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Gene Gene information from NCBI Gene database.
Entrez ID 5683
Gene name Proteasome 20S subunit alpha 2
Gene symbol PSMA2
Synonyms (NCBI Gene)
HC3MUPMSA2PSC2
Chromosome 7
Chromosome location 7p14.1
Summary 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
miRNA miRNA information provided by mirtarbase database.
184 Show/Hide all (184)
miRTarBase ID miRNA Experiments Reference
MIRT021801 hsa-miR-132-3p Microarray 17612493
MIRT052368 hsa-let-7a-5p CLASH 23622248
MIRT048696 hsa-miR-99a-5p CLASH 23622248
MIRT048439 hsa-miR-100-5p CLASH 23622248
MIRT045788 hsa-miR-191-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30 Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0000502 Component Proteasome complex IDA 17323924
GO:0000502 Component Proteasome complex IEA
GO:0000502 Component Proteasome complex NAS 29636472
GO:0000502 Component Proteasome complex TAS 8811196
GO:0000932 Component P-body IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
176842 9531 ENSG00000106588
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P25787
Protein name Proteasome subunit alpha type-2 (Macropain subunit C3) (Multicatalytic endopeptidase complex subunit C3) (Proteasome component C3) (Proteasome subunit alpha-2) (alpha-2)
Protein function Component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. Associated with
PDB 4R3O , 4R67 , 5A0Q , 5GJQ , 5GJR , 5L4G , 5LE5 , 5LEX , 5LEY , 5LEZ , 5LF0 , 5LF1 , 5LF3 , 5LF4 , 5LF6 , 5LF7 , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFO , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 6AVO , 6E5B , 6KWY , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6R70 , 6REY , 6RGQ , 6WJD , 6WJN , 6XMJ , 7AWE , 7B12 , 7LXV , 7NAN , 7NAO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00227 Proteasome 29 → 213 Proteasome subunit Domain
PF10584 Proteasome_A_N 6 → 28 Proteasome subunit A N-terminal signature Family
Sequence
Sequence length 234
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
KEGG Pathway Reactome Pathway
Proteasome Activation of NF-kappaB in B cells
Alzheimer disease Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
Parkinson disease Cross-presentation of soluble exogenous antigens (endosomes)
Amyotrophic lateral sclerosis Autodegradation of Cdh1 by Cdh1:APC/C
Huntington disease SCF-beta-TrCP mediated degradation of Emi1
Spinocerebellar ataxia APC/C:Cdc20 mediated degradation of Securin
Prion disease APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
Pathways of neurodegeneration - multiple diseases Cdc20:Phospho-APC/C mediated degradation of Cyclin A
  Vpu mediated degradation of CD4
  Vif-mediated degradation of APOBEC3G
  SCF(Skp2)-mediated degradation of p27/p21
  Degradation of beta-catenin by the destruction complex
  Downstream TCR signaling
  Separation of Sister Chromatids
  FCERI mediated NF-kB activation
  Autodegradation of the E3 ubiquitin ligase COP1
  Regulation of ornithine decarboxylase (ODC)
  ABC-family proteins mediated transport
  AUF1 (hnRNP D0) binds and destabilizes mRNA
  Asymmetric localization of PCP proteins
  Degradation of AXIN
  Degradation of DVL
  Hedgehog ligand biogenesis
  Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
  Dectin-1 mediated noncanonical NF-kB signaling
  CLEC7A (Dectin-1) signaling
  Degradation of GLI1 by the proteasome
  GLI3 is processed to GLI3R by the proteasome
  Hedgehog 'on' state
  Regulation of RAS by GAPs
  TNFR2 non-canonical NF-kB pathway
  NIK-->noncanonical NF-kB signaling
  Defective CFTR causes cystic fibrosis
  MAPK6/MAPK4 signaling
  UCH proteinases
  Ub-specific processing proteases
  Neutrophil degranulation
  CDT1 association with the CDC6:ORC:origin complex
  Orc1 removal from chromatin
  CDK-mediated phosphorylation and removal of Cdc6
  G2/M Checkpoints
  Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
  Ubiquitin-dependent degradation of Cyclin D
  The role of GTSE1 in G2/M progression after G2 checkpoint
  FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
  RUNX1 regulates transcription of genes involved in differentiation of HSCs
  Regulation of RUNX2 expression and activity
  Regulation of RUNX3 expression and activity
  Regulation of PTEN stability and activity
  Neddylation
  Interleukin-1 signaling
  Antigen processing: Ubiquitination & Proteasome degradation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
HEART DISEASES — CTD, Disgenet
CTD, Disgenet
16844662
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS — CTD, Disgenet
CTD, Disgenet
18924182
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (20)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amyloidosis Amyloidosis Pubtator 15388584 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 39342401 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 11533053 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 33684886 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Diabetes mellitus, type 2 Pubtator 39342401 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Heart Diseases Heart Diseases CTD_human_DG 16844662
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute Myeloid leukemia Pubtator 29781401 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression BEFREE 28375208
★★★★★
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 31150679
★★★★★
★☆☆☆☆
Found in Text Mining only