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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.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003723 | RNA binding | HDA | 22658674 |
GO:0005515 | protein binding | IEA | -- |
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 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | rRNA processing in the nucleus and cytosol |
.89
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2 | Ribosome biogenesis in eukaryotes | ||
3 | Gene Expression |
.48
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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 | -- |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Mouse (Mus musculus) |
Mammalia | Pwp2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PWP2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PWP2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PWP2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PWP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PWP2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PWP2 31 |
|
OneToOne | |
African clawed frog (Xenopus laevis) |
Amphibia | Xl.10031 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.2843 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pwp2h 31 |
|
OneToOne | |
Dr.3590 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.4361 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG12325 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | F55F8.3 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PWP2 31 33 |
|
OneToOne | |
Rice (Oryza sativa) |
Liliopsida | Os.12402 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7123 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 21 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs17856422 | - | p.Phe551Ile | |||
rs2020945 | - | p.Asp25Asn | |||
rs35001460 | - | p.Glu174Lys |
Disorder | Aliases | PubMed IDs |
---|---|---|
autosomal dominant non-syndromic intellectual disability 1 |
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progressive myoclonus epilepsy |
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autosomal dominant non-syndromic intellectual disability |
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