PIAS2

Chr 18

protein inhibitor of activated STAT 2

Also known as: ARIP3, DIP, MIZ1, PIASX, SIZ2, ZMIZ4

NCBI Gene: 9063 ENSG00000078043 UniProt: O75928

The protein functions as a SUMO E3 ligase that regulates gene expression by promoting sumoylation of target proteins including p53, c-Jun, and steroid hormone receptors. Mutations cause neurodevelopmental disorders with intellectual disability and developmental delay, following an autosomal dominant inheritance pattern. This gene is highly constrained against loss-of-function variants, indicating that even single functional copies are critical for normal development.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the protein inhibitor of activated STAT family, which function as SUMO E3 ligases and play important roles in many cellular processes by mediating the sumoylation of target proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Isoforms of the encoded protein enhance the sumoylation of specific target proteins including the p53 tumor suppressor protein, c-Jun, and the androgen receptor. A pseudogene of this gene is located on the short arm of chromosome 4. The symbol MIZ1 has also been associated with ZBTB17 which is a different gene located on chromosome 1. [provided by RefSeq, Aug 2017]

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)

—

P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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