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

Gene

• Entrez ID: 5708
• Gene name: Proteasome 26S subunit ubiquitin receptor, non-ATPase 2
• Gene symbol: PSMD2
• Synonyms (NCBI Gene): P97, RPN1, S2, TRAP2
• Chromosome: 3
• Chromosome location: 3q27.1
• Summary: 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

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
MIRT044106	hsa-miR-361-5p	CLASH	23622248
MIRT043381	hsa-miR-331-3p	CLASH	23622248
MIRT043028	hsa-miR-324-5p	CLASH	23622248
MIRT042898	hsa-miR-324-3p	CLASH	23622248
MIRT039985	hsa-miR-615-3p	CLASH	23622248
MIRT039985	hsa-miR-615-3p	CLASH	23622248
MIRT1270502	hsa-miR-1264	CLIP-seq
MIRT1270503	hsa-miR-1273	CLIP-seq
MIRT1270504	hsa-miR-1273c	CLIP-seq
MIRT1270505	hsa-miR-1276	CLIP-seq
MIRT1270506	hsa-miR-2278	CLIP-seq
MIRT1270507	hsa-miR-4459	CLIP-seq
MIRT1270508	hsa-miR-4695-5p	CLIP-seq
MIRT1270509	hsa-miR-4722-5p	CLIP-seq
MIRT1270510	hsa-miR-4797-3p	CLIP-seq
MIRT1270511	hsa-miR-495	CLIP-seq
MIRT1270512	hsa-miR-548n	CLIP-seq
MIRT1270513	hsa-miR-548t	CLIP-seq
MIRT1270514	hsa-miR-802	CLIP-seq
MIRT2079493	hsa-miR-1207-3p	CLIP-seq
MIRT1270503	hsa-miR-1273	CLIP-seq
MIRT1270504	hsa-miR-1273c	CLIP-seq
MIRT2079494	hsa-miR-370	CLIP-seq
MIRT1270507	hsa-miR-4459	CLIP-seq
MIRT1270508	hsa-miR-4695-5p	CLIP-seq
MIRT1270509	hsa-miR-4722-5p	CLIP-seq
MIRT2305783	hsa-miR-1184	CLIP-seq
MIRT2305784	hsa-miR-1205	CLIP-seq
MIRT1270503	hsa-miR-1273	CLIP-seq
MIRT1270504	hsa-miR-1273c	CLIP-seq
MIRT1270505	hsa-miR-1276	CLIP-seq
MIRT1270506	hsa-miR-2278	CLIP-seq
MIRT2305785	hsa-miR-3158-5p	CLIP-seq
MIRT2305786	hsa-miR-361-3p	CLIP-seq
MIRT2305787	hsa-miR-3679-3p	CLIP-seq
MIRT1270507	hsa-miR-4459	CLIP-seq
MIRT1270508	hsa-miR-4695-5p	CLIP-seq
MIRT1270509	hsa-miR-4722-5p	CLIP-seq
MIRT1270510	hsa-miR-4797-3p	CLIP-seq
MIRT1270511	hsa-miR-495	CLIP-seq
MIRT1270514	hsa-miR-802	CLIP-seq
MIRT1270510	hsa-miR-4797-3p	CLIP-seq
MIRT1270514	hsa-miR-802	CLIP-seq
MIRT1270510	hsa-miR-4797-3p	CLIP-seq
MIRT1270514	hsa-miR-802	CLIP-seq

Gene ontology (GO)

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
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	IEA
GO:0005838	Component	Proteasome regulatory particle	TAS	8774743
GO:0008540	Component	Proteasome regulatory particle, base subcomplex	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0022624	Component	Proteasome accessory complex	IEA
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0030234	Function	Enzyme regulator activity	IEA
GO:0034515	Component	Proteasome storage granule	IBA
GO:0034774	Component	Secretory granule lumen	TAS
GO:0042176	Process	Regulation of protein catabolic process	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0070062	Component	Extracellular exosome	HDA	20458337
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

Other IDs

• MIM: 606223
• HGNC: 9559
• e!Ensembl: ENSG00000175166

Protein

• 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

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21465578, 25830243		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10845931		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	10529437		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21781992, 24885147		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27515058		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	29777785		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	29328377	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34839279	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	10563779, 9258449		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31703613, 36292719	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21465578		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	16905170		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	26655237		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	16905170, 25830243		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35173535	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	20116073		★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	31305436	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28253288	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28253288		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29636364		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	18260132, 21781992, 22579784, 24196964, 26112410, 28303975, 28819009		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	18337449		★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	18260132, 20512113, 21781992, 22579784, 24878061, 28303975, 29804830		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1	Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia	BEFREE	28939772		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	25734857	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31703613		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	25280538	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26112410		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	20414249		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	30664664		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	29777785		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21465578		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31136974		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1651587, 21383145, 24878061, 25685910, 26555175, 27086594, 28451587, 28819009, 28847819, 29211715, 29777785, 30830772, 31316150, 7927871		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	16905170		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30664664		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10563779, 2419904, 28380302, 3754536		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28843399, 28878026, 30954557		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	21781992, 22579784, 24196964, 26112410, 27753622, 28303975, 28512218, 28819009		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	37875476	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25830243, 28380302, 28819009, 29777785, 6326658, 7927871		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30584095, 31701538		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24878061, 31316150, 31550150		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	18260132, 21781992, 22579784, 24196964, 26112410, 28303975, 28819009, 30335548		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37349676	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	18260132, 21781992, 22579784, 24196964, 26112410, 28303975, 28819009		★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	28843399		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28843399		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	28451587		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20116073		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26655237		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34398824	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31705877		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31136974		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31136974	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid hemiagenesis	Thyroid hemiagenesis	BEFREE	28390009		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	28390009	Associate	★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	26471729		★☆☆☆☆ Found in Text Mining only