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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
    		Compare labs

    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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