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PSMG2 proteasome assembly chaperone 2 [ Homo sapiens (human) ]

Gene ID: 56984, updated on 2-Nov-2024

Summary

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Official Symbol
PSMG2provided by HGNC
Official Full Name
proteasome assembly chaperone 2provided by HGNC
Primary source
HGNC:HGNC:24929
See related
Ensembl:ENSG00000128789 MIM:609702; AllianceGenome:HGNC:24929
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PAC2; HCCA3; CLAST3; MDS003; PRAAS4; HsT1707; TNFSF5IP1
Summary
Enables molecular adaptor activity. Involved in chaperone-mediated protein complex assembly. Located in nucleus. Part of protein folding chaperone complex. Implicated in proteosome-associated autoinflammatory syndrome 4. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in testis (RPKM 46.4), bone marrow (RPKM 28.3) and 25 other tissues See more
Orthologs
mouse all
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Genomic context

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See PSMG2 in Genome Data Viewer
Location:
18p11.21
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (12658738..12725740)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (12821722..12888739)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (12658737..12725739)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12465167-12465325 Neighboring gene high mobility group box 3 pseudogene 28 Neighboring gene spire type actin nucleation factor 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12494438-12494637 Neighboring gene MPRA-validated peak3058 silencer Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9314 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:12647566-12648390 Neighboring gene NANOG hESC enhancer GRCh37_chr18:12651568-12652151 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12658125-12658293 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9315 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9317 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9318 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:12701867-12702764 Neighboring gene centrosomal protein 76 Neighboring gene NANOG hESC enhancer GRCh37_chr18:12722786-12723287 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12734331-12734497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13105 Neighboring gene long intergenic non-protein coding RNA 1882 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12766527-12767028 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:12767029-12767528 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13106 Neighboring gene protein tyrosine phosphatase non-receptor type 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13107 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13108 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13109 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12843102-12843610 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13110 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12860375-12861038 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12873719-12874330 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:12875558-12876170 Neighboring gene ReSE screen-validated silencer GRCh37_chr18:12878042-12878251 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13111 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9319 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9320

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Expression of liver cancer associated gene HCCA3. Wang ZX, et al. World J Gastroenterol, 2001 Dec. PMID 11854909, Free PMC Article
  2. iRhom1 regulates proteasome activity via PAC1/2 under ER stress. Lee W, et al. Sci Rep, 2015 Jun 25. PMID 26109405, Free PMC Article
  3. Growth retardation, polyploidy, and multinucleation induced by Clast3, a novel cell cycle-regulated protein. Bahar R, et al. J Biol Chem, 2002 Oct 18. PMID 12147697
  4. Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. Todd JA, et al. Nat Genet, 2007 Jul. PMID 17554260, Free PMC Article
  5. Cooperation of multiple chaperones required for the assembly of mammalian 20S proteasomes. Hirano Y, et al. Mol Cell, 2006 Dec 28. PMID 17189198

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus.
  2. two chaperones, designated proteasome assembling chaperone-1 (PAC1) and PAC2, form a heterodimer and are involved in the maturation of mammalian 20S proteasomes
    Title: A heterodimeric complex that promotes the assembly of mammalian 20S proteasomes.
  3. A novel full-length cDNA was cloned and differentiated, which was highly expressed in liver cancer tissues. (HCCA3)
    Title: Expression of liver cancer associated gene HCCA3.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Proteasome-associated autoinflammatory syndrome 4
MedGen: C5543053 OMIM: 619183 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC15092

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular adaptor activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in chaperone-mediated protein complex assembly IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chaperone-mediated protein complex assembly IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in mitotic spindle assembly checkpoint signaling IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
  
involved_in proteasome assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
is_active_in cytosol IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus HDA PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of protein folding chaperone complex IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
proteasome assembly chaperone 2
Names
CD40 ligand-activated specific transcript 3
HDCMC29P
HSPC260
PAC-2
hepatocellular carcinoma susceptibility protein
hepatocellular carcinoma-susceptibility protein 3
likely ortholog of mouse CD40 ligand-activated specific transcript 3 (Clast3)
proteasome (prosome, macropain) assembly chaperone 2
proteasome assembling chaperone 2
tumor necrosis factor superfamily member 5-induced protein 1
x 003 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_020232.5 → NP_064617.2  proteasome assembly chaperone 2 isoform 1

    See identical proteins and their annotated locations for NP_064617.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AK057005, BC013356, BF668035
    Consensus CDS
    CCDS11862.1
    UniProtKB/Swiss-Prot
    B0YJB3, Q6IAH4, Q969U7, Q9NRV1, V9GYH7
    UniProtKB/TrEMBL
    A0A8V8TNA9
    Related
    ENSP00000325919.6, ENST00000317615.11
    Conserved Domains (1) summary
    pfam09754
    Location:17 → 123
    PAC2; PAC2 family

  2. NM_147163.2 → NP_671692.1  proteasome assembly chaperone 2 isoform 2

    See identical proteins and their annotated locations for NP_671692.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AF068295, AK057005, AP005482, BC013356
    Consensus CDS
    CCDS67440.1
    UniProtKB/TrEMBL
    Q9P1R6
    Related
    ENSP00000476763.1, ENST00000585331.6
    Conserved Domains (1) summary
    pfam09754
    Location:2 → 95
    PAC2; PAC2 family

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    12658738..12725740
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    12821722..12888739
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q969U7.1 GenPept UniProtKB/Swiss-Prot:Q969U7

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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