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GeneE
0 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.
PABIR2
PABIR family member 2
Chromosome X Β· Xq26.3
NCBI Gene: 159090Ensembl: ENSG00000156504.17HGNC: HGNC:30490UniProt: B4DN12
32PubMed Papers
20Diseases
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 processnucleuscytoplasmdepressive disordermood disordergoutamelogenesis imperfecta
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

PABIR family member 2

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
depressive disorderOpen Targets
0.32Weak
mood disorderOpen Targets
0.32Weak
goutOpen Targets
0.20Weak
amelogenesis imperfectaOpen Targets
0.05Suggestive
OligodontiaOpen Targets
0.04Suggestive
tooth agenesisOpen Targets
0.04Suggestive
dentinogenesis imperfectaOpen Targets
0.04Suggestive
Hepatic veno-occlusive disease - immunodeficiencyOpen Targets
0.04Suggestive
hepatic veno-occlusive disease-immunodeficiency syndromeOpen Targets
0.04Suggestive
ghosal hematodiaphyseal dysplasiaOpen Targets
0.04Suggestive
autoinflammation with episodic fever and lymphadenopathyOpen Targets
0.04Suggestive
Burkitts lymphomaOpen Targets
0.03Suggestive
Testicular regression syndromeOpen Targets
0.03Suggestive
esophageal squamous cell carcinomaOpen Targets
0.03Suggestive
X-linked non-syndromic intellectual disabilityOpen Targets
0.03Suggestive
idiopathic hypereosinophilic syndromeOpen Targets
0.03Suggestive
Mantle cell lymphomaOpen Targets
0.03Suggestive
immunodeficiency 75Open Targets
0.03Suggestive
chronic kidney diseaseOpen Targets
0.00Suggestive
infectious diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PABIR3Shared pathway100%SUMO2Shared pathway50%DET1Shared pathway50%PABIR1Shared pathway33%ZYG11BShared pathway33%HSPBP1Shared pathway33%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
65%
Brain
64%
Heart
36%
Lung
36%
Liver
23%
Gene Interaction Network
Click a node to explore
PABIR2PABIR3SUMO2DET1PABIR1ZYG11BHSPBP1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q7Z309
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.58Moderately Constrained
pLIβ“˜
0.89Intermediate
Observed/Expected LoF0.31 [0.17–0.58]
RankingsWhere PABIR2 stands among ~20K protein-coding genes
  • #11,568of 20,598
    Most Researched32
  • #3,826of 17,882
    Most Constrained (LOEUF)0.58 Β· top quartile
Genes detectedPABIR2
Sources retrieved0 papers
Response timeβ€”