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    PFDN2 prefoldin subunit 2 [ Homo sapiens (human) ]

    Gene ID: 5202, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PFDN2provided by HGNC
    Official Full Name
    prefoldin subunit 2provided by HGNC
    Primary source
    HGNC:HGNC:8867
    See related
    Ensembl:ENSG00000143256 MIM:613466; AllianceGenome:HGNC:8867
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PFD2
    Summary
    This gene encodes a member of the prefoldin beta subunit family. The encoded protein is one of six subunits of prefoldin, a molecular chaperone complex that binds and stabilizes newly synthesized polypeptides, thereby allowing them to fold correctly. The complex, consisting of two alpha and four beta subunits, forms a double beta barrel assembly with six protruding coiled-coils. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in fat (RPKM 33.7), brain (RPKM 30.3) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PFDN2 in Genome Data Viewer
    Location:
    1q23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (161100561..161118037, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (160238042..160255506, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (161070351..161087827, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene nectin cell adhesion molecule 4 Neighboring gene NECTIN4 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1466 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1467 Neighboring gene kelch domain containing 9 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1976 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:161087283-161088263 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:161093620-161094120 Neighboring gene nitrilase 1 Neighboring gene death effector domain containing Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:161101327-161102150 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1469 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1977 Neighboring gene linc-UFC1

    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
    • 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. Identification of prefoldin amplification (1q23.3-q24.1) in bladder cancer using comparative genomic hybridization (CGH) arrays of urinary DNA. López V, et al. J Transl Med, 2013 Aug 1. PMID 23914742, Free PMC Article
    2. Prefoldin protects neuronal cells from polyglutamine toxicity by preventing aggregation formation. Tashiro E, et al. J Biol Chem, 2013 Jul 5. PMID 23720755, Free PMC Article
    3. Interaction of hepatitis C virus F protein with prefoldin 2 perturbs tubulin cytoskeleton organization. Tsao ML, et al. Biochem Biophys Res Commun, 2006 Sep 15. PMID 16876117
    4. Prefoldin-nascent chain complexes in the folding of cytoskeletal proteins. Hansen WJ, et al. J Cell Biol, 1999 Apr 19. PMID 10209023, Free PMC Article
    5. A chaperone with a hydrophilic surface. Cowan NJ, et al. Nat Struct Biol, 1999 Nov. PMID 10542082

    See all (129) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. prefoldin is amplified at 1q23.3-q24.1 in bladder cancer
      Title: Identification of prefoldin amplification (1q23.3-q24.1) in bladder cancer using comparative genomic hybridization (CGH) arrays of urinary DNA.
    2. knockdown of PFD2 and PFD5 disrupted prefoldin formation in HTT-expressing cells, resulting in accumulation of aggregates of a pathogenic form of HTT and in induction of cell death.
      Title: Prefoldin protects neuronal cells from polyglutamine toxicity by preventing aggregation formation.
    3. Is part of an RNA polymerase II-associated complex with possible chaperone activity.
      Title: High-resolution mapping of the protein interaction network for the human transcription machinery and affinity purification of RNA polymerase II-associated complexes.
    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables amyloid-beta binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein folding chaperone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein folding chaperone IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables unfolded protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables unfolded protein binding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chaperone-mediated protein folding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in negative regulation of amyloid fibril formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cytoskeleton organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein folding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein folding NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in protein stabilization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RPAP3/R2TP/prefoldin-like complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of prefoldin complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of prefoldin complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of protein folding chaperone complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    prefoldin subunit 2
    Names
    prefoldin 2

    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_012394.4 → NP_036526.2  prefoldin subunit 2

      See identical proteins and their annotated locations for NP_036526.2

      Status: REVIEWED

      Source sequence(s)
      AF165883, BC012464
      Consensus CDS
      CCDS1217.1
      UniProtKB/Swiss-Prot
      Q9P0P7, Q9UHV9, Q9UN05
      UniProtKB/TrEMBL
      B1AQP2
      Related
      ENSP00000356989.3, ENST00000368010.4
      Conserved Domains (1) summary
      pfam01920
      Location:27 → 128
      Prefoldin_2; Prefoldin subunit

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      161100561..161118037 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011509624.4 → XP_011507926.1  prefoldin subunit 2 isoform X1

      See identical proteins and their annotated locations for XP_011507926.1

      UniProtKB/Swiss-Prot
      Q9UHV9
      Conserved Domains (1) summary
      pfam01920
      Location:1 → 80
      Prefoldin_2; Prefoldin subunit

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      160238042..160255506 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054337022.1 → XP_054192997.1  prefoldin subunit 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9UHV9.1 GenPept UniProtKB/Swiss-Prot:Q9UHV9

    Gene LinkOut

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

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