PIAS3

protein inhibitor of activated STAT 3, the group of Zinc fingers MIZ-type|MicroRNA protein coding host genes

Basic information

Region (hg38): 1:145848522-145859836

Links

ENSG00000131788NCBI:10401OMIM:605987HGNC:16861Uniprot:Q9Y6X2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PIAS3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PIAS3 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
3
clinvar
1
clinvar
4
missense
41
clinvar
1
clinvar
42
nonsense
1
clinvar
1
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
1
1
non coding
0
Total 0 0 42 3 2

Variants in PIAS3

This is a list of pathogenic ClinVar variants found in the PIAS3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
1-145849463-T-C not specified Uncertain significance (Jan 17, 2023)2462756
1-145849471-C-T not specified Uncertain significance (Sep 26, 2022)2313371
1-145849534-C-G not specified Uncertain significance (Jan 04, 2024)3212569
1-145849537-G-C not specified Uncertain significance (Jun 24, 2022)2399437
1-145849546-A-G not specified Uncertain significance (Sep 26, 2024)3418120
1-145849550-T-G Benign (Jun 06, 2017)773151
1-145849559-G-A not specified Uncertain significance (Dec 08, 2023)3212568
1-145849576-G-A not specified Uncertain significance (Aug 16, 2021)2400111
1-145849606-G-A not specified Uncertain significance (Apr 08, 2022)2282418
1-145849606-G-T not specified Uncertain significance (Feb 21, 2024)3212567
1-145849615-A-G not specified Uncertain significance (Nov 04, 2023)3212566
1-145849667-G-C not specified Uncertain significance (Oct 18, 2021)2380928
1-145849708-T-C not specified Uncertain significance (Aug 10, 2023)2617701
1-145850277-G-A Likely benign (Jul 27, 2018)756016
1-145850570-G-A not specified Uncertain significance (Nov 13, 2023)3212565
1-145850777-C-T not specified Uncertain significance (Mar 21, 2024)3306381
1-145850864-A-G not specified Uncertain significance (Nov 13, 2023)3212564
1-145850883-C-T not specified Uncertain significance (Sep 27, 2024)3418119
1-145850884-G-C Likely benign (Jan 22, 2018)726837
1-145850886-C-T not specified Uncertain significance (Oct 06, 2023)3212563
1-145850887-C-A not specified Uncertain significance (Jan 03, 2025)3888619
1-145850900-T-A not specified Uncertain significance (Oct 25, 2022)2318853
1-145851040-G-A not specified Uncertain significance (Apr 23, 2024)3306377
1-145851056-A-G not specified Uncertain significance (Jun 16, 2023)2600361
1-145851077-T-C not specified Uncertain significance (Feb 28, 2024)3212562

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
PIAS3protein_codingprotein_codingENST00000393045 1411314
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9850.01501257360121257480.0000477
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.002983510.8490.00002044017
Missense in Polyphen103137.480.749191593
Synonymous-1.011561411.110.000007681339
Loss of Function4.43430.40.1320.00000165353

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005810.0000581
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.00004620.0000462
European (Non-Finnish)0.00007120.0000703
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway and the steroid hormone signaling pathway. Involved in regulating STAT3 signaling via inhibiting STAT3 DNA-binding and suppressing cell growth. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation (PubMed:21965678, PubMed:9388184). Sumoylates CCAR2 which promotes its interaction with SIRT1 (PubMed:25406032). Diminishes the sumoylation of ZFHX3 by preventing the colocalization of ZFHX3 with SUMO1 in the nucleus (PubMed:24651376). {ECO:0000269|PubMed:21965678, ECO:0000269|PubMed:24651376, ECO:0000269|PubMed:25406032, ECO:0000269|PubMed:9388184}.;
Pathway
Jak-STAT signaling pathway - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);TGF-Ncore;JAK-STAT-Ncore;Androgen receptor signaling pathway;Prolactin Signaling Pathway;Interleukin-11 Signaling Pathway;Oncostatin M Signaling Pathway;JAK-STAT;EGF-EGFR Signaling Pathway;Interferon type I signaling pathways;DNA Repair;SUMOylation of transcription factors;Post-translational protein modification;SUMO E3 ligases SUMOylate target proteins;Metabolism of proteins;Oncostatin_M;AndrogenReceptor;SUMOylation;EGFR1;Coregulation of Androgen receptor activity;IL11;C-MYB transcription factor network;IL6;Formation of Incision Complex in GG-NER;Global Genome Nucleotide Excision Repair (GG-NER);Regulation of nuclear SMAD2/3 signaling;IL6-mediated signaling events;Nucleotide Excision Repair (Consensus)

Recessive Scores

pRec
0.225

Intolerance Scores

loftool
0.259
rvis_EVS
-0.66
rvis_percentile_EVS
15.91

Haploinsufficiency Scores

pHI
0.748
hipred
Y
hipred_score
0.840
ghis
0.542

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.998

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Pias3
Phenotype
vision/eye phenotype;

Gene ontology

Biological process
negative regulation of transcription by RNA polymerase II;response to hormone;positive regulation of gene expression;protein sumoylation;negative regulation of protein sumoylation;positive regulation of protein sumoylation;negative regulation of osteoclast differentiation;positive regulation of membrane potential;TNFSF11-mediated signaling pathway
Cellular component
nucleoplasm;cytoplasm;nuclear speck;dendrite;synapse
Molecular function
protein binding;protein C-terminus binding;zinc ion binding;potassium channel regulator activity;SUMO transferase activity;enzyme binding;protein N-terminus binding