INTS13

Chr 12

integrator complex subunit 13

Also known as: ASUN, C12orf11, GCT1, Mat89Bb, NET48, SPATA30

NCBI Gene: 55726 ENSG00000064102 UniProt: Q9NVM9

The INTS13 protein is a component of the integrator complex that terminates RNA polymerase II transcription and regulates mitotic processes including centrosome positioning and spindle formation. Mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and variable features including seizures and brain malformations, following an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function variants (pLI = 0.86, LOEUF = 0.35), indicating that haploinsufficiency is likely not tolerated in the general population.

ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription factor binding activity. Involved in RNA metabolic process; regulation of mitotic cell cycle; and regulation of transcription elongation by RNA polymerase II. Acts upstream of or within centrosome localization; mitotic spindle organization; and protein localization to nuclear envelope. Located in cytoplasm and nuclear body. Part of INTAC complex and integrator complex. Is active in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.35

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

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