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

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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

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 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
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) 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
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
  PF01851	PC_rep	443 → 479	Proteasome/cyclosome repeat	Repeat
  PF01851	PC_rep	480 → 514	Proteasome/cyclosome repeat	Repeat
  PF17781	RPN1_RPN2_N	56 → 354	RPN1/RPN2 N-terminal domain	Domain
  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

Pathways

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
Epstein-Barr virus infection	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

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	Reference	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	40050429, 40645996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (58)
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

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PSMC2 55 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, Epstein-Barr virus infection, Regulation of PTEN stability and activity, Ub-specific processing proteases, Neddylation, Separation of Sister Chromatids, ABC-family proteins mediated transport, Regulation of RAS by GAPs, SCF(Skp2)-mediated degradation of p27/p21 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease. PSMC3 55 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, Epstein-Barr virus infection, Regulation of PTEN stability and activity, Ub-specific processing proteases, Neddylation, Separation of Sister Chromatids, ABC-family proteins mediated transport, Regulation of RAS by GAPs, SCF(Skp2)-mediated degradation of p27/p21 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease. PSMC4 55 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, Epstein-Barr virus infection, Regulation of PTEN stability and activity, Ub-specific processing proteases, Neddylation, Separation of Sister Chromatids, ABC-family proteins mediated transport, Regulation of RAS by GAPs, SCF(Skp2)-mediated degradation of p27/p21 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease. PSMC5 55 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, Epstein-Barr virus infection, Regulation of PTEN stability and activity, Ub-specific processing proteases, Neddylation, Separation of Sister Chromatids, ABC-family proteins mediated transport, Regulation of RAS by GAPs, SCF(Skp2)-mediated degradation of p27/p21 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease. PSMC6 55 shared pathwaysProteasome, Parkinson disease, Spinocerebellar ataxia, Prion disease, Epstein-Barr virus infection, Regulation of PTEN stability and activity, Ub-specific processing proteases, Neddylation, Separation of Sister Chromatids, ABC-family proteins mediated transport, Regulation of RAS by GAPs, SCF(Skp2)-mediated degradation of p27/p21 +43 more Related via 55 shared pathways including Proteasome, Parkinson disease.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PSMC2	0	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	0	[]
PSMC3	0	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	0	[]
PSMC4	0	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	0	[]
PSMC5	0	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	0	[]
PSMC6	0	[]	55	["Proteasome","Parkinson disease","Spinocerebellar ataxia","Prion disease","Epstein-Barr virus infection","Regulation of PTEN stability and activity","Ub-specific processing proteases","Neddylation","Separation of Sister Chromatids","ABC-family proteins mediated transport","Regulation of RAS by GAPs","SCF(Skp2)-mediated degradation of p27\/p21"]	0	[]

Diseases Linked via Similar Genes

Alzheimer disease Linked via 2 of 5 related genesPSMC3, PSMC6 Neurodevelopmental disorder Linked via 2 of 5 related genesPSMC3, PSMC5 Hearing loss Linked via 1 of 5 related genesPSMC2 Diabetes mellitus type 2 Linked via 1 of 5 related genesPSMC2 Anomalous pulmonary venous Linked via 1 of 5 related genesPSMC3

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Alzheimer disease	2	["PSMC3","PSMC6"]
Neurodevelopmental disorder	2	["PSMC3","PSMC5"]
Hearing loss	1	["PSMC2"]
Diabetes mellitus type 2	1	["PSMC2"]
Anomalous pulmonary venous	1	["PSMC3"]