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    PWP2 PWP2 small subunit processome component [ Homo sapiens (human) ]

    Gene ID: 5822, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PWP2provided by HGNC
    Official Full Name
    PWP2 small subunit processome componentprovided by HGNC
    Primary source
    HGNC:HGNC:9711
    See related
    Ensembl:ENSG00000241945 MIM:601475; AllianceGenome:HGNC:9711
    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
    UTP1; PWP2H; EHOC-17
    Summary
    Enables RNA binding activity. Involved in ribosomal small subunit biogenesis. Part of small-subunit processome. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.5), spleen (RPKM 6.3) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See PWP2 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (44107399..44131181)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (42463009..42486796)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45527280..45551063)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372829 Neighboring gene RNA, U6 small nuclear 1150, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13376 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18560 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18561 Neighboring gene trafficking protein particle complex subunit 10 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45452244-45452456 Neighboring gene H2A.Z histone pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18562 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45487136-45487678 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45526826-45527342 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45530994-45531196 Neighboring gene Sharpr-MPRA regulatory region 9823 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45553065-45553592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:45553593-45554120 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:45554121-45554648 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13210 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:45561103-45561261 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:45566085-45566744 Neighboring gene glutamine amidotransferase class 1 domain containing 3 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18265 Neighboring gene long intergenic non-protein coding RNA 1678

    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. Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3. Lalioti MD, et al. Genomics, 1996 Jul 15. PMID 8661145
    2. A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3. Yamakawa K, et al. Cytogenet Cell Genet, 1996. PMID 8893822
    3. Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3. Lafrenière RG, et al. Genome Res, 1996 Dec. PMID 8973917
    4. Genomic organization and complete nucleotide sequence of the TMEM1 gene on human chromosome 21q22.3. Nagamine K, et al. Biochem Biophys Res Commun, 1997 Jun 9. PMID 9196060
    5. Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21. Nagamine K, et al. Genomics, 1997 Jun 15. PMID 9205129

    See all (90) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Genotypes

    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 RNA binding HDA PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal small subunit assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in ribosomal small subunit biogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Pwp2p-containing subcomplex of 90S preribosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of small-subunit processome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of small-subunit processome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    periodic tryptophan protein 2 homolog
    Names
    PWP2 periodic tryptophan protein homolog
    PWP2, UTPB SSU processome subunit

    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_005049.3 → NP_005040.2  periodic tryptophan protein 2 homolog

      See identical proteins and their annotated locations for NP_005040.2

      Status: VALIDATED

      Source sequence(s)
      AB001517, KF510567
      Consensus CDS
      CCDS33579.1
      UniProtKB/Swiss-Prot
      B2RAG8, Q15269, Q96A77
      Related
      ENSP00000291576.6, ENST00000291576.12
      Conserved Domains (5) summary
      COG2319
      Location:33 → 574
      WD40; WD40 repeat [General function prediction only]
      cd00200
      Location:322 → 629
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
      pfam04003
      Location:771 → 872
      Utp12; Dip2/Utp12 Family
      sd00039
      Location:333 → 371
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:96 → 443
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      44107399..44131181
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      42463009..42486796
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q15269.2 GenPept UniProtKB/Swiss-Prot:Q15269

    Gene LinkOut

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