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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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PSMA6
proteasome 20S subunit alpha 6
Chromosome 14 · 14q13.2
NCBI Gene: 5687Ensembl: ENSG00000100902.12HGNC: HGNC:9535UniProt: A0A140VK44
320PubMed Papers
20Diseases
6Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
CLINICAL
FDA Approved Target
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
proteasome core complexprotein bindingregulation of inflammatory responseresponse to oxidative stressmultiple myelomaneoplasmMantle cell lymphomaHIV infection
✦AI Summary

PSMA6 encodes the alpha-6 subunit of the 20S proteasome core complex, which functions as a critical component in protein degradation pathways 1. The protein participates in both ubiquitin-dependent protein degradation as part of the 26S proteasome complex and ubiquitin-independent degradation when associated with regulatory particles PA200 or PA28. Genetic variants in PSMA6, particularly the functional polymorphism rs1048990 (C/G) located in the 5' untranslated region, have been extensively studied for disease associations 2. Meta-analysis of 15,991 cases and 16,784 controls demonstrated that the G allele of this polymorphism significantly increases coronary artery disease risk (OR 1.09, 95% CI: 1.02-1.16), with stronger associations observed in East Asian populations compared to Caucasians 3. The variant shows protective effects against end-stage kidney disease (OR 0.34, 95% CI 0.26-0.45) but is associated with left ventricular hypertrophy in kidney disease patients 4. Additional studies have linked PSMA6 variants to type 2 diabetes mellitus 5 and juvenile idiopathic arthritis, particularly in sex-specific and subtype-specific patterns 6. The functional significance of these variants may involve altered transcription factor binding and proteasome expression levels 6.

Sources cited
1
PSMA6 is a myocardial infarction susceptibility gene identified through GWAS
PMID: 26134515
2
rs1048990 polymorphism is associated with myocardial infarction susceptibility in Chinese population
PMID: 19272601
3
Meta-analysis showing G allele increases CAD risk with ethnic variations
PMID: 23111455
4
PSMA6 polymorphism shows protective effects against end-stage kidney disease
PMID: 27671905
5
Association of PSMA6 variants with type 2 diabetes mellitus
PMID: 17555133
6
Sex-specific associations with juvenile idiopathic arthritis and plasma proteasome levels
PMID: 24875235
Disease Associationsⓘ20
multiple myelomaOpen Targets
0.60Moderate
neoplasmOpen Targets
0.51Moderate
Mantle cell lymphomaOpen Targets
0.50Moderate
HIV infectionOpen Targets
0.48Moderate
amyloidosisOpen Targets
0.37Weak
Crohn's diseaseOpen Targets
0.34Weak
ovarian dysfunctionOpen Targets
0.27Weak
glioblastoma multiformeOpen Targets
0.26Weak
brain glioblastomaOpen Targets
0.26Weak
skin cancerOpen Targets
0.18Weak
atopic eczemaOpen Targets
0.16Weak
psoriasisOpen Targets
0.14Weak
Eczematoid dermatitisOpen Targets
0.13Weak
non-small cell lung carcinomaOpen Targets
0.12Weak
lymphomaOpen Targets
0.12Weak
Waldenstrom macroglobulinemiaOpen Targets
0.11Weak
non-Hodgkins lymphomaOpen Targets
0.11Weak
leukemiaOpen Targets
0.10Weak
acute myeloid leukemiaOpen Targets
0.10Suggestive
AL amyloidosisOpen Targets
0.10Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Drug Targets6
BORTEZOMIB D-MANNITOLApproved
26S proteasome inhibitor
Mantle cell lymphoma
CARFILZOMIBApproved
26S proteasome inhibitor
multiple myeloma
IXAZOMIBApproved
26S proteasome inhibitor
multiple myeloma
IXAZOMIB CITRATEApproved
26S proteasome inhibitor
multiple myeloma
MARIZOMIBPhase III
20S proteasome inhibitor
brain glioblastoma
OPROZOMIBPhase II
26S proteasome inhibitor
Hodgkins lymphoma
Related Genes
PSMD8Protein interaction100%POMPProtein interaction100%PSMC1Protein interaction100%PSMB8Protein interaction100%PSMD14Protein interaction100%PSMB9Protein interaction100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
88%
Lung
88%
Heart
64%
Liver
58%
Ovary
52%
Gene Interaction Network
Click a node to explore
PSMA6PSMD8POMPPSMC1PSMB8PSMD14PSMB9
PROTEIN STRUCTURE
Preparing viewer…
PDB5LE5 · 1.80 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.12Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.00 [0.00–0.12]
RankingsWhere PSMA6 stands among ~20K protein-coding genes
  • #1,047of 20,598
    Most Researched320 · top 10%
  • #374of 1,025
    FDA-Approved Drug Targets4
  • #114of 17,882
    Most Constrained (LOEUF)0.12 · top 1%
Genes detectedPSMA6
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Association between functional variant of inflammatory system gene (PSMA6) and end-stage kidney disease.
PMID: 27671905
Int Urol Nephrol · 2016
1.00
2
SNPs of PSMA6 gene--investigation of possible association with myocardial infarction and type 2 diabetes mellitus.
PMID: 17555133
Genetika · 2007
0.90
3
The exon 1-8C/G SNP in the PSMA6 gene contributes only a small amount to the burden of myocardial infarction in 6946 cases and 2720 controls from a United Kingdom population.
PMID: 18231128
Eur J Hum Genet · 2008
0.84
4
Haplotypes encompassing the KIAA0391 and PSMA6 gene cluster confer a genetic link for myocardial infarction and coronary artery disease.
PMID: 19624571
Ann Hum Genet · 2009
0.80
5
Microsatellite genotyping of chromosome 14q13.2-14q13 in the vicinity of proteasomal gene PSMA6 and association with Graves' disease in the Latvian population.
PMID: 15205934
Immunogenetics · 2004
0.80