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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PABIR3
PABIR family member 3
Chromosome X Β· Xq26.3
NCBI Gene: 159091Ensembl: ENSG00000156500.16HGNC: HGNC:25202UniProt: A0A087WU98
11PubMed Papers
14Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein serine/threonine phosphatase inhibitor activitypositive regulation of proteasomal ubiquitin-dependent protein catabolic processnucleuscytoplasmgoutdepressive disordermood disorderSepsis
✦AI Summary

Based on limited published evidence, PABIR3 is an X-linked protein with predicted roles in cellular regulation. GO annotations indicate localization to the cytoplasm and nucleus, with functional involvement in positive regulation of proteasomal ubiquitin-dependent protein catabolic processes and protein serine/threonine phosphatase inhibitor activity. PABIR3 was identified as a novel gene harboring somatic variants in saccular cerebral aneurysm tissue 1, suggesting potential involvement in aneurysm pathogenesis, though the specific molecular mechanisms remain unexplored.

Sources cited
1
PABIR3 identified as a novel gene with somatic variants in saccular intracranial aneurysm tissue, suggesting involvement in aneurysm formation
PMID: 40932096
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜14
goutOpen Targets
0.18Weak
depressive disorderOpen Targets
0.03Suggestive
mood disorderOpen Targets
0.02Suggestive
SepsisOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
oral squamous cell carcinomaOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
clear cell renal carcinomaOpen Targets
0.00Suggestive
glioma susceptibility 1Open Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PABIR2Shared pathway100%SUMO2Shared pathway50%DET1Shared pathway50%PABIR1Shared pathway33%ZYG11BShared pathway33%HSPBP1Shared pathway33%
Tissue Expression6 tissues
Ovary
100%
Bone Marrow
77%
Liver
35%
Lung
26%
Brain
23%
Heart
22%
Gene Interaction Network
Click a node to explore
PABIR3PABIR2SUMO2DET1PABIR1ZYG11BHSPBP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6P187
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.26LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.86 [0.61–1.26]
RankingsWhere PABIR3 stands among ~20K protein-coding genes
  • #16,850of 20,598
    Most Researched11
  • #13,246of 17,882
    Most Constrained (LOEUF)1.26
Genes detectedPABIR3
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Low-Allele-Frequency Somatic Variants in a Cohort of Sporadic Saccular "Berry" Cerebral Aneurysms.
PMID: 40932096
J Am Heart Assoc Β· 2025
1.00