PIAS3

Chr 1

protein inhibitor of activated STAT 3

Also known as: ZMIZ5

This gene encodes a member of the PIAS [protein inhibitor of activated STAT (signal transducer and activator of transcription)] family of transcriptional modulators. The protein functions as a SUMO (small ubiquitin-like modifier)-E3 ligase which catalyzes the covalent attachment of a SUMO protein to specific target substrates. It directly binds to several transcription factors and either blocks or enhances their activity. Alternatively spliced transcript variants of this gene have been identified, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]

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.
0
Active trials
17
Pubs (1 yr)
P/LP submissions
P/LP missense
0.30
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.30LOEUF
pLI 0.985
Z-score 4.43
OE 0.13 (0.060.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.00Z-score
OE missense 0.85 (0.770.94)
298 obs / 350.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.13 (0.060.30)
00.351.4
Missense OE?0.85 (0.770.94)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 4 / 30.4Missense obs/exp: 298 / 350.9Syn Z: -1.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PIAS3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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