PSMD2 (proteasome 26S subunit ubiquitin receptor, non-ATPase 2)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5708
Gene name Gene Name - the full gene name approved by the HGNC.
Proteasome 26S subunit ubiquitin receptor, non-ATPase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PSMD2
Synonyms (NCBI Gene) Gene synonyms aliases
P97, RPN1, S2, TRAP2
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q27.1
Summary Summary of gene provided in NCBI Entrez Gene.
The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits a
miRNA miRNA information provided by mirtarbase database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(50)
miRTarBase ID miRNA Experiments Reference
MIRT004400 hsa-miR-200a-3p Microarray, Northern blot 16331254
MIRT051506 hsa-let-7e-5p CLASH 23622248
MIRT050480 hsa-miR-20a-5p CLASH 23622248
MIRT049452 hsa-miR-92a-3p CLASH 23622248
MIRT045290 hsa-miR-186-5p CLASH 23622248
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(23)
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:0005515 Function Protein binding IPI 11278995, 16189514, 16763564, 16990800, 18457437, 18922472, 19060904, 19490896, 19615732, 22901813, 25036637, 25416956, 26496610, 27880917, 28514442, 28539385, 32296183, 32814053, 33961781, 35271311
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
606223 9559 ENSG00000175166
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID Q13200
Protein name 26S proteasome non-ATPase regulatory subunit 2 (26S proteasome regulatory subunit RPN1) (26S proteasome regulatory subunit S2) (26S proteasome subunit p97) (Protein 55.11) (Tumor necrosis factor type 1 receptor-associated protein 2)
Protein function Component of the 26S proteasome, a multiprotein complex involved in the ATP-dependent degradation of ubiquitinated proteins. This complex plays a key role in the maintenance of protein homeostasis by removing misfolded or damaged proteins, which
PDB 5GJQ , 5GJR , 5L4K , 5LN3 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 5VHF , 5VHH , 5VHI , 5VHJ , 5VHM , 5VHN , 5VHO , 5VHP , 5VHQ , 5VHR , 5VHS , 6MSB , 6MSD , 6MSG , 6MSH , 6MSJ , 6MSK , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7UIH , 7UJD , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C , 7W3F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF17781 RPN1_RPN2_N 56 → 354 RPN1/RPN2 N-terminal domain Domain
PF01851 PC_rep 443 → 479 Proteasome/cyclosome repeat Repeat
PF01851 PC_rep 480 → 514 Proteasome/cyclosome repeat Repeat
PF18051 RPN1_C 853 → 906 26S proteasome non-ATPase regulatory subunit RPN1 C-terminal Domain
Tissue specificity TISSUE SPECIFICITY: Found in skeletal muscle, liver, heart, brain, kidney, pancreas, lung and placenta.
Sequence 
MEEGGRDKAPVQPQQSPAAAPGGTDEKPSGKERRDAGDKDKEQELSEEDKQLQDELEMLV
ERLGEKDTSLYRPALEELRRQIRSSTTSMTSVPKPLKFLRPHYGKLKEIYENMAPGENKR
FAADIISVLAMTMSGERECLKYRLVGSQEELASWGHEYVRHLAGEVAKEWQELDDAEKVQ
REPLLTLVKEIVPYNMAHNAEHEACDLLMEIEQVDMLEKDIDENAYAKVCLYLTSCVNYV
PEPENSALLRCALGVFRKFSRFPEALRLALMLNDMELVEDIFTSCKDVVVQKQMAFMLGR
HGVFLELSEDVEEYEDLTEIMSNVQLNSNFLALARELDIMEPKVPDDIYKTHLENNRFGG
SGSQVDSARMNLASSFVNGFVNAAFGQDKLLTDDGNKWLYKNKDHGMLSAAASLGMILLW
DVDGGLTQIDKYLYSSEDYIKSGALLACGIVNSGVRNECDPALALLSDYVLHNSNTMRLG
SIFGLGLAYAGSNREDVLTLLLPVMGDSKSSMEVAGVTALACGMIAVGSCNGDVTSTILQ
TIMEKSETELKDTYARWLPLGLGLNHLGKGEAIEAILAALEVVSEPFRSFANTLVDVCAY
AGSGNVLKVQQLLHICSEHFDSKEKEEDKDKKEKKDKDKKEAPADMGAHQGVAVLGIALI
AMGEEIGAEMALRTFGHLLRYGEPTLRRAVPLALALISVSNPRLNILDTLSKFSHDADPE
VSYNSIFAMGMVGSGTNNARLAAMLRQLAQYHAKDPNNLFMVRLAQGLTHLGKGTLTLCP
YHSDRQLMSQVAVAGLLTVLVSFLDVRNIILGKSHYVLYGLVAAMQPRMLVTFDEELRPL
PVSVRVGQAVDVVGQAGKPKTITGFQTHTTPVLLAHGERAELATEEFLPVTPILEGFVIL
RKNPNYDL
Sequence length 908
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 Other IDs Associated diseases
Show/Hide Unknown Diseases (1)
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
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 23874428
Breast Neoplasms Associate 29328377
Breast Neoplasms Stimulate 34839279
Carcinoma Hepatocellular Associate 31703613, 36292719
Carcinoma Non Small Cell Lung Associate 37864031
Colorectal Neoplasms Associate 35173535
Depressive Disorder Major Associate 31305436
Diabetes Mellitus Type 2 Associate 28253288
Heat Stress Disorders Associate 25280538
Leukemia Myeloid Acute Associate 25734857