Human Gene PSMD2 (uc003fnn.1)
  Description: Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.
RefSeq Summary (NM_002808): 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 and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes one of the non-ATPase subunits of the 19S regulator lid. In addition to participation in proteasome function, this subunit may also participate in the TNF signalling pathway since it interacts with the tumor necrosis factor type 1 receptor. A pseudogene has been identified on chromosome 1. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].
Transcript (Including UTRs)
   Position: hg19 chr3:184,017,022-184,026,840 Size: 9,819 Total Exon Count: 21 Strand: +
Coding Region
   Position: hg19 chr3:184,017,055-184,026,678 Size: 9,624 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:184,017,022-184,026,840)mRNA (may differ from genome)Protein (908 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedReactomeTreefam
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PSMD2_HUMAN
DESCRIPTION: RecName: Full=26S proteasome non-ATPase regulatory subunit 2; AltName: Full=26S proteasome regulatory subunit RPN1; AltName: Full=26S proteasome regulatory subunit S2; AltName: Full=26S proteasome subunit p97; AltName: Full=Protein 55.11; AltName: Full=Tumor necrosis factor type 1 receptor-associated protein 2;
FUNCTION: Acts as a regulatory subunit of the 26 proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins.
FUNCTION: Binds to the intracellular domain of tumor necrosis factor type 1 receptor. The binding domain of TRAP1 and TRAP2 resides outside the death domain of TNFR1.
INTERACTION: P62191:PSMC1; NbExp=6; IntAct=EBI-357648, EBI-357598;
TISSUE SPECIFICITY: Found in skeletal muscle, liver, heart, brain, kidney, pancreas, lung and placenta.
SIMILARITY: Belongs to the proteasome subunit S2 family.
SIMILARITY: Contains 7 PC repeats.
SEQUENCE CAUTION: Sequence=AAA87705.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

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-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PSMD2
CDC HuGE Published Literature: PSMD2

-  MalaCards Disease Associations
  MalaCards Gene Search: PSMD2
Diseases sorted by gene-association score: cystic fibrosis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 86.36 RPKM in Muscle - Skeletal
Total median expression: 2009.63 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -11.1033-0.336 Picture PostScript Text
3' UTR -50.20162-0.310 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016643 - 26S_Psome_Rpn1
IPR002015 - APC_proteasome
IPR011989 - ARM-like
IPR016024 - ARM-type_fold

Pfam Domains:
PF01851 - Proteasome/cyclosome repeat

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q13200
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologGenome BrowserGenome BrowserGenome Browser
Gene Details  Gene DetailsGene DetailsGene Details
Gene Sorter  Gene SorterGene SorterGene Sorter
   FlyBaseWormBaseSGD
   Protein SequenceProtein SequenceProtein Sequence
   AlignmentAlignmentAlignment

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0030234 enzyme regulator activity
GO:0004175 endopeptidase activity

Biological Process:
GO:0016579 protein deubiquitination
GO:0042176 regulation of protein catabolic process
GO:0043161 proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043312 neutrophil degranulation
GO:0043687 post-translational protein modification
GO:0050790 regulation of catalytic activity

Cellular Component:
GO:0000502 proteasome complex
GO:0005576 extracellular region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005829 cytosol
GO:0005838 proteasome regulatory particle
GO:0008540 proteasome regulatory particle, base subcomplex
GO:0016020 membrane
GO:0022624 proteasome accessory complex
GO:0034515 proteasome storage granule
GO:0034774 secretory granule lumen
GO:0070062 extracellular exosome
GO:1904813 ficolin-1-rich granule lumen


-  Descriptions from all associated GenBank mRNAs
  AK095245 - Homo sapiens cDNA FLJ37926 fis, clone CTONG2000977, highly similar to 26S PROTEASOME REGULATORY SUBUNIT S2.
LF210552 - JP 2014500723-A/18055: Polycomb-Associated Non-Coding RNAs.
D78151 - Homo sapiens mRNA for 26S proteasome subunit p97, complete cds.
AK315474 - Homo sapiens cDNA, FLJ96535.
AK297256 - Homo sapiens cDNA FLJ53357 complete cds, highly similar to 26S proteasome non-ATPase regulatory subunit 2.
BC002997 - Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2, mRNA (cDNA clone MGC:3871 IMAGE:2905429), complete cds.
AB209843 - Homo sapiens mRNA for proteasome 26S non-ATPase subunit 2 variant protein.
BC002368 - Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2, mRNA (cDNA clone MGC:8500 IMAGE:2822191), complete cds.
AB385107 - Synthetic construct DNA, clone: pF1KB5493, Homo sapiens PSMD2 gene for 26S proteasome non-ATPase regulatory subunit 2, complete cds, without stop codon, in Flexi system.
KJ905879 - Synthetic construct Homo sapiens clone ccsbBroadEn_15549 PSMD2 gene, encodes complete protein.
BT009736 - Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 mRNA, complete cds.
KJ891924 - Synthetic construct Homo sapiens clone ccsbBroadEn_01318 PSMD2 gene, encodes complete protein.
KJ897410 - Synthetic construct Homo sapiens clone ccsbBroadEn_06804 PSMD2 gene, encodes complete protein.
BC007897 - Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2, mRNA (cDNA clone MGC:14274 IMAGE:4131391), complete cds.
X86446 - H.sapiens mRNA for 55.11 binding protein.
U12596 - Human tumor necrosis factor type 1 receptor associated protein (TRAP2) mRNA, complete cds.
AK302177 - Homo sapiens cDNA FLJ55045 complete cds, highly similar to 26S proteasome non-ATPase regulatory subunit 2.
AK301759 - Homo sapiens cDNA FLJ54077 complete cds, highly similar to 26S proteasome non-ATPase regulatory subunit 2.
U18247 - Human p67 mRNA, complete cds.
MA446129 - JP 2018138019-A/18055: Polycomb-Associated Non-Coding RNAs.
AL162014 - Homo sapiens mRNA; cDNA DKFZp564A2282 (from clone DKFZp564A2282).
JD462633 - Sequence 443657 from Patent EP1572962.
CU675853 - Synthetic construct Homo sapiens gateway clone IMAGE:100017835 5' read PSMD2 mRNA.
LF338762 - JP 2014500723-A/146265: Polycomb-Associated Non-Coding RNAs.
LF338763 - JP 2014500723-A/146266: Polycomb-Associated Non-Coding RNAs.
LF338764 - JP 2014500723-A/146267: Polycomb-Associated Non-Coding RNAs.
LF338765 - JP 2014500723-A/146268: Polycomb-Associated Non-Coding RNAs.
JD021311 - Sequence 2335 from Patent EP1572962.
JD034078 - Sequence 15102 from Patent EP1572962.
LF338766 - JP 2014500723-A/146269: Polycomb-Associated Non-Coding RNAs.
JD417365 - Sequence 398389 from Patent EP1572962.
JD409877 - Sequence 390901 from Patent EP1572962.
LF338767 - JP 2014500723-A/146270: Polycomb-Associated Non-Coding RNAs.
LF338768 - JP 2014500723-A/146271: Polycomb-Associated Non-Coding RNAs.
MA574339 - JP 2018138019-A/146265: Polycomb-Associated Non-Coding RNAs.
MA574340 - JP 2018138019-A/146266: Polycomb-Associated Non-Coding RNAs.
MA574341 - JP 2018138019-A/146267: Polycomb-Associated Non-Coding RNAs.
MA574342 - JP 2018138019-A/146268: Polycomb-Associated Non-Coding RNAs.
MA574343 - JP 2018138019-A/146269: Polycomb-Associated Non-Coding RNAs.
MA574344 - JP 2018138019-A/146270: Polycomb-Associated Non-Coding RNAs.
MA574345 - JP 2018138019-A/146271: Polycomb-Associated Non-Coding RNAs.
LF338769 - JP 2014500723-A/146272: Polycomb-Associated Non-Coding RNAs.
LF338770 - JP 2014500723-A/146273: Polycomb-Associated Non-Coding RNAs.
DQ597362 - Homo sapiens piRNA piR-35428, complete sequence.
LF338771 - JP 2014500723-A/146274: Polycomb-Associated Non-Coding RNAs.
LF338772 - JP 2014500723-A/146275: Polycomb-Associated Non-Coding RNAs.
JD209696 - Sequence 190720 from Patent EP1572962.
JD535096 - Sequence 516120 from Patent EP1572962.
MA574346 - JP 2018138019-A/146272: Polycomb-Associated Non-Coding RNAs.
MA574347 - JP 2018138019-A/146273: Polycomb-Associated Non-Coding RNAs.
MA574348 - JP 2018138019-A/146274: Polycomb-Associated Non-Coding RNAs.
MA574349 - JP 2018138019-A/146275: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa03050 - Proteasome

BioCyc Knowledge Library
PWY3DJ-213 - Targeted protein degradation

Reactome (by CSHL, EBI, and GO)

Protein Q13200 (Reactome details) participates in the following event(s):

R-HSA-5665871 ADRM1 binds 26S proteasome
R-HSA-8956140 NEDD8 and UBD bind NUB1 and the 26S proteasome
R-HSA-6800434 Exocytosis of ficolin-rich granule lumen proteins
R-HSA-6798748 Exocytosis of secretory granule lumen proteins
R-HSA-5665854 ADRM1:26S proteaseome binds UCHL5
R-HSA-5689539 ADRM1:26S proteaseome binds USP14
R-HSA-5689603 UCH proteinases
R-HSA-8951664 Neddylation
R-HSA-6798695 Neutrophil degranulation
R-HSA-5689880 Ub-specific processing proteases
R-HSA-5688426 Deubiquitination
R-HSA-597592 Post-translational protein modification
R-HSA-68827 CDT1 association with the CDC6:ORC:origin complex
R-HSA-68949 Orc1 removal from chromatin
R-HSA-69017 CDK-mediated phosphorylation and removal of Cdc6
R-HSA-69601 Ubiquitin Mediated Degradation of Phosphorylated Cdc25A
R-HSA-69229 Ubiquitin-dependent degradation of Cyclin D1
R-HSA-174178 APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1
R-HSA-174154 APC/C:Cdc20 mediated degradation of Securin
R-HSA-2467813 Separation of Sister Chromatids
R-HSA-174113 SCF-beta-TrCP mediated degradation of Emi1
R-HSA-174184 Cdc20:Phospho-APC/C mediated degradation of Cyclin A
R-HSA-180534 Vpu mediated degradation of CD4
R-HSA-180585 Vif-mediated degradation of APOBEC3G
R-HSA-9020702 Interleukin-1 signaling
R-HSA-211733 Regulation of activated PAK-2p34 by proteasome mediated degradation
R-HSA-349425 Autodegradation of the E3 ubiquitin ligase COP1
R-HSA-350562 Regulation of ornithine decarboxylase (ODC)
R-HSA-450408 AUF1 (hnRNP D0) binds and destabilizes mRNA
R-HSA-983168 Antigen processing: Ubiquitination & Proteasome degradation
R-HSA-1169091 Activation of NF-kappaB in B cells
R-HSA-1234176 Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
R-HSA-1236974 ER-Phagosome pathway
R-HSA-1236978 Cross-presentation of soluble exogenous antigens (endosomes)
R-HSA-4641258 Degradation of DVL
R-HSA-195253 Degradation of beta-catenin by the destruction complex
R-HSA-4641257 Degradation of AXIN
R-HSA-4608870 Asymmetric localization of PCP proteins
R-HSA-5358346 Hedgehog ligand biogenesis
R-HSA-5362768 Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
R-HSA-202424 Downstream TCR signaling
R-HSA-2871837 FCERI mediated NF-kB activation
R-HSA-5607764 CLEC7A (Dectin-1) signaling
R-HSA-5607761 Dectin-1 mediated noncanonical NF-kB signaling
R-HSA-5676590 NIK-->noncanonical NF-kB signaling
R-HSA-5610785 GLI3 is processed to GLI3R by the proteasome
R-HSA-5610783 Degradation of GLI2 by the proteasome
R-HSA-5610780 Degradation of GLI1 by the proteasome
R-HSA-5632684 Hedgehog 'on' state
R-HSA-5658442 Regulation of RAS by GAPs
R-HSA-5668541 TNFR2 non-canonical NF-kB pathway
R-HSA-5687128 MAPK6/MAPK4 signaling
R-HSA-8948751 Regulation of PTEN stability and activity
R-HSA-69481 G2/M Checkpoints
R-HSA-8852276 The role of GTSE1 in G2/M progression after G2 checkpoint
R-HSA-8854050 FBXL7 down-regulates AURKA during mitotic entry and in early mitosis
R-HSA-382556 ABC-family proteins mediated transport
R-HSA-5678895 Defective CFTR causes cystic fibrosis
R-HSA-8939236 RUNX1 regulates transcription of genes involved in differentiation of HSCs
R-HSA-8939902 Regulation of RUNX2 expression and activity
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-174084 Autodegradation of Cdh1 by Cdh1:APC/C
R-HSA-187577 SCF(Skp2)-mediated degradation of p27/p21
R-HSA-8941858 Regulation of RUNX3 expression and activity
R-HSA-168249 Innate Immune System
R-HSA-392499 Metabolism of proteins
R-HSA-68867 Assembly of the pre-replicative complex
R-HSA-69052 Switching of origins to a post-replicative state
R-HSA-69610 p53-Independent DNA Damage Response
R-HSA-75815 Ubiquitin-dependent degradation of Cyclin D
R-HSA-174143 APC/C-mediated degradation of cell cycle proteins
R-HSA-176409 APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-68882 Mitotic Anaphase
R-HSA-176408 Regulation of APC/C activators between G1/S and early anaphase
R-HSA-179419 APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint
R-HSA-162909 Host Interactions of HIV factors
R-HSA-446652 Interleukin-1 family signaling
R-HSA-169911 Regulation of Apoptosis
R-HSA-69541 Stabilization of p53
R-HSA-351202 Metabolism of polyamines
R-HSA-450531 Regulation of mRNA stability by proteins that bind AU-rich elements
R-HSA-983169 Class I MHC mediated antigen processing & presentation
R-HSA-1168372 Downstream signaling events of B Cell Receptor (BCR)
R-HSA-1234174 Regulation of Hypoxia-inducible Factor (HIF) by oxygen
R-HSA-1236975 Antigen processing-Cross presentation
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-195721 Signaling by WNT
R-HSA-4086400 PCP/CE pathway
R-HSA-5358351 Signaling by Hedgehog
R-HSA-5387390 Hh mutants abrogate ligand secretion
R-HSA-202403 TCR signaling
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-5621481 C-type lectin receptors (CLRs)
R-HSA-5610787 Hedgehog 'off' state
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-5683057 MAPK family signaling cascades
R-HSA-6807070 PTEN Regulation
R-HSA-69620 Cell Cycle Checkpoints
R-HSA-69275 G2/M Transition
R-HSA-382551 Transport of small molecules
R-HSA-5619084 ABC transporter disorders
R-HSA-8878171 Transcriptional regulation by RUNX1
R-HSA-8878166 Transcriptional regulation by RUNX2
R-HSA-376176 Signaling by ROBO receptors
R-HSA-69202 Cyclin E associated events during G1/S transition
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entry
R-HSA-8878159 Transcriptional regulation by RUNX3
R-HSA-168256 Immune System
R-HSA-69002 DNA Replication Pre-Initiation
R-HSA-69239 Synthesis of DNA
R-HSA-69613 p53-Independent G1/S DNA damage checkpoint
R-HSA-69242 S Phase
R-HSA-453276 Regulation of mitotic cell cycle
R-HSA-176814 Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins
R-HSA-2555396 Mitotic Metaphase and Anaphase
R-HSA-162906 HIV Infection
R-HSA-449147 Signaling by Interleukins
R-HSA-109581 Apoptosis
R-HSA-69563 p53-Dependent G1 DNA Damage Response
R-HSA-71291 Metabolism of nitrogenous molecules
R-HSA-8953854 Metabolism of RNA
R-HSA-1280218 Adaptive Immune System
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-2262749 Cellular response to hypoxia
R-HSA-162582 Signal Transduction
R-HSA-3858494 Beta-catenin independent WNT signaling
R-HSA-5663202 Diseases of signal transduction
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-1640170 Cell Cycle
R-HSA-453274 Mitotic G2-G2/M phases
R-HSA-5619115 Disorders of transmembrane transporters
R-HSA-212436 Generic Transcription Pathway
R-HSA-422475 Axon guidance
R-HSA-69206 G1/S Transition
R-HSA-68874 M/G1 Transition
R-HSA-69306 DNA Replication
R-HSA-69615 G1/S DNA Damage Checkpoints
R-HSA-69278 Cell Cycle (Mitotic)
R-HSA-68886 M Phase
R-HSA-5663205 Infectious disease
R-HSA-5357801 Programmed Cell Death
R-HSA-69580 p53-Dependent G1/S DNA damage checkpoint
R-HSA-1430728 Metabolism
R-HSA-2262752 Cellular responses to stress
R-HSA-1643685 Disease
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1266738 Developmental Biology
R-HSA-453279 Mitotic G1-G1/S phases
R-HSA-8953897 Cellular responses to external stimuli
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: NM_002808, NP_002799, PSMD2_HUMAN, Q12932, Q13200, Q15321, Q53XQ4, Q96I12, TRAP2
UCSC ID: uc003fnn.1
RefSeq Accession: NM_002808
Protein: Q13200 (aka PSMD2_HUMAN)
CCDS: CCDS3258.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_002808.3
exon count: 21CDS single in 3' UTR: no RNA size: 2990
ORF size: 2727CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 4547.00frame shift in genome: no % Coverage: 97.73
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.