INTS6L
Integrator Complex Subunit 6 Like
Gene Information Card
| Symbol | INTS6L |
|---|---|
| Full Name | Integrator Complex Subunit 6 Like |
| Gene Type | Protein coding |
| Chromosomal Location | Xq13.1 |
| NCBI Gene ID | 100506142 ncbi.nlm.nih.gov/gene/100506142 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | Q5VXU3 |
| OMIM ID | 300990 |
| HGNC ID | 37219 |
| Aliases | C6orf207, dJ283E3.5, INT6L |
Description
INTS6L (Integrator Complex Subunit 6 Like) is a protein-coding gene located on chromosome Xq13.1. It encodes a protein that is similar to integrator complex subunit 6 (INTS6), which is involved in the processing of small nuclear RNAs (snRNAs) and the regulation of transcription. The INTS6L protein is predicted to be part of the integrator complex, which associates with RNA polymerase II and mediates 3'-end processing of snRNAs. The gene is expressed in various tissues, with notable levels in the testis and brain. Its exact biological functions and disease associations are still under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Low |
| Lung | 4.1 | Low |
| Liver | 2.0 | Not detected |
| Heart | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.2 | Low expression |
| K562 | 3.8 | Low expression |
| HeLa | 2.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • nucleoplasm (GO:0005654) |
| • integrator complex (GO:0032039) |
Pathways
• Integrator complex pathway (Reactome: R-HSA-6807062)
Protein Summary
The INTS6L protein (UniProt Q5VXU3) is a 582-amino acid polypeptide with a molecular weight of approximately 65 kDa. It contains a conserved domain of unknown function (DUF) and is predicted to localize to the nucleus. The protein shares sequence similarity with INTS6, a core component of the integrator complex. INTS6L is thought to participate in snRNA 3'-end processing and transcriptional regulation, though its precise role in cellular physiology remains to be fully elucidated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| INTS6L Knockout HEK293 Cell Line | EDJ-KQ5562 | Human | 203522 | Details Get a Quote |
| INTS6L Knockout HCT 116 Cell Line | EDJ-KQ28830 | Human | 203522 | Details Get a Quote |
| INTS6L Knockout HeLa Cell Line | EDJ-KQ28831 | Human | 203522 | Details Get a Quote |
| INTS6L Knockout A-549 Cell Line | EDJ-KQ67525 | Human | 203522 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
