Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PSMD2 Gene

Aliases for PSMD2 Gene

  • Proteasome 26S Subunit, Non-ATPase 2 2 3 5
  • Proteasome (Prosome, Macropain) 26S Subunit, Non-ATPase, 2 2 3
  • Tumor Necrosis Factor Type 1 Receptor-Associated Protein 2 3 4
  • Protein 55.11 3 4
  • TRAP2 3 4
  • 26S Proteasome Non-ATPase Regulatory Subunit 2 3
  • 26S Proteasome Regulatory Subunit RPN1 4
  • 26S Proteasome Regulatory Subunit S2 4
  • 26S Proteasome Subunit P97 4
  • TNFR-Associated Protein 2 3
  • 55.11 Protein 3
  • RPN1 3
  • P97 3
  • S2 3

External Ids for PSMD2 Gene

Previous GeneCards Identifiers for PSMD2 Gene

  • GC03P180586
  • GC03P185010
  • GC03P185418
  • GC03P185337
  • GC03P185500
  • GC03P184016
  • GC03P181423

Summaries for PSMD2 Gene

Entrez Gene Summary for PSMD2 Gene

  • 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]

GeneCards Summary for PSMD2 Gene

PSMD2 (Proteasome 26S Subunit, Non-ATPase 2) is a Protein Coding gene. Diseases associated with PSMD2 include Cystic Fibrosis. Among its related pathways are RET signaling and Regulation of activated PAK-2p34 by proteasome mediated degradation. GO annotations related to this gene include binding and enzyme regulator activity.

UniProtKB/Swiss-Prot for PSMD2 Gene

  • Acts as a regulatory subunit of the 26 proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins.

  • 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.

Gene Wiki entry for PSMD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PSMD2 Gene

Genomics for PSMD2 Gene

Regulatory Elements for PSMD2 Gene

Enhancers for PSMD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F184318 1.3 Ensembl ENCODE 13.2 +22.3 22344 5.3 PKNOX1 SIN3A FEZF1 RAD21 GLIS2 ZNF366 SCRT2 FOS EGR2 ZNF263 PSMD2 ABCF3 DVL3 GC03P184326 EIF4G1
GH03F184298 0.2 ENCODE 12 +1.0 961 2.9 HDGF PKNOX1 MLX ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 HTR3D EHHADH-AS1 ENSG00000271682 PSMD2 LINC02069 EIF2B5 RPS3P3 ABCF3 PARL VWA5B2
GH03F184154 0.4 ENCODE 10.5 -142.3 -142313 4.2 ARID4B SIN3A DMAP1 ZNF121 SLC30A9 GLIS2 ELK1 ZNF143 KLF7 KLF13 EIF2B5 ALG3 ECE2 CAMK2N2 ABCF3 PSMD2 VWA5B2 MIR1224 EIF4G1 SNORD66
GH03F184184 0.6 ENCODE 10.4 -112.6 -112612 3.6 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 YY1 SLC30A9 VWA5B2 POLR2H ABCF3 EIF2B5 ALG3 ECE2 MIR1224 CAMK2N2 PSMD2 EIF4G1
GH03F183966 0.2 ENCODE 10.1 -332.2 -332182 0.2 ZNF687 PKNOX1 MNT DPF2 RAD21 ZNF217 SREBF1 E2F1 ZNF316 GATA3 ABCC5-AS1 HTR3C PARL RPSAP31 HTR3E-AS1 EIF2B5 PSMD2 CAMK2N2 PIR62380
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PSMD2 on UCSC Golden Path with GeneCards custom track

Promoters for PSMD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001381289 492 2000 HDGF MLX ARNT CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Genomic Location for PSMD2 Gene

Chromosome:
3
Start:
184,298,709 bp from pter
End:
184,309,054 bp from pter
Size:
10,346 bases
Orientation:
Plus strand

Genomic View for PSMD2 Gene

Genes around PSMD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PSMD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PSMD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PSMD2 Gene

Proteins for PSMD2 Gene

  • Protein details for PSMD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13200-PSMD2_HUMAN
    Recommended name:
    26S proteasome non-ATPase regulatory subunit 2
    Protein Accession:
    Q13200
    Secondary Accessions:
    • B4DX07
    • B4DXY1
    • E7EW34
    • E9PCS3
    • Q12932
    • Q15321
    • Q53XQ4
    • Q96I12

    Protein attributes for PSMD2 Gene

    Size:
    908 amino acids
    Molecular mass:
    100200 Da
    Quaternary structure:
    • Interacts with RPGRIP1L.
    SequenceCaution:
    • Sequence=AAA87705.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PSMD2 Gene

    Alternative splice isoforms for PSMD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PSMD2 Gene

Post-translational modifications for PSMD2 Gene

  • Ubiquitination at Lys 31, Lys 66, Lys 105, Lys 141, Lys 178, Lys 286, Lys 292, Lys 350, Lys 397, Lys 441, Lys 754, Lys 773, Lys 858, Lys 860, and Lys 902
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PSMD2 Gene

Domains & Families for PSMD2 Gene

Gene Families for PSMD2 Gene

Protein Domains for PSMD2 Gene

Suggested Antigen Peptide Sequences for PSMD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13200

UniProtKB/Swiss-Prot:

PSMD2_HUMAN :
  • Belongs to the proteasome subunit S2 family.
  • Contains 7 PC repeats.
Family:
  • Belongs to the proteasome subunit S2 family.
Similarity:
  • Contains 7 PC repeats.
genes like me logo Genes that share domains with PSMD2: view

Function for PSMD2 Gene

Molecular function for PSMD2 Gene

UniProtKB/Swiss-Prot Function:
Acts as a regulatory subunit of the 26 proteasome which is involved in the ATP-dependent degradation of ubiquitinated proteins.
UniProtKB/Swiss-Prot 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.

Gene Ontology (GO) - Molecular Function for PSMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004175 contributes_to endopeptidase activity IBA --
GO:0005515 protein binding IPI 11278995
GO:0030234 enzyme regulator activity IEA --
genes like me logo Genes that share ontologies with PSMD2: view
genes like me logo Genes that share phenotypes with PSMD2: view

Animal Model Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PSMD2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PSMD2 Gene

Localization for PSMD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PSMD2 Gene COMPARTMENTS Subcellular localization image for PSMD2 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
plasma membrane 3
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PSMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000502 proteasome complex IDA,TAS 17323924
GO:0005634 nucleus IBA --
GO:0005654 nucleoplasm TAS --
GO:0005829 cytosol TAS --
GO:0005838 proteasome regulatory particle TAS 8774743
genes like me logo Genes that share ontologies with PSMD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PSMD2 Gene

Pathways & Interactions for PSMD2 Gene

SuperPathways for PSMD2 Gene

SuperPathway Contained pathways
1 Regulation of activated PAK-2p34 by proteasome mediated degradation
.78
.32
2 RET signaling
3 Chks in Checkpoint Regulation
4 HIV Life Cycle
.45
5 Class I MHC mediated antigen processing and presentation
genes like me logo Genes that share pathways with PSMD2: view

Gene Ontology (GO) - Biological Process for PSMD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000209 protein polyubiquitination TAS --
GO:0002223 stimulatory C-type lectin receptor signaling pathway TAS --
GO:0002479 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent TAS --
GO:0006521 regulation of cellular amino acid metabolic process TAS --
genes like me logo Genes that share ontologies with PSMD2: view

No data available for SIGNOR curated interactions for PSMD2 Gene

Drugs & Compounds for PSMD2 Gene

(4) Drugs for PSMD2 Gene - From: DGIdb

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Bortezomib Approved, Investigational Pharma inhibitor, other Proteosome and NF-kappaB inhibitor, Other, Proteasome inhibitors 794
carfilzomib Approved Pharma other, Inhibitor Other, 20S Proteasome Inhibitor 0
MLN-9708 Pharma 0
OPROZOMIB Pharma 0
genes like me logo Genes that share compounds with PSMD2: view

Transcripts for PSMD2 Gene

Unigene Clusters for PSMD2 Gene

Proteasome (prosome, macropain) 26S subunit, non-ATPase, 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for PSMD2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PSMD2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b · 6c · 6d · 6e ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11 ^ 12 ^
SP1:
SP2: - - - - -
SP3:
SP4:
SP5:
SP6: - - - - - -
SP7:
SP8:
SP9: - - - - - - - - -
SP10: - - - - -
SP11:
SP12: - - -
SP13: - - - -
SP14: -
SP15: -
SP16:
SP17:

ExUns: 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:

Relevant External Links for PSMD2 Gene

GeneLoc Exon Structure for
PSMD2
ECgene alternative splicing isoforms for
PSMD2

Expression for PSMD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PSMD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PSMD2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for PSMD2 Gene

This gene is overexpressed in Lymph node (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PSMD2 Gene



Protein tissue co-expression partners for PSMD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PSMD2 Gene:

PSMD2

SOURCE GeneReport for Unigene cluster for PSMD2 Gene:

Hs.518464

mRNA Expression by UniProt/SwissProt for PSMD2 Gene:

Q13200-PSMD2_HUMAN
Tissue specificity: Found in skeletal muscle, liver, heart, brain, kidney, pancreas, lung and placenta.
genes like me logo Genes that share expression patterns with PSMD2: view

Primer Products

Orthologs for PSMD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PSMD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PSMD2 34 35
  • 99.67 (n)
oppossum
(Monodelphis domestica)
Mammalia PSMD2 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PSMD2 34 35
  • 92.95 (n)
dog
(Canis familiaris)
Mammalia PSMD2 34 35
  • 92.66 (n)
mouse
(Mus musculus)
Mammalia Gm5422 35
  • 92 (a)
OneToMany
Psmd2 34 16 35
  • 90.86 (n)
rat
(Rattus norvegicus)
Mammalia Psmd2 34
  • 90.05 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PSMD2 35
  • 61 (a)
OneToOne
chicken
(Gallus gallus)
Aves PSMD2 34 35
  • 81.3 (n)
lizard
(Anolis carolinensis)
Reptilia PSMD2 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia psmd2 34
  • 78.37 (n)
Str.8194 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.26549 34
zebrafish
(Danio rerio)
Actinopterygii psmd2 34 35
  • 78.09 (n)
PSMD2 (1 of 2) 35
  • 68 (a)
OneToMany
zgc65921 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1127 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002481 34
  • 65 (n)
fruit fly
(Drosophila melanogaster)
Insecta Rpn1 36 34 35
  • 63.4 (n)
worm
(Caenorhabditis elegans)
Secernentea rpn-1 34 35
  • 57.91 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR072C 34
  • 53.16 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RPN1 34 35 37
  • 51.62 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0E11507g 34
  • 51.29 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons RPN1A 34
  • 56.11 (n)
soybean
(Glycine max)
eudicotyledons Gma.1623 34
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.6563 34
rice
(Oryza sativa)
Liliopsida Os09g0326800 34
  • 57.41 (n)
Os.12327 34
barley
(Hordeum vulgare)
Liliopsida Hv.1785 34
wheat
(Triticum aestivum)
Liliopsida Ta.20762 34
corn
(Zea mays)
Liliopsida Zm.5526 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 65 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU07721 34
  • 55.46 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mts4 34
  • 53.65 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4602 34
Species where no ortholog for PSMD2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PSMD2 Gene

ENSEMBL:
Gene Tree for PSMD2 (if available)
TreeFam:
Gene Tree for PSMD2 (if available)

Paralogs for PSMD2 Gene

(1) SIMAP similar genes for PSMD2 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for PSMD2 Gene

genes like me logo Genes that share paralogs with PSMD2: view

No data available for Paralogs for PSMD2 Gene

Variants for PSMD2 Gene

Sequence variations from dbSNP and Humsavar for PSMD2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1049440 -- 184,308,907(+) GGGCT(C/T)TGAAC utr-variant-3-prime
rs1049448 -- 184,308,935(+) GCAGG(A/C)CATGC utr-variant-3-prime
rs1049459 -- 184,308,976(+) GACTT(C/T)TGGGG utr-variant-3-prime
rs10937165 -- 184,299,290(+) GACAA(A/G)GCGCC upstream-variant-2KB, reference, synonymous-codon
rs111678874 -- 184,298,477(+) CGGGC(A/G)GATCA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PSMD2 Gene

Variant ID Type Subtype PubMed ID
dgv961e214 CNV gain 21293372
esv2422400 CNV duplication 17116639
nsv829812 CNV loss 17160897
nsv829813 CNV loss 17160897

Variation tolerance for PSMD2 Gene

Residual Variation Intolerance Score: 11.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.98; 68.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PSMD2 Gene

Human Gene Mutation Database (HGMD)
PSMD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PSMD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PSMD2 Gene

Disorders for PSMD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PSMD2 Gene - From: GeneCards

Disorder Aliases PubMed IDs
cystic fibrosis
  • pseudomonas aeruginosa chronic infection by, in cystic fibrosis
- elite association - COSMIC cancer census association via MalaCards
Search PSMD2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PSMD2

Genetic Association Database (GAD)
PSMD2
Human Genome Epidemiology (HuGE) Navigator
PSMD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PSMD2
genes like me logo Genes that share disorders with PSMD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PSMD2 Gene

Publications for PSMD2 Gene

  1. cDNA cloning and functional analysis of the p97 subunit of the 26S proteasome, a polypeptide identical to the type-1 tumor-necrosis- factor-receptor-associated protein-2/55.11. (PMID: 8774743) Tsurumi C. … Tanaka K. (Eur. J. Biochem. 1996) 2 3 4 22 64
  2. Two-hybrid cloning of a gene encoding TNF receptor-associated protein 2, a protein that interacts with the intracellular domain of the type 1 TNF receptor: identity with subunit 2 of the 26S protease. (PMID: 9126987) Dunbar J.D. … Donner D.B. (J. Immunol. 1997) 3 4 22 64
  3. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  4. Follow-up examination of linkage and association to chromosome 1q43 in multiple sclerosis. (PMID: 19626040) McCauley J.L. … Haines J.L. (Genes Immun. 2009) 3 46 64
  5. Mass spectrometric characterization of the affinity-purified human 26S proteasome complex. (PMID: 17323924) Wang X. … Huang L. (Biochemistry 2007) 3 4 64

Products for PSMD2 Gene