PSMG2 (proteasome assembly chaperone 2)

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

Gene

• Entrez ID: 56984
• Gene name: Proteasome assembly chaperone 2
• Gene symbol: PSMG2
• Synonyms (NCBI Gene): CLAST3, HCCA3, HsT1707, MDS003, PAC2, PRAAS4, TNFSF5IP1
• Chromosome: 18
• Chromosome location: 18p11.21

miRNA Show/Hide all (56)

miRTarBase ID	miRNA	Experiments	Reference
MIRT051798	hsa-let-7c-5p	CLASH	23622248
MIRT048483	hsa-miR-100-5p	CLASH	23622248
MIRT079715	hsa-miR-548ag	PAR-CLIP	20371350
MIRT079716	hsa-miR-548ai	PAR-CLIP	20371350
MIRT079717	hsa-miR-548ba	PAR-CLIP	20371350
MIRT079710	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT079711	hsa-miR-595	PAR-CLIP	20371350
MIRT514330	hsa-miR-503-3p	PAR-CLIP	20371350
MIRT514329	hsa-miR-2052	PAR-CLIP	20371350
MIRT514328	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT514327	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT514326	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT079712	hsa-miR-1225-5p	PAR-CLIP	20371350
MIRT079713	hsa-miR-1229-5p	PAR-CLIP	20371350
MIRT079715	hsa-miR-548ag	PAR-CLIP	23446348
MIRT079716	hsa-miR-548ai	PAR-CLIP	23446348
MIRT079717	hsa-miR-548ba	PAR-CLIP	23446348
MIRT079710	hsa-miR-570-5p	PAR-CLIP	23446348
MIRT079711	hsa-miR-595	PAR-CLIP	23446348
MIRT514330	hsa-miR-503-3p	PAR-CLIP	23446348
MIRT514329	hsa-miR-2052	PAR-CLIP	23446348
MIRT514328	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT514327	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT514326	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT079712	hsa-miR-1225-5p	PAR-CLIP	23446348
MIRT079713	hsa-miR-1229-5p	PAR-CLIP	23446348
MIRT079715	hsa-miR-548ag	PAR-CLIP	20371350
MIRT079716	hsa-miR-548ai	PAR-CLIP	20371350
MIRT079717	hsa-miR-548ba	PAR-CLIP	20371350
MIRT079710	hsa-miR-570-5p	PAR-CLIP	20371350
MIRT079711	hsa-miR-595	PAR-CLIP	20371350
MIRT514330	hsa-miR-503-3p	PAR-CLIP	20371350
MIRT514329	hsa-miR-2052	PAR-CLIP	20371350
MIRT514328	hsa-miR-19a-5p	PAR-CLIP	20371350
MIRT514327	hsa-miR-19b-1-5p	PAR-CLIP	20371350
MIRT514326	hsa-miR-19b-2-5p	PAR-CLIP	20371350
MIRT079712	hsa-miR-1225-5p	PAR-CLIP	20371350
MIRT079713	hsa-miR-1229-5p	PAR-CLIP	20371350
MIRT079715	hsa-miR-548ag	PAR-CLIP	23446348
MIRT079716	hsa-miR-548ai	PAR-CLIP	23446348
MIRT079717	hsa-miR-548ba	PAR-CLIP	23446348
MIRT079710	hsa-miR-570-5p	PAR-CLIP	23446348
MIRT079711	hsa-miR-595	PAR-CLIP	23446348
MIRT514330	hsa-miR-503-3p	PAR-CLIP	23446348
MIRT514329	hsa-miR-2052	PAR-CLIP	23446348
MIRT514328	hsa-miR-19a-5p	PAR-CLIP	23446348
MIRT514327	hsa-miR-19b-1-5p	PAR-CLIP	23446348
MIRT514326	hsa-miR-19b-2-5p	PAR-CLIP	23446348
MIRT079712	hsa-miR-1225-5p	PAR-CLIP	23446348
MIRT079713	hsa-miR-1229-5p	PAR-CLIP	23446348
MIRT1271031	hsa-miR-3145-3p	CLIP-seq
MIRT1271032	hsa-miR-4318	CLIP-seq
MIRT1271033	hsa-miR-4693-5p	CLIP-seq
MIRT1271034	hsa-miR-4699-3p	CLIP-seq
MIRT1271035	hsa-miR-892a	CLIP-seq
MIRT2306047	hsa-miR-3163	CLIP-seq

Gene ontology (GO) Show/Hide all (15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16251969, 25416956, 32296183, 33961781, 35271311, 35914814
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043248	Process	Proteasome assembly	IBA
GO:0051131	Process	Chaperone-mediated protein complex assembly	IDA	16251969
GO:0051131	Process	Chaperone-mediated protein complex assembly	IGI	17189198
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0060090	Function	Molecular adaptor activity	IGI	17189198
GO:0101031	Component	Protein folding chaperone complex	IDA	16251969

Other IDs

• MIM: 609702
• HGNC: 24929
• e!Ensembl: ENSG00000128789

Protein

• UniProt ID: Q969U7
• Protein name: Proteasome assembly chaperone 2 (PAC-2) (Hepatocellular carcinoma-susceptibility protein 3) (Tumor necrosis factor superfamily member 5-induced protein 1)
• Protein function: Chaperone protein which promotes assembly of the 20S proteasome as part of a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer binds to the PSMA5 and PSMA7 proteasome subunits, promotes assembly of the proteasome alpha subunits into the hetero
• PDB: 8QYJ , 8QYL , 8QYM , 8QYN , 8QYS , 8QZ9 , 8TM3 , 8TM4 , 8TM5 , 8TM6 , 8YIX , 8YIY , 8YIZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09754	PAC2	17 → 228	PAC2 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with highest levels in lung, brain and colon. Moderately expressed in muscle, stomach, spleen and heart. Weakly expressed in small intestine, pancreas and liver. Highly expressed in hepatocellular carcinomas with low l
• Sequence:

  MFVPCGESAPDLAGFTLLMPAVSVGNVGQLAMDLIISTLNMSKIGYFYTDCLVPMVGNNP
  YATTEGNSTELSINAEVYSLPSRKLVALQLRSIFIKYKSKPFCEKLLSWVKSSGCARVIV
  LSSSHSYQRNDLQLRSTPFRYLLTPSMQKSVQNKIKSLNWEEMEKSRCIPEIDDSEFCIR
  IPGGGITKTLYDESCSKEIQMAVLLKFVSEGDNIPDALGLVEYLNEWLQILKPLSDDPTV
  SASRWKIPSSWRLLFGSGLPPALF

• Sequence length: 264

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Proteasome-associated autoinflammatory syndrome 4	Pathogenic	rs2040458488	RCV001291936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (12)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Cervical cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS	—	GWAS catalog	37337107	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSMG2-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (8)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aicardi Goutieres syndrome	Aicardi goutieres syndrome	Pubtator	31874111	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	11854909	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11854909		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	11854909		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	11854909		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17242661, 19018091, 23257782, 26504152		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11854909		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	36707884	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

PSMB8 2 shared diseasesIga nephropathy, Proteasome associated autoinflammatory syndrome 4 shared evidence sourcesGWAS catalog (Iga nephropathy), ClinVar (Proteasome associated autoinflammatory syndrome), HPO (Proteasome associated autoinflammatory syndrome), Disgenet (Proteasome associated autoinflammatory syndrome) Related via 2 shared diseases including Iga nephropathy, Proteasome associated autoinflammatory syndrome — evidence mostly GWAS catalog. PSMB4 1 shared diseaseProteasome associated autoinflammatory syndrome 3 shared evidence sourcesClinVar (Proteasome associated autoinflammatory syndrome), HPO (Proteasome associated autoinflammatory syndrome), Disgenet (Proteasome associated autoinflammatory syndrome) Related via 1 shared disease including Proteasome associated autoinflammatory syndrome — evidence mostly ClinVar. POMP 1 shared diseaseProteasome associated autoinflammatory syndrome 3 shared evidence sourcesClinVar (Proteasome associated autoinflammatory syndrome), HPO (Proteasome associated autoinflammatory syndrome), Disgenet (Proteasome associated autoinflammatory syndrome) Related via 1 shared disease including Proteasome associated autoinflammatory syndrome — evidence mostly ClinVar. PSMB9 1 shared diseaseProteasome associated autoinflammatory syndrome 3 shared evidence sourcesClinVar (Proteasome associated autoinflammatory syndrome), HPO (Proteasome associated autoinflammatory syndrome), Disgenet (Proteasome associated autoinflammatory syndrome) Related via 1 shared disease including Proteasome associated autoinflammatory syndrome — evidence mostly ClinVar. PSMB10 1 shared diseaseProteasome associated autoinflammatory syndrome 3 shared evidence sourcesClinVar (Proteasome associated autoinflammatory syndrome), HPO (Proteasome associated autoinflammatory syndrome), Disgenet (Proteasome associated autoinflammatory syndrome) Related via 1 shared disease including Proteasome associated autoinflammatory syndrome — evidence mostly ClinVar.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
PSMB8	2	["Iga nephropathy","Proteasome associated autoinflammatory syndrome"]	0	[]	4	["GWAS catalog (Iga nephropathy)","ClinVar (Proteasome associated autoinflammatory syndrome)","HPO (Proteasome associated autoinflammatory syndrome)","Disgenet (Proteasome associated autoinflammatory syndrome)"]
PSMB4	1	["Proteasome associated autoinflammatory syndrome"]	0	[]	3	["ClinVar (Proteasome associated autoinflammatory syndrome)","HPO (Proteasome associated autoinflammatory syndrome)","Disgenet (Proteasome associated autoinflammatory syndrome)"]
POMP	1	["Proteasome associated autoinflammatory syndrome"]	0	[]	3	["ClinVar (Proteasome associated autoinflammatory syndrome)","HPO (Proteasome associated autoinflammatory syndrome)","Disgenet (Proteasome associated autoinflammatory syndrome)"]
PSMB9	1	["Proteasome associated autoinflammatory syndrome"]	0	[]	3	["ClinVar (Proteasome associated autoinflammatory syndrome)","HPO (Proteasome associated autoinflammatory syndrome)","Disgenet (Proteasome associated autoinflammatory syndrome)"]
PSMB10	1	["Proteasome associated autoinflammatory syndrome"]	0	[]	3	["ClinVar (Proteasome associated autoinflammatory syndrome)","HPO (Proteasome associated autoinflammatory syndrome)","Disgenet (Proteasome associated autoinflammatory syndrome)"]

Diseases Linked via Similar Genes

Candle syndrome Linked via 2 of 5 related genesPSMB8, PSMB4 Hypothyroidism Linked via 2 of 5 related genesPSMB8, PSMB9 Major depressive disorder Linked via 2 of 5 related genesPSMB8, PSMB4 Rheumatoid arthritis Linked via 2 of 5 related genesPSMB8, PSMB9 Systemic lupus erythematosus Linked via 2 of 5 related genesPSMB8, PSMB9

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Candle syndrome	2	["PSMB8","PSMB4"]
Hypothyroidism	2	["PSMB8","PSMB9"]
Major depressive disorder	2	["PSMB8","PSMB4"]
Rheumatoid arthritis	2	["PSMB8","PSMB9"]
Systemic lupus erythematosus	2	["PSMB8","PSMB9"]