INTS15: Integrator Complex Subunit 15

A component of the Integrator complex involved in snRNA 3'-end processing and transcriptional regulation.

Gene Information Card

Symbol INTS15
Full Name Integrator Complex Subunit 15
Gene Type Protein coding
Chromosomal Location 7q22.1
NCBI Gene ID 100129924 ncbi.nlm.nih.gov/gene/100129924
Ensembl ID ENSG00000185862
UniProt ID Q96N58
OMIM ID 615526
HGNC ID 25242
Aliases C7orf26, INT15, FLJ32642

Description

INTS15 encodes a subunit of the Integrator complex, which is essential for the 3'-end processing of small nuclear RNAs (snRNAs) and modulates RNA polymerase II transcription. The protein localizes to the nucleus and interacts with other Integrator subunits to facilitate cleavage and termination of snRNA transcripts. INTS15 is also implicated in DNA repair and cell cycle regulation.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Neurodevelopmental disorder with hypotonia and brain abnormalities Loss-of-function mutations in INTS15 disrupt Integrator complex assembly, impairing snRNA processing and neuronal gene expression. ClinVar, OMIM
Breast cancer Somatic mutations and copy number alterations in INTS15 may affect transcriptional regulation of oncogenes and tumor suppressors. COSMIC, NCBI
Lung adenocarcinoma Recurrent missense mutations in INTS15 are associated with altered splicing and proliferation. COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 12.5 Medium
Brain 8.3 Low
Lung 6.1 Low
Breast 5.4 Low
Liver 4.2 Not detected
Cell Line Expression
Cell Line nTPM Notes
HEK293 9.8 Embryonic kidney cells; moderate expression
HeLa 7.2 Cervical carcinoma; low expression
A549 6.5 Lung carcinoma; low expression
MCF7 5.1 Breast cancer; low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1042C>T (p.Arg348*) Nonsense Rare Loss of function; truncation of protein
c.157G>A (p.Gly53Arg) Missense 0.01% Unknown; possibly damaging
c.2035_2036insA (p.Leu679fs) Frameshift Rare Loss of function; premature stop
Mutation functional classification

Loss of Function (LOF)

Nonsense and frameshift mutations in INTS15 lead to truncated or absent protein, impairing Integrator complex function and snRNA processing.

Gain of Function (GOF)

No gain-of-function mutations reported for INTS15.

Dominant Negative (DN)

No dominant-negative mutations reported for INTS15.

Pathways

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

Protein Summary

INTS15 is a 748-amino acid nuclear protein that forms part of the Integrator complex. It contains no known enzymatic domains but is essential for complex stability and recruitment to snRNA genes. The protein interacts with INTS1 and INTS4 to mediate cleavage of nascent snRNA transcripts. INTS15 also participates in DNA damage response by facilitating transcription-coupled repair.

Related Products

Product name Cat.No. Species Gene ID
INTS15 Knockout HEK293 Cell Line EDJ-KQ13850 Human 79034 Details Get a Quote
INTS15 Knockout A-549 Cell Line EDJ-KQ43692 Human 79034 Details Get a Quote
INTS15 Knockout HCT 116 Cell Line EDJ-KQ43693 Human 79034 Details Get a Quote
INTS15 Knockout HeLa Cell Line EDJ-KQ43694 Human 79034 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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