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

Gene ID: 5822, updated on 27-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
  • 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)

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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