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PWP2 (PWP2 small subunit processome component)

Identity

Alias (NCBI)EHOC-17
PWP2H
UTP1
HGNC (Hugo) PWP2
HGNC Alias symbEHOC-17
UTP1
HGNC Previous namePWP2H
HGNC Previous namePWP2 (periodic tryptophan protein, yeast) homolog
LocusID (NCBI) 5822
Atlas_Id 72414
Location 21q22.3  [Link to chromosome band 21q22]
Location_base_pair Starts at 44107399 and ends at 44131181 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PWP2 (21q22.3) / IFT140 (16p13.3)PWP2 (21q22.3) / SFSWAP (12q24.33)TCF3 (19p13.3) / PWP2 (21q22.3)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)PWP2   9711
Cards
Entrez_Gene (NCBI)PWP2    PWP2 small subunit processome component
AliasesEHOC-17; PWP2H; UTP1
GeneCards (Weizmann)PWP2
Ensembl hg19 (Hinxton)ENSG00000241945 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000241945 [Gene_View]  ENSG00000241945 [Sequence]  chr21:44107399-44131181 [Contig_View]  PWP2 [Vega]
ICGC DataPortalENSG00000241945
TCGA cBioPortalPWP2
AceView (NCBI)PWP2
Genatlas (Paris)PWP2
SOURCE (Princeton)PWP2
Genetics Home Reference (NIH)PWP2
Genomic and cartography
GoldenPath hg38 (UCSC)PWP2  -     chr21:44107399-44131181 +  21q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PWP2  -     21q22.3   [Description]    (hg19-Feb_2009)
GoldenPathPWP2 - 21q22.3 [CytoView hg19]  PWP2 - 21q22.3 [CytoView hg38]
ImmunoBaseENSG00000241945
Genome Data Viewer NCBIPWP2 [Mapview hg19]  
OMIM601475   
Gene and transcription
Genbank (Entrez)AI968015 BM457858 BM835826 BU683943 BX387451
RefSeq transcript (Entrez)NM_005049
Consensus coding sequences : CCDS (NCBI)PWP2
Gene ExpressionPWP2 [ NCBI-GEO ]   PWP2 [ EBI - ARRAY_EXPRESS ]   PWP2 [ SEEK ]   PWP2 [ MEM ]
Gene Expression Viewer (FireBrowse)PWP2 [ Firebrowse - Broad ]
GenevisibleExpression of PWP2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5822
GTEX Portal (Tissue expression)PWP2
Human Protein AtlasENSG00000241945-PWP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15269   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15269  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15269
PhosPhoSitePlusQ15269
Domaine pattern : Prosite (Expaxy)WD_REPEATS_1 (PS00678)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)G-protein_beta_WD-40_rep    PWP2    Quinoprotein_ADH-like_supfam    SSU_processome_Utp12    WD40/YVTN_repeat-like_dom_sf    WD40_repeat    WD40_repeat_CS    WD40_repeat_dom   
Domain families : Pfam (Sanger)Utp12 (PF04003)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam04003    pfam00400   
Domain families : Smart (EMBL)WD40 (SM00320)  
Conserved Domain (NCBI)PWP2
SuperfamilyQ15269
AlphaFold pdb e-kbQ15269   
Human Protein Atlas [tissue]ENSG00000241945-PWP2 [tissue]
HPRD03279
Protein Interaction databases
DIP (DOE-UCLA)Q15269
IntAct (EBI)Q15269
BioGRIDPWP2
STRING (EMBL)PWP2
ZODIACPWP2
Ontologies - Pathways
QuickGOQ15269
Ontology : AmiGOribosomal small subunit assembly  maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  RNA binding  nucleoplasm  rRNA processing  small-subunit processome  Pwp2p-containing subcomplex of 90S preribosome  
Ontology : EGO-EBIribosomal small subunit assembly  maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)  RNA binding  nucleoplasm  rRNA processing  small-subunit processome  Pwp2p-containing subcomplex of 90S preribosome  
NDEx NetworkPWP2
Atlas of Cancer Signalling NetworkPWP2
Wikipedia pathwaysPWP2
Orthology - Evolution
OrthoDB5822
GeneTree (enSembl)ENSG00000241945
Phylogenetic Trees/Animal Genes : TreeFamPWP2
Homologs : HomoloGenePWP2
Homology/Alignments : Family Browser (UCSC)PWP2
Gene fusions - Rearrangements
Fusion : QuiverPWP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPWP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PWP2
dbVarPWP2
ClinVarPWP2
MonarchPWP2
1000_GenomesPWP2 
Exome Variant ServerPWP2
GNOMAD BrowserENSG00000241945
Varsome BrowserPWP2
ACMGPWP2 variants
VarityQ15269
Genomic Variants (DGV)PWP2 [DGVbeta]
DECIPHERPWP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPWP2 
Mutations
ICGC Data PortalPWP2 
TCGA Data PortalPWP2 
Broad Tumor PortalPWP2
OASIS PortalPWP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPWP2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPWP2
Mutations and Diseases : HGMDPWP2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPWP2
DgiDB (Drug Gene Interaction Database)PWP2
DoCM (Curated mutations)PWP2
CIViC (Clinical Interpretations of Variants in Cancer)PWP2
Cancer3DPWP2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601475   
Orphanet
DisGeNETPWP2
MedgenPWP2
Genetic Testing Registry PWP2
NextProtQ15269 [Medical]
GENETestsPWP2
Target ValidationPWP2
Huge Navigator PWP2 [HugePedia]
ClinGenPWP2
Clinical trials, drugs, therapy
MyCancerGenomePWP2
Protein Interactions : CTDPWP2
Pharm GKB GenePA162400451
PharosQ15269
Clinical trialPWP2
Miscellaneous
canSAR (ICR)PWP2
HarmonizomePWP2
DataMed IndexPWP2
Probes
Litterature
PubMed59 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPWP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:17:42 CEST 2021

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