PSMB9 (proteasome 20S subunit beta 9)

Gene
Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5698
Gene name Gene Name - the full gene name approved by the HGNC.
Proteasome 20S subunit beta 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSMB9
Synonyms (NCBI Gene) Gene synonyms aliases
LMP2, PRAAS3, PRAAS6, PSMB6i, RING12, beta1i
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p21.32
Summary Summary of gene provided in NCBI Entrez Gene.
The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta
SNPs SNP information provided by dbSNP.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs369359789 G>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(101)
miRTarBase ID miRNA Experiments Reference
MIRT683914 hsa-miR-216a-5p HITS-CLIP 23313552
MIRT683913 hsa-miR-6890-3p HITS-CLIP 23313552
MIRT683912 hsa-miR-6736-3p HITS-CLIP 23313552
MIRT683911 hsa-miR-660-3p HITS-CLIP 23313552
MIRT683910 hsa-miR-939-3p HITS-CLIP 23313552
Transcription factors
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(6)
Transcription factor Regulation Reference
IRF1 Activation 18694960
IRF1 Unknown 10764778;10921891;16703666;9632673
NFKB1 Unknown 18694960
RELA Unknown 18694960
SEC14L2 Unknown 7699330
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IEA
GO:0000502 Component Proteasome complex TAS 8666937
GO:0002376 Process Immune system process IEA
GO:0004175 Function Endopeptidase activity IBA
GO:0004298 Function Threonine-type endopeptidase activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Transcription factors Other IDs Associated diseases
MIM HGNC e!Ensembl
177045 9546 ENSG00000240065
Protein
Gene SNPs Transcription factors Other IDs Associated diseases
UniProt ID P28065
Protein name Proteasome subunit beta type-9 (EC 3.4.25.1) (Low molecular mass protein 2) (Macropain chain 7) (Multicatalytic endopeptidase complex chain 7) (Proteasome chain 7) (Proteasome subunit beta-1i) (Really interesting new gene 12 protein)
Protein function The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH (PubMed:33727065, PubMed:34819510). The
PDB 6AVO , 6E5B , 7AWE , 7B12 , 9FST
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00227 Proteasome 17 → 198 Proteasome subunit Domain
Sequence
Sequence length 219
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs Transcription factors Other IDs Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Proteasome-associated autoinflammatory syndrome proteasome-associated autoinflammatory syndrome 3 N/A N/A ClinVar
Psoriasis Psoriasis N/A N/A GWAS
Systemic lupus erythematosus Systemic lupus erythematosus N/A N/A GWAS
Show/Hide Text Mining Associations (96)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Inhibit 14997933
Achalasia Addisonianism Alacrimia syndrome Associate 36746983
Alveolitis Extrinsic Allergic Associate 20153157
Arthritis Associate 7763114
Arthritis Rheumatoid Associate 32998980, 39342401
Asthma Associate 32867763
Autoimmune Diseases Associate 24040045
Axial osteomalacia Associate 7763114
Breast Neoplasms Stimulate 35037412
Breast Neoplasms Associate 36746983, 36766731