Free for academic non-profit institutions. Other users need a Commercial license
DDX52 (DExD-Box Helicase 52) is a Protein Coding gene. Diseases associated with DDX52 include Chromosome 17Q12 Deletion Syndrome and Robinow Syndrome, Autosomal Dominant 1. Among its related pathways are rRNA processing in the nucleus and cytosol and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and hydrolase activity. An important paralog of this gene is DDX46.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000166 | nucleotide binding | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003723 | RNA binding | IBA,HDA | 22658674 |
GO:0003724 | RNA helicase activity | IBA | -- |
GO:0004386 | helicase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005730 | nucleolus | IEA | -- |
GO:0016020 | membrane | HDA | 19946888 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | rRNA processing in the nucleus and cytosol |
.89
|
|
2 | Gene Expression |
.48
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006364 | rRNA processing | TAS | -- |
GO:0030490 | maturation of SSU-rRNA | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
ADP |
|
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist | 58-64-0 |
|
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DDX52 30 |
|
||
Dog (Canis familiaris) |
Mammalia | DDX52 30 |
|
||
Cow (Bos Taurus) |
Mammalia | DDX52 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Ddx52 30 17 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Ddx52 30 |
|
||
Chicken (Gallus gallus) |
Aves | DDX52 30 |
|
||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ddx52 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5589 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP012358 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | R05D11.4 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ROK1 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0C17424g 30 |
|
||
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL024C 30 |
|
||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT3G09720 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os07g0647900 30 |
|
||
Os.11258 30 |
|
||||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | rok1 30 |
|
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs7216445 | - | p.Met403Val |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3640494 | CNV | gain | 21293372 |
esv3640501 | CNV | gain | 21293372 |
nsv833431 | CNV | gain | 17160897 |
nsv953887 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
chromosome 17q12 deletion syndrome |
|
|
robinow syndrome, autosomal dominant 1 |
|
|
robinow syndrome |
|
|
autosomal dominant non-syndromic intellectual disability |
|
|