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    PNRC2 proline rich nuclear receptor coactivator 2 [ Homo sapiens (human) ]

    Gene ID: 55629, updated on 27-Nov-2024

    Summary

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    Official Symbol
    PNRC2provided by HGNC
    Official Full Name
    proline rich nuclear receptor coactivator 2provided by HGNC
    Primary source
    HGNC:HGNC:23158
    See related
    Ensembl:ENSG00000189266 MIM:611882; AllianceGenome:HGNC:23158
    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
    Summary
    Involved in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Located in Golgi apparatus; P-body; and nucleoplasm. [provided by Alliance of Genome Resources, Nov 2024]
    Annotation information
    Note: GeneID 100132235 was merged into this record because the clone on which it was annotated, BX511012.5, was determined to be redundent. [27 May 2009]
    Expression
    Ubiquitous expression in thyroid (RPKM 68.8), lymph node (RPKM 67.1) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PNRC2 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (23959164..23963462)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (23797250..23800884)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24286318..24289952)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene microRNA 378f Neighboring gene uncharacterized LOC124903877 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:24275932-24276152 Neighboring gene H3 histone pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:24284548-24285176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 385 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 429 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 386 Neighboring gene serine and arginine rich splicing factor 10 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:24306044-24307034 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:24307035-24308025 Neighboring gene uncharacterized LOC105378615

    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. PNRC: a proline-rich nuclear receptor coregulatory protein that modulates transcriptional activation of multiple nuclear receptors including orphan receptors SF1 (steroidogenic factor 1) and ERRalpha1 (estrogen related receptor alpha-1). Zhou D, et al. Mol Endocrinol, 2000 Jul. PMID 10894149
    2. Dissecting the functions of SMG5, SMG7, and PNRC2 in nonsense-mediated mRNA decay of human cells. Nicholson P, et al. RNA, 2018 Apr. PMID 29348139, Free PMC Article
    3. Structural basis of mRNA-cap recognition by Dcp1-Dcp2. Mugridge JS, et al. Nat Struct Mol Biol, 2016 Nov. PMID 27694842, Free PMC Article
    4. Structural basis of the PNRC2-mediated link between mrna surveillance and decapping. Lai T, et al. Structure, 2012 Dec 5. PMID 23085078
    5. Glucocorticoid receptor interacts with PNRC2 in a ligand-dependent manner to recruit UPF1 for rapid mRNA degradation. Cho H, et al. Proc Natl Acad Sci U S A, 2015 Mar 31. PMID 25775514, Free PMC Article

    See all (29) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. UPF1 interacts with PNRC2 and that it triggers 5'-3' exonucleolytic decay of reporter transcripts in tethering assays. PNRC2 is probably an important mRNA decapping factor but that it does not appear to be required for nonsense-mediated mRNA decay.
      Title: Dissecting the functions of SMG5, SMG7, and PNRC2 in nonsense-mediated mRNA decay of human cells.
    2. GR and PNRC2 interact in a ligand-dependent manner to recruit UPF1 for rapid mRNA degradation
      Title: Glucocorticoid receptor interacts with PNRC2 in a ligand-dependent manner to recruit UPF1 for rapid mRNA degradation.
    3. PNRC2 acts in synergy with Dcp1a to stimulate the decapping activity of Dcp2 by bridging the interaction between Dcp1a and Dcp2.
      Title: Structural basis of the PNRC2-mediated link between mrna surveillance and decapping.
    4. PNRC2 plays an essential role in mammalian Nonsense-mediated mRNA decay (NMD), mediating the interaction between the NMD machinery and the decapping complex.
      Title: Human proline-rich nuclear receptor coregulatory protein 2 mediates an interaction between mRNA surveillance machinery and decapping complex.
    5. Not only PNRC2 but also the corepressor TLE1 functioned as ERRgamma coactivator in a reporter gene analysis.
      Title: Identification of PNRC2 and TLE1 as activation function-1 cofactors of the orphan nuclear receptor ERRgamma.
    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

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    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

    Clone Names

    • FLJ20312, MGC99541

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in deadenylation-independent decapping of nuclear-transcribed mRNA TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in P-body IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in P-body IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    proline-rich nuclear receptor coactivator 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_017761.4 → NP_060231.1  proline-rich nuclear receptor coactivator 2

      See identical proteins and their annotated locations for NP_060231.1

      Status: VALIDATED

      Source sequence(s)
      AK311305, BC001959, BC078177, DA043474
      Consensus CDS
      CCDS246.1
      UniProtKB/Swiss-Prot
      B4DU72, Q9NPJ4
      Related
      ENSP00000334840.7, ENST00000334351.8
      Conserved Domains (1) summary
      pfam15365
      Location:91 → 137
      PNRC; Proline-rich nuclear receptor coactivator

    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
      23959164..23963462
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017001691.1 → XP_016857180.1  proline-rich nuclear receptor coactivator 2 isoform X1

      UniProtKB/Swiss-Prot
      B4DU72, Q9NPJ4
      Related
      ENSP00000497590.1, ENST00000647887.1
      Conserved Domains (1) summary
      pfam15365
      Location:91 → 137
      PNRC; Proline-rich nuclear receptor coactivator

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      23797250..23800884
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NPJ4.1 GenPept UniProtKB/Swiss-Prot:Q9NPJ4

    Gene LinkOut

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

    Chemical Information
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