Human Gene PSMG2 (uc002krk.3)
  Description: Homo sapiens proteasome (prosome, macropain) assembly chaperone 2 (PSMG2), transcript variant 1, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr18:12,702,987-12,725,739 Size: 22,753 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chr18:12,703,107-12,725,530 Size: 22,424 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:12,702,987-12,725,739)mRNA (may differ from genome)Protein (264 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMGI
neXtProtOMIMPubMedTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PSMG2_HUMAN
DESCRIPTION: RecName: Full=Proteasome assembly chaperone 2; Short=PAC-2; AltName: Full=Hepatocellular carcinoma-susceptibility protein 3; AltName: Full=Tumor necrosis factor superfamily member 5-induced protein 1;
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 heteroheptameric alpha ring and prevents alpha ring dimerization.
SUBUNIT: Forms a heterodimer with PSMG1. The PSMG1-PSMG2 heterodimer interacts directly with the PSMA5 and PSMA7 proteasome alpha subunits.
SUBCELLULAR LOCATION: Nucleus (By similarity).
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 levels in surrounding liver tissue.
PTM: Degraded by the proteasome upon completion of 20S proteasome maturation.
SIMILARITY: Belongs to the PSMG2 family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): PSMG2
CDC HuGE Published Literature: PSMG2
Positive Disease Associations: Crohn Disease , Diabetes Mellitus, Type 1
Related Studies:
  1. Crohn Disease
    Miles Parkes et al. Nature genetics 2007, Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility., Nature genetics. [PubMed 17554261]
  2. Crohn Disease
    Paul R Burton et al. Nature 2007, Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls., Nature. [PubMed 17554300]
  3. Crohn Disease
    Jeffrey C Barrett et al. Nature genetics 2008, Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease., Nature genetics. [PubMed 18587394]
           more ... click here to view the complete list

-  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: 52.79 RPKM in Testis
Total median expression: 1317.22 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 -47.20120-0.393 Picture PostScript Text
3' UTR -25.60209-0.122 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
IPR019151 - Proteasome_assmbl_chaperone_2
IPR016562 - Proteasome_assmbl_chp_2_euk

Pfam Domains:
PF09754 - PAC2 family

ModBase Predicted Comparative 3D Structure on Q969U7
FrontTopSide
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 orthologGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details  Gene Details  
Gene Sorter  Gene Sorter  
  EnsemblFlyBase  
  Protein SequenceProtein Sequence  
  AlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0007094 mitotic spindle assembly checkpoint
GO:0043066 negative regulation of apoptotic process
GO:0043248 proteasome assembly
GO:0051726 regulation of cell cycle

Cellular Component:
GO:0000502 proteasome complex
GO:0005634 nucleus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AF161378 - Homo sapiens HSPC260 mRNA, partial cds.
AF068295 - Homo sapiens HDCMC29P mRNA, partial cds.
AF276707 - Homo sapiens hepatocellular carcinoma susceptibility protein (HCCA3) mRNA, complete cds.
AK225882 - Homo sapiens mRNA for tumor necrosis factor superfamily, member 5-induced protein 1 variant, clone: FCC123B11.
AF168712 - Homo sapiens x 003 protein mRNA, complete cds.
AK057005 - Homo sapiens cDNA FLJ32443 fis, clone SKMUS2001543, highly similar to Homo sapiens tumor necrosis factor superfamily, member 5-induced protein 1 (TNFSF5IP1), mRNA.
BC013356 - Homo sapiens proteasome (prosome, macropain) assembly chaperone 2, mRNA (cDNA clone MGC:15092 IMAGE:3640209), complete cds.
CU680576 - Synthetic construct Homo sapiens gateway clone IMAGE:100018662 5' read TNFSF5IP1 mRNA.
HQ447389 - Synthetic construct Homo sapiens clone IMAGE:100070710; CCSB006587_03 tumor necrosis factor superfamily, member 5-induced protein 1 (PSMG2) gene, encodes complete protein.
KJ899286 - Synthetic construct Homo sapiens clone ccsbBroadEn_08680 PSMG2 gene, encodes complete protein.
CR457181 - Homo sapiens full open reading frame cDNA clone RZPDo834A118D for gene HCCA3, hepatocellular carcinoma susceptibility protein; complete cds, incl. stopcodon.
JD140173 - Sequence 121197 from Patent EP1572962.
AK025410 - Homo sapiens cDNA: FLJ21757 fis, clone COLF6719.
JD231779 - Sequence 212803 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B0YJB3, HCCA3, NM_020232, NP_671692, PAC2, PSMG2_HUMAN, Q6IAH4, Q969U7, TNFSF5IP1
UCSC ID: uc002krk.3
RefSeq Accession: NM_020232
Protein: Q969U7 (aka PSMG2_HUMAN)
CCDS: CCDS11862.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_020232.4
exon count: 7CDS single in 3' UTR: no RNA size: 1141
ORF size: 795CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1731.00frame shift in genome: no % Coverage: 98.51
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.