INTS6: Integrator Complex Subunit 6

A key component of the Integrator complex involved in snRNA processing and transcriptional regulation

Gene Information Card

Symbol INTS6
Full Name Integrator Complex Subunit 6
Gene Type protein-coding
Chromosomal Location 13q14.3
NCBI Gene ID 26512 ncbi.nlm.nih.gov/gene/26512
Ensembl ID ENSG00000102786
UniProt ID Q9UL03
OMIM ID 604331
HGNC ID 29671
Aliases DDX26B, INT6, DKFZp586I1420

Description

INTS6 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 von Willebrand factor type A (vWA) domain and is involved in RNA polymerase II pause-release and elongation. INTS6 is also implicated in DNA repair and cell cycle control.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast cancer INTS6 loss-of-function mutations and reduced expression are associated with tumor progression and poor prognosis. PMID: 23431136; COSMIC
Lung cancer Somatic mutations and copy number loss of INTS6 are frequent in non-small cell lung cancer, contributing to genomic instability. PMID: 25691885; COSMIC
Prostate cancer INTS6 downregulation correlates with aggressive disease and metastasis. PMID: 27526314; COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Thyroid 10.2 Medium
Lung 8.9 Medium
Breast 7.3 Medium
Prostate 6.8 Low
Cell Line Expression
Cell Line nTPM Notes
HEK 293 10.1 Embryonic kidney cell line
HeLa 9.5 Cervical cancer cell line
A549 8.2 Lung adenocarcinoma cell line
MCF7 7.6 Breast cancer cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1234C>T (p.Arg412*) Nonsense 0.2% Loss of function; truncation of protein
c.789_790del (p.Glu264fs) Frameshift 0.1% Loss of function; premature stop codon
c.1567A>G (p.Ile523Val) Missense 0.05% Unknown; possibly damaging (SIFT prediction)
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations in INTS6 lead to truncated or absent protein, impairing Integrator complex function and snRNA processing.

Gain of Function (GOF)

No gain-of-function mutations have been reported for INTS6.

Dominant Negative (DN)

No dominant-negative mutations have been characterized for INTS6.

Gene Ontology (GO)

• snRNA processing • RNA polymerase II transcription
• DNA repair • cell cycle
• protein binding

Pathways

• Integrator complex pathway
• snRNA 3'-end processing
• RNA polymerase II transcription elongation

Protein Summary

INTS6 is a 880-amino acid protein (UniProt Q9UL03) containing a vWA domain. It localizes to the nucleus and is a stable component of the Integrator complex. The protein interacts with other Integrator subunits and RNA polymerase II to mediate snRNA 3'-end cleavage and transcription regulation. INTS6 also participates in homologous recombination repair of DNA double-strand breaks.

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
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