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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	5718
Gene name	Proteasome 26S subunit, non-ATPase 12
Gene symbol	PSMD12
Synonyms (NCBI Gene)	Rpn5STISSp55
Chromosome	17
Chromosome location	17q24.2
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

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs895130488	G>A,T	Pathogenic	Synonymous variant, coding sequence variant, non coding transcript variant, stop gained
rs1114167442	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, stop gained
rs1114167443	A>C	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1114167444	T>C	Pathogenic	Splice acceptor variant, non coding transcript variant
rs1403781576	C>A,G	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs1567954436	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1567955779	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1598560094	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598563750	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1598574154	GA>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant

130

Show/Hide all (130)

miRTarBase ID	miRNA	Experiments	Reference
MIRT021584	hsa-miR-142-3p	Microarray	17612493
MIRT021773	hsa-miR-132-3p	Microarray	17612493
MIRT031616	hsa-miR-16-5p	Proteomics	18668040
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT1270441	hsa-miR-548ac	CLIP-seq
MIRT1270442	hsa-miR-548d-3p	CLIP-seq
MIRT1270443	hsa-miR-548z	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT1270446	hsa-miR-208a	CLIP-seq
MIRT1270447	hsa-miR-208b	CLIP-seq
MIRT1270448	hsa-miR-3617	CLIP-seq
MIRT1270449	hsa-miR-3658	CLIP-seq
MIRT1270450	hsa-miR-371-5p	CLIP-seq
MIRT1270451	hsa-miR-371b-5p	CLIP-seq
MIRT1270452	hsa-miR-4282	CLIP-seq
MIRT1270453	hsa-miR-4294	CLIP-seq
MIRT1270454	hsa-miR-4528	CLIP-seq
MIRT1270455	hsa-miR-4789-5p	CLIP-seq
MIRT1270456	hsa-miR-499-5p	CLIP-seq
MIRT1270441	hsa-miR-548ac	CLIP-seq
MIRT1270442	hsa-miR-548d-3p	CLIP-seq
MIRT1270443	hsa-miR-548z	CLIP-seq
MIRT1270457	hsa-miR-641	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2079482	hsa-miR-3667-5p	CLIP-seq
MIRT2079483	hsa-miR-4263	CLIP-seq
MIRT2079484	hsa-miR-4422	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2079486	hsa-miR-4509	CLIP-seq
MIRT2079487	hsa-miR-4744	CLIP-seq
MIRT2079488	hsa-miR-4799-5p	CLIP-seq
MIRT2079489	hsa-miR-576-5p	CLIP-seq
MIRT2079490	hsa-miR-590-3p	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT2079491	hsa-miR-617	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT2305768	hsa-miR-132	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305770	hsa-miR-212	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT2079491	hsa-miR-617	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393149	hsa-miR-105	CLIP-seq
MIRT2393150	hsa-miR-129-5p	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2393151	hsa-miR-450b-5p	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT2393152	hsa-miR-507	CLIP-seq
MIRT2393153	hsa-miR-518a-5p	CLIP-seq
MIRT2393154	hsa-miR-527	CLIP-seq
MIRT2393155	hsa-miR-557	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393156	hsa-miR-767-5p	CLIP-seq
MIRT2393149	hsa-miR-105	CLIP-seq
MIRT2393150	hsa-miR-129-5p	CLIP-seq
MIRT1270446	hsa-miR-208a	CLIP-seq
MIRT1270447	hsa-miR-208b	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT1270448	hsa-miR-3617	CLIP-seq
MIRT1270449	hsa-miR-3658	CLIP-seq
MIRT1270450	hsa-miR-371-5p	CLIP-seq
MIRT1270451	hsa-miR-371b-5p	CLIP-seq
MIRT2603047	hsa-miR-3974	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT1270452	hsa-miR-4282	CLIP-seq
MIRT1270453	hsa-miR-4294	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2393151	hsa-miR-450b-5p	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT2603048	hsa-miR-4766-5p	CLIP-seq
MIRT2603049	hsa-miR-488	CLIP-seq
MIRT1270456	hsa-miR-499-5p	CLIP-seq
MIRT2393152	hsa-miR-507	CLIP-seq
MIRT2393153	hsa-miR-518a-5p	CLIP-seq
MIRT2393154	hsa-miR-527	CLIP-seq
MIRT2393155	hsa-miR-557	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT1270457	hsa-miR-641	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393156	hsa-miR-767-5p	CLIP-seq
MIRT2393149	hsa-miR-105	CLIP-seq
MIRT2393150	hsa-miR-129-5p	CLIP-seq
MIRT1270446	hsa-miR-208a	CLIP-seq
MIRT1270447	hsa-miR-208b	CLIP-seq
MIRT2305769	hsa-miR-2110	CLIP-seq
MIRT1270439	hsa-miR-2113	CLIP-seq
MIRT2305771	hsa-miR-3150a-3p	CLIP-seq
MIRT1270448	hsa-miR-3617	CLIP-seq
MIRT1270449	hsa-miR-3658	CLIP-seq
MIRT1270450	hsa-miR-371-5p	CLIP-seq
MIRT1270451	hsa-miR-371b-5p	CLIP-seq
MIRT2603047	hsa-miR-3974	CLIP-seq
MIRT2305772	hsa-miR-4271	CLIP-seq
MIRT1270452	hsa-miR-4282	CLIP-seq
MIRT1270453	hsa-miR-4294	CLIP-seq
MIRT2079485	hsa-miR-4471	CLIP-seq
MIRT2393151	hsa-miR-450b-5p	CLIP-seq
MIRT2305773	hsa-miR-4725-3p	CLIP-seq
MIRT1270440	hsa-miR-4742-3p	CLIP-seq
MIRT2603048	hsa-miR-4766-5p	CLIP-seq
MIRT2603049	hsa-miR-488	CLIP-seq
MIRT1270456	hsa-miR-499-5p	CLIP-seq
MIRT2393152	hsa-miR-507	CLIP-seq
MIRT2393153	hsa-miR-518a-5p	CLIP-seq
MIRT2393154	hsa-miR-527	CLIP-seq
MIRT2393155	hsa-miR-557	CLIP-seq
MIRT1270444	hsa-miR-599	CLIP-seq
MIRT1270445	hsa-miR-630	CLIP-seq
MIRT1270457	hsa-miR-641	CLIP-seq
MIRT2305774	hsa-miR-642b	CLIP-seq
MIRT2393156	hsa-miR-767-5p	CLIP-seq

Show/Hide all (18)

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:0005515	Function	Protein binding	IPI	16990800, 26030138, 28514442, 33961781, 35271311
GO:0005576	Component	Extracellular region	TAS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	TAS
GO:0005838	Component	Proteasome regulatory particle	IEA
GO:0005838	Component	Proteasome regulatory particle	TAS	9426256
GO:0008541	Component	Proteasome regulatory particle, lid subcomplex	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0022624	Component	Proteasome accessory complex	IEA
GO:0022624	Component	Proteasome accessory complex	ISS
GO:0034774	Component	Secretory granule lumen	TAS
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	NAS	19489727
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
604450	9557	ENSG00000197170

O00232

Protein name

26S proteasome non-ATPase regulatory subunit 12 (26S proteasome regulatory subunit RPN5) (26S proteasome regulatory subunit p55)

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 , 5M32 , 5T0C , 5T0G , 5T0H , 5T0I , 5T0J , 5VFP , 5VFQ , 5VFR , 5VFS , 5VFT , 5VFU , 5VGZ , 5VHF , 5VHH , 5VHI , 5VHS , 6MSB , 6MSD , 6MSE , 6MSG , 6MSH , 6MSJ , 6MSK , 6WJD , 6WJN , 7QXN , 7QXP , 7QXU , 7QXW , 7QXX , 7QY7 , 7QYA , 7QYB , 7W37 , 7W38 , 7W39 , 7W3A , 7W3B , 7W3C , 7W3F , 7W3G , 7W3H , 7W3I , 7W3J , 7W3K , 7W3M

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01399	PCI	300 → 417	PCI domain	Domain
PF18098	RPN5_C	422 → 454	26S proteasome regulatory subunit RPN5 C-terminal domain	Domain

Sequence

MADGGSERADGRIVKMEVDYSATVDQRLPECAKLAKEGRLQEVIETLLSLEKQTRTASDM
VSTSRILVAVVKMCYEAKEWDLLNENIMLLSKRRSQLKQAVAKMVQQCCTYVEEITDLPI
KLRLIDTLRMVTEGKIYVEIERARLTKTLATIKEQNGDVKEAASILQELQVETYGSMEKK
ERVEFILEQMRLCLAVKDYIRTQIISKKINTKFFQEENTEKLKLKYYNLMIQLDQHEGSY
LSICKHYRAIYDTPCIQAESEKWQQALKSVVLYVILAPFDNEQSDLVHRISGDKKLEEIP
KYKDLLKLFTTMELMRWSTLVEDYGMELRKGSLESPATDVFGSTEEGEKRWKDLKNRVVE
HNIRIMAKYYTRITMKRMAQLLDLSVDESEAFLSNLVVNKTIFAKVDRLAGIINFQRPKD
PNNLLNDWSQKLNSLMSLVNKTTHLIAKEEMIHNLQ

Sequence length

456

Interactions

View interactions

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual disability	Likely pathogenic	rs2041974262	RCV001257776
PSMD12-related disorder	Likely pathogenic	rs2509685660	RCV003418998
Stankiewicz-Isidor syndrome	Pathogenic; Likely pathogenic	rs2143688328, rs2509679289, rs140191153, rs2509684335, rs1114167442, rs1114167443, rs895130488, rs1114167444, rs1403781576, rs1598574154, rs2041990527	RCV002226841 RCV002795899 RCV003494047 RCV004584581 RCV000490796 RCV000490798 RCV000490795 RCV000490797 RCV000791275 RCV000995616 RCV005634014

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Neurodevelopmental disorder	Uncertain significance	rs2143724794	RCV002277668
See cases	Uncertain significance	rs761725668, rs1221537109	RCV002252887 RCV003985705
Spermatogenic failure 18	Uncertain significance	rs1332334979	RCV001836977

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	34818353
Adenocarcinoma of Lung	Associate	40528170
Autism Spectrum Disorder	Associate	30421579
Autistic Disorder	Associate	30421579
Brain Neoplasms	Stimulate	40528170
Breast Neoplasms	Stimulate	34839279
Carcinoma Hepatocellular	Associate	36137220
Colonic Neoplasms	Associate	35712285
Developmental Disabilities	Associate	30421579, 34906456, 35080150
Diastrophic dysplasia	Associate	34906456
Exanthema	Associate	35080150
Facial Dysmorphism with Multiple Malformations	Associate	34906456
Graves Ophthalmopathy	Associate	36076300
Hereditary Autoinflammatory Diseases	Associate	35080150
Inflammation	Associate	35080150
Intellectual Disability	Associate	30421579, 34906456
Neoplasms	Stimulate	36137220, 40528170
Syndrome	Associate	34906456, 35080150

PSMD12 (proteasome 26S subunit, non-ATPase 12)