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain (cerebellum) | 8.2 | Medium |
| Brain (cortex) | 7.1 | Medium |
| Heart | 6.8 | Medium |
| Liver | 4.3 | Low |
| Lung | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cells; high expression |
| K562 | 8.5 | Leukemia cell line; moderate expression |
| HeLa | 7.9 | Cervical carcinoma; moderate expression |
| HepG2 | 6.1 | Hepatocellular carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.154C>T (p.Arg52Ter) | Nonsense | Rare | Loss of function; truncation |
| c.625G>A (p.Gly209Arg) | Missense | Rare | Impaired protein stability |
| c.1012C>T (p.Arg338Trp) | Missense | Rare | Reduced Integrator complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to premature termination codons and nonsense-mediated decay, resulting in haploinsufficiency or complete loss of INTS13 function.
Gain of Function (GOF)
No gain-of-function mutations reported for INTS13.
Dominant Negative (DN)
Missense variants (e.g., p.Gly209Arg, p.Arg338Trp) may exert dominant-negative effects by disrupting Integrator complex assembly and function.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Integrator complex pathway (Reactome: R-HSA-6807062)
• snRNA processing (Reactome: R-HSA-6807065)
• RNA polymerase II transcription (Reactome: R-HSA-73857)
Protein Summary
INTS13 is a 731-amino-acid protein (UniProt Q9NVM9) with a molecular mass of approximately 83 kDa. It contains a conserved domain of unknown function (DUF) and is a stable component of the Integrator complex. The protein interacts with other Integrator subunits (e.g., INTS1, INTS2) and is required for the cleavage of snRNA precursors. INTS13 also plays a role in cilia formation and cell cycle regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INTS13 Knockout HEK293 Cell Line | EDJ-KQ12105 | Human | 55726 | Details Get a Quote |
| INTS13 Knockout HCT 116 Cell Line | EDJ-KQ39527 | Human | 55726 | Details Get a Quote |
| INTS13 Knockout A-549 Cell Line | EDJ-KQ40780 | Human | 55726 | Details Get a Quote |
| INTS13 Knockout HeLa Cell Line | EDJ-KQ40782 | Human | 55726 | Details Get a Quote |
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