Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5692
Gene name Gene Name - the full gene name approved by the HGNC.	Proteasome 20S subunit beta 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	PSMB4
Synonyms (NCBI Gene) Gene synonyms aliases	HN3, HsN3, PRAAS3, PROS-26, PROS26
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1q21.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs200946642	G>A,T	Pathogenic	5 prime UTR variant
rs1235715459	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1553209362	CTTAGTAGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs1553209373	C>A	Pathogenic	Coding sequence variant, stop gained

Show/Hide all(40)

miRTarBase ID	miRNA	Experiments	Reference
MIRT050351	hsa-miR-25-3p	CLASH	23622248
MIRT1270234	hsa-miR-1261	CLIP-seq
MIRT1270235	hsa-miR-1299	CLIP-seq
MIRT1270236	hsa-miR-3545-3p	CLIP-seq
MIRT1270237	hsa-miR-3973	CLIP-seq
MIRT1270238	hsa-miR-4277	CLIP-seq
MIRT1270239	hsa-miR-4436b-3p	CLIP-seq
MIRT1270240	hsa-miR-4480	CLIP-seq
MIRT1270241	hsa-miR-4662a-5p	CLIP-seq
MIRT1270242	hsa-miR-4699-3p	CLIP-seq
MIRT1270243	hsa-miR-4742-3p	CLIP-seq
MIRT1270244	hsa-miR-4761-3p	CLIP-seq
MIRT1270245	hsa-miR-4782-5p	CLIP-seq
MIRT1270246	hsa-miR-516b	CLIP-seq
MIRT1270247	hsa-miR-520d-5p	CLIP-seq
MIRT1270248	hsa-miR-520g	CLIP-seq
MIRT1270249	hsa-miR-520h	CLIP-seq
MIRT1270250	hsa-miR-524-5p	CLIP-seq
MIRT1270251	hsa-miR-548n	CLIP-seq
MIRT1270252	hsa-miR-548t	CLIP-seq
MIRT1270253	hsa-miR-891b	CLIP-seq
MIRT1270234	hsa-miR-1261	CLIP-seq
MIRT1270235	hsa-miR-1299	CLIP-seq
MIRT1270238	hsa-miR-4277	CLIP-seq
MIRT1270239	hsa-miR-4436b-3p	CLIP-seq
MIRT1270243	hsa-miR-4742-3p	CLIP-seq
MIRT1270244	hsa-miR-4761-3p	CLIP-seq
MIRT1270245	hsa-miR-4782-5p	CLIP-seq
MIRT1270246	hsa-miR-516b	CLIP-seq
MIRT1270253	hsa-miR-891b	CLIP-seq
MIRT1270234	hsa-miR-1261	CLIP-seq
MIRT1270235	hsa-miR-1299	CLIP-seq
MIRT1270238	hsa-miR-4277	CLIP-seq
MIRT1270239	hsa-miR-4436b-3p	CLIP-seq
MIRT1270243	hsa-miR-4742-3p	CLIP-seq
MIRT1270244	hsa-miR-4761-3p	CLIP-seq
MIRT1270245	hsa-miR-4782-5p	CLIP-seq
MIRT1270246	hsa-miR-516b	CLIP-seq
MIRT1270251	hsa-miR-548n	CLIP-seq
MIRT1270253	hsa-miR-891b	CLIP-seq

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IDA	17323924, 26524591
GO:0000502	Component	Proteasome complex	IEA
GO:0000502	Component	Proteasome complex	NAS	29636472
GO:0000502	Component	Proteasome complex	TAS	8811196
GO:0001530	Function	Lipopolysaccharide binding	IEA
GO:0002862	Process	Negative regulation of inflammatory response to antigenic stimulus	IEA
GO:0005515	Function	Protein binding	IPI	15231748, 17189198, 17948026, 25416956, 28514442, 31473102, 32296183, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	34711951
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	16130169
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IDA	34711951
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005839	Component	Proteasome core complex	IDA	34711951
GO:0005839	Component	Proteasome core complex	IEA
GO:0005839	Component	Proteasome core complex	ISS
GO:0019774	Component	Proteasome core complex, beta-subunit complex	IBA
GO:0019774	Component	Proteasome core complex, beta-subunit complex	ISS
GO:0036064	Component	Ciliary basal body	IDA	29257953
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IBA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IMP	26524591
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0051603	Process	Proteolysis involved in protein catabolic process	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337

MIM	HGNC	e!Ensembl
602177	9541	ENSG00000159377

Protein

UniProt ID

P28070

Protein name

Proteasome subunit beta type-4 (26 kDa prosomal protein) (HsBPROS26) (PROS-26) (Macropain beta chain) (Multicatalytic endopeptidase complex beta chain) (Proteasome beta chain) (Proteasome chain 3) (HsN3) (Proteasome subunit beta-7) (beta-7)

Protein function

Non-catalytic component of the 20S core proteasome complex involved in the proteolytic degradation of most intracellular proteins. This complex plays numerous essential roles within the cell by associating with different regulatory particles. As

PDB

4R3O , 4R67 , 5A0Q , 5GJQ , 5GJR , 5L4G , 5LE5 , 5LEX , 5LEY , 5LEZ , 5LF0 , 5LF1 , 5LF3 , 5LF4 , 5LF6 , 5LF7 , 5LN3 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFO , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 6AVO , 6E5B , 6KWY , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6R70 , 6REY , 6RGQ , 6WJD , 6WJN , 6XMJ , 7AWE , 7B12 , 7LXV , 7NAN , 7NAO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00227	Proteasome	50 → 237	Proteasome subunit	Domain

Sequence

MEAFLGSRSGLWAGGPAPGQFYRIPSTPDSFMDPASALYRGPITRTQNPMVTGTSVLGVK
FEGGVVIAADMLGSYGSLARFRNISRIMRVNNSTMLGASGDYADFQYLKQVLGQMVIDEE
LLGDGHSYSPRAIHSWLTRAMYSRRSKMNPLWNTMVIGGYADGESFLGYVDMLGVAYEAP
SLATGYGAYLAQPLLREVLEKQPVLSQTEARDLVERCMRVLYYRDARSYNRFQIATVTEK
GVEIEGPLSTETNWDIAHMISGFE

Sequence length

264

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Proteasome-associated autoinflammatory syndrome	proteasome-associated autoinflammatory syndrome 3, proteasome-associated autoinflammatory syndrome 1	rs1553209362, rs1553209373	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
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.
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Myocardial Infarction	Myocardial infarction	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Arthritis Rheumatoid	Associate	39342401
Carcinoma Hepatocellular	Associate	36062301
Carcinoma Renal Cell	Stimulate	35693739
Colorectal Neoplasms	Associate	37218575
Diabetes Mellitus Type 2	Associate	39342401
general anxiety disorder	Associate	36344488
Glioma	Associate	19783622
Lipodystrophy	Associate	34416217
Meningomyelocele	Associate	39774454
Muscle Neoplasms	Associate	25532418
Obsessive Compulsive Disorder	Associate	36344488

PSMB4 (proteasome 20S subunit beta 4)