Aliases for PWP2 Gene

Aliases for PWP2 Gene

  • PWP2 Small Subunit Processome Component 2 3 5
  • Periodic Tryptophan Protein 2 Homolog 3 4
  • PWP2H 3 4
  • PWP2 Periodic Tryptophan Protein Homolog (Yeast) 2
  • PWP2 Periodic Tryptophan Protein Homolog 3
  • PWP2, Small Subunit Processome Component 2
  • PWP2, UTPB SSU Processome Subunit 3
  • EHOC-17 3
  • UTP1 3

External Ids for PWP2 Gene

Previous HGNC Symbols for PWP2 Gene

  • PWP2H

Previous GeneCards Identifiers for PWP2 Gene

  • GC21P044352
  • GC21P045527
  • GC21P030897

Summaries for PWP2 Gene

GeneCards Summary for PWP2 Gene

PWP2 (PWP2 Small Subunit Processome Component) is a Protein Coding gene. Diseases associated with PWP2 include Autosomal Dominant Non-Syndromic Intellectual Disability 1 and Progressive Myoclonus Epilepsy. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include snoRNA binding. An important paralog of this gene is LOC102724159.

Gene Wiki entry for PWP2 Gene

Additional gene information for PWP2 Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PWP2 Gene

Genomics for PWP2 Gene

GeneHancer (GH) Regulatory Elements for PWP2 Gene

Promoters and enhancers for PWP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PWP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PWP2

Top Transcription factor binding sites by QIAGEN in the PWP2 gene promoter:
  • AML1a
  • ATF-2
  • FOXD3
  • Meis-1
  • Meis-1a
  • Meis-1b
  • Nkx5-1
  • Pax-2
  • Pax-2a

Genomic Locations for PWP2 Gene

Genomic Locations for PWP2 Gene
chr21:44,107,290-44,131,181
(GRCh38/hg38)
Size:
23,892 bases
Orientation:
Plus strand
chr21:45,527,171-45,551,063
(GRCh37/hg19)
Size:
23,893 bases
Orientation:
Plus strand

Genomic View for PWP2 Gene

Genes around PWP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PWP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PWP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PWP2 Gene

Proteins for PWP2 Gene

  • Protein details for PWP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15269-PWP2_HUMAN
    Recommended name:
    Periodic tryptophan protein 2 homolog
    Protein Accession:
    Q15269
    Secondary Accessions:
    • B2RAG8
    • Q96A77

    Protein attributes for PWP2 Gene

    Size:
    919 amino acids
    Molecular mass:
    102452 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PWP2 Gene

Post-translational modifications for PWP2 Gene

  • Ubiquitination at Lys233
  • Modification sites at PhosphoSitePlus

Other Protein References for PWP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PWP2 Gene

Domains & Families for PWP2 Gene

Gene Families for PWP2 Gene

Protein Domains for PWP2 Gene

Blocks:
  • G-protein beta WD-40 repeat signature
  • Periodic tryptophan protein-associated domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PWP2 Gene

GenScript: Design optimal peptide antigens:
  • Periodic tryptophan protein 2 homolog (PWP2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q15269

UniProtKB/Swiss-Prot:

PWP2_HUMAN :
  • Belongs to the WD repeat PWP2 family.
Family:
  • Belongs to the WD repeat PWP2 family.
genes like me logo Genes that share domains with PWP2: view

Function for PWP2 Gene

Phenotypes From GWAS Catalog for PWP2 Gene

Gene Ontology (GO) - Molecular Function for PWP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with PWP2: view
genes like me logo Genes that share phenotypes with PWP2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PWP2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PWP2 Gene

Localization for PWP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PWP2 Gene

Nucleus, nucleolus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PWP2 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 2
cytoskeleton 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PWP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IEA --
GO:0032040 small-subunit processome IBA 21873635
GO:0034388 Pwp2p-containing subcomplex of 90S preribosome IBA 21873635
genes like me logo Genes that share ontologies with PWP2: view

Pathways & Interactions for PWP2 Gene

genes like me logo Genes that share pathways with PWP2: view

Gene Ontology (GO) - Biological Process for PWP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000028 ribosomal small subunit assembly IBA 21873635
GO:0000462 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) IBA 21873635
GO:0006364 rRNA processing TAS --
genes like me logo Genes that share ontologies with PWP2: view

No data available for SIGNOR curated interactions for PWP2 Gene

Drugs & Compounds for PWP2 Gene

No Compound Related Data Available

Transcripts for PWP2 Gene

mRNA/cDNA for PWP2 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PWP2

Alternative Splicing Database (ASD) splice patterns (SP) for PWP2 Gene

No ASD Table

Relevant External Links for PWP2 Gene

GeneLoc Exon Structure for
PWP2

Expression for PWP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PWP2 Gene

Protein differential expression in normal tissues from HIPED for PWP2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.8), Placenta (9.0), and CD8 Tcells (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PWP2 Gene



Protein tissue co-expression partners for PWP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PWP2

SOURCE GeneReport for Unigene cluster for PWP2 Gene:

Hs.449076

Evidence on tissue expression from TISSUES for PWP2 Gene

  • Nervous system(4.9)
  • Muscle(4.1)
  • Lung(2.5)
genes like me logo Genes that share expression patterns with PWP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PWP2 Gene

Orthologs for PWP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PWP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PWP2 31
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pwp2 31
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PWP2 31
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PWP2 31
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PWP2 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PWP2 31
  • 76 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PWP2 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.2843 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.10031 30
zebrafish
(Danio rerio)
Actinopterygii pwp2h 31
  • 65 (a)
OneToOne
Dr.3590 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4361 30
fruit fly
(Drosophila melanogaster)
Insecta CG12325 31
  • 46 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F55F8.3 31
  • 37 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PWP2 33 31
  • 42 (a)
rice
(Oryza sativa)
Liliopsida Os.12402 30
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7123 31
  • 51 (a)
OneToOne
Species where no ortholog for PWP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PWP2 Gene

ENSEMBL:
Gene Tree for PWP2 (if available)
TreeFam:
Gene Tree for PWP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PWP2: view image

Paralogs for PWP2 Gene

Paralogs for PWP2 Gene

(1) SIMAP similar genes for PWP2 Gene using alignment to 2 proteins:

  • PWP2_HUMAN
  • C9J544_HUMAN
genes like me logo Genes that share paralogs with PWP2: view

Variants for PWP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PWP2 Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
rs17856422 - p.Phe551Ile
rs2020945 - p.Asp25Asn
rs35001460 - p.Glu174Lys

Additional dbSNP identifiers (rs#s) for PWP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PWP2 Gene

Variant ID Type Subtype PubMed ID
esv33817 CNV loss 17666407
nsv587721 CNV loss 21841781
nsv587722 CNV loss 21841781
nsv953644 CNV deletion 24416366

Variation tolerance for PWP2 Gene

Residual Variation Intolerance Score: 90.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.08; 60.87% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PWP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PWP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PWP2 Gene

Disorders for PWP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PWP2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autosomal dominant non-syndromic intellectual disability 1
  • mrd1
progressive myoclonus epilepsy
  • progressive myoclonic epilepsy
autosomal dominant non-syndromic intellectual disability
  • autosomal dominant mental retardation
- elite association - COSMIC cancer census association via MalaCards
Search PWP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PWP2

genes like me logo Genes that share disorders with PWP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PWP2 Gene

Publications for PWP2 Gene

  1. A periodic tryptophan protein 2 gene homologue (PWP2H) in the candidate region of progressive myoclonus epilepsy on 21q22.3. (PMID: 8893822) Yamakawa K … Korenberg JR (Cytogenetics and cell genetics 1996) 2 3 4 23 54
  2. Genomic organization and complete nucleotide sequence of the human PWP2 gene on chromosome 21. (PMID: 9205129) Nagamine K … Shimizu N (Genomics 1997) 3 4 23 54
  3. Isolation and genomic structure of a human homolog of the yeast periodic tryptophan protein 2 (PWP2) gene mapping to 21q22.3. (PMID: 8973917) Lafrenière RG … Rouleau GA (Genome research 1996) 3 4 23 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Functional proteomic analysis of human nucleolus. (PMID: 12429849) Scherl A … Diaz JJ (Molecular biology of the cell 2002) 3 4 54

Products for PWP2 Gene

Sources for PWP2 Gene