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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 subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a member of the peptidase T1A family, that is a 20S core alpha subunit. [provided by RefSeq, Jul 2008]
PSMA2 (Proteasome 20S Subunit Alpha 2) is a Protein Coding gene. Diseases associated with PSMA2 include Cystic Fibrosis. Among its related pathways are Downstream signaling events of B Cell Receptor (BCR) and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include endopeptidase activity and threonine-type endopeptidase activity. An important paralog of this gene is ENSG00000256646.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J042929 | Promoter/Enhancer | 2 | EPDnew Ensembl ENCODE CraniofacialAtlas | 250.7 | +0.3 | 284 | 5 | TBP SP1 MXD4 SIX5 NR2C1 MNT IKZF1 SMAD5 ETS1 IRF2 | MRPL32 ENSG00000256646 PSMA2 NONHSAG047444.2 C7orf25 HECW1 ENSG00000261019 HSALNG0057543 | |
GH07J042913 | Enhancer | 0.7 | FANTOM5 ENCODE | 0.4 | +17.8 | 17760 | 1.4 | POLR2A ZMYM3 ZBTB17 RUNX3 CEBPB ZNF121 | C7orf25 MRPL32 LOC105375252 ENSG00000256646 PSMA2 | |
GH07J042915 | Enhancer | 0.2 | ENCODE | 0.4 | +16.7 | 16688 | 0.2 | C7orf25 LOC105375252 ENSG00000256646 PSMA2 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004175 | endopeptidase activity | IBA | 21873635 |
GO:0005515 | protein binding | IPI | 12376572 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000502 | proteasome complex | IEA,IDA | 17323924 |
GO:0000932 | P-body | IEA,ISS | -- |
GO:0005576 | extracellular region | TAS | -- |
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | CDK-mediated phosphorylation and removal of Cdc6 |
.93
.93
|
.80
.80
.78
.70
.47
.31
|
2 | RET signaling |
.92
|
.92
|
3 | Chks in Checkpoint Regulation |
Chks in Checkpoint Regulation
.59
G2-M Phase Transition
.59
Estrogen-mediated S-Phase Entry
.55
|
SREBP Proteolysis
.43
DNA Repair Mechanisms
.32
Parkinson's Disease Pathway
.31
|
4 | HIV Life Cycle |
.64
|
.45
|
5 | Pathways of neurodegeneration - multiple diseases |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000165 | MAPK cascade | TAS | -- |
GO:0000209 | protein polyubiquitination | TAS | -- |
GO:0002223 | stimulatory C-type lectin receptor signaling pathway | TAS | -- |
GO:0002479 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent | TAS | -- |
GO:0006511 | ubiquitin-dependent protein catabolic process | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Bortezomib | Approved, Investigational | Pharma | inhibitor, other | Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors | 926 | |
carfilzomib | Approved, Investigational | Pharma | other, Inhibitor | Other, 20S Proteasome Inhibitor | 0 | |
(3AR,6R,6AS)-6-((S)-((S)-CYCLOHEX-2-ENYL)(HYDROXY)METHYL)-6A-METHYL-4-OXO-HEXAHYDRO-2H-FURO[3,2-C]PYRROLE-6-CARBALDEHYDE | Experimental | Pharma | Target | 0 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: | - | ||||||||||||||||||||
SP3: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PSMA2 30 |
|
||
Dog (Canis familiaris) |
Mammalia | PSMA2 30 |
|
||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | PSMA2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Psma2 30 17 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Psma2 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Chicken (Gallus gallus) |
Aves | PSMA2 30 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | psma2 30 |
|
||
Str.1067 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.2546 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | si:rp71-45k5.4 31 |
|
ManyToMany | |
psma2 30 31 |
|
ManyToMany | |||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10816 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP001995 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Pros25 30 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | pas-2 30 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PRE8 30 31 33 |
|
OneToMany | |
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D10373g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL354W 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G79210 30 |
|
||
Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.1634 30 |
|
||
Soybean (Glycine max) |
eudicotyledons | Gma.2259 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0634900 30 |
|
||
Os.10566 30 |
|
||||
Wheat (Triticum aestivum) |
Liliopsida | Ta.14373 30 |
|
||
Corn (Zea mays) |
Liliopsida | Zm.16922 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pre8 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU06764 30 |
|
||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.15545 30 |
|
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs28503255 | Benign: not provided | 42,923,394(-) |
T/C NM_002787.5(PSMA2):c.387A>G (p.Pro129=) |
SYNONYMOUS | |
VAR_036278 | A colorectal cancer sample |
p.Leu110Val |
Disorder | Aliases | PubMed IDs |
---|---|---|
cystic fibrosis |
|
|