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DTX2 functions as an E3 ubiquitin ligase (Takeyama et al., 2003 [PubMed 12670957]).[supplied by OMIM, Nov 2009]
DTX2 (Deltex E3 Ubiquitin Ligase 2) is a Protein Coding gene. Diseases associated with DTX2 include Ependymoblastoma and Pthirus Pubis Infestation. Among its related pathways are Signaling by GPCR and NOTCH2 Activation and Transmission of Signal to the Nucleus. Gene Ontology (GO) annotations related to this gene include ligase activity. An important paralog of this gene is DTX1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH07J076461 | Promoter/Enhancer | 0.9 | EPDnew Ensembl dbSUPER | 600.7 | +0.8 | 846 | 2.6 | GABPB1 | DTX2 lnc-ZP3-4 FDPSP2 UPK3B RF00017-6397 | |
GH07J076462 | Promoter | 0.3 | Ensembl | 600.7 | -1.2 | -1154 | 0.2 | DTX2 lnc-ZP3-4 piR-61288-018 SSC4D RF00017-6397 | ||
GH07J076459 | Enhancer | 0.2 | dbSUPER | 600.7 | -1.8 | -1772 | 0.9 | DTX2 lnc-ZP3-4 piR-61288-018 SSC4D RF00017-6397 | ||
GH07J076281 | Promoter/Enhancer | 1.6 | EPDnew Ensembl dbSUPER | 14.3 | -179.2 | -179155 | 2.6 | RNF2 ARHGAP35 ZNF512 IKZF1 KDM1A ZNF300 DDX20 PRDM1 MTA2 PHF21A | SRRM3 STAG3L1 PMS2P3 FAM185BP SPDYE18 NSUN5P1 ENSG00000225726 ENSG00000205485 DTX2P1 SPDYE5 | |
GH07J076290 | Promoter/Enhancer | 2 | FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER | 10.2 | -167.1 | -167100 | 8.9 | ARHGAP35 CEBPG HNRNPL CREB1 GATAD2A CTCF TEAD4 PRDM10 ZNF629 LEF1 | STAG3L1 PMS2P3 FAM185BP POMZP3 PMS2P9 NSUN5P1 DTX2P1 SRRM3 DTX2 SPDYE18 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 16189514 |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0016740 | transferase activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO:0061630 | ubiquitin protein ligase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | IBA,IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0031965 | nuclear membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) | ||
2 | Signaling by NOTCH1 | ||
3 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
4 | Signaling by GPCR |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007219 | Notch signaling pathway | IEA,IBA | 21873635 |
GO:0016567 | protein ubiquitination | IEA | -- |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c | ^ | 6 | ^ | 7a | · | 7b | · | 7c | · | 7d | · | 7e | ^ | 8a | · | 8b | · | 8c | ^ | 9a | · | 9b | ^ | 10a | · |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP17: |
ExUns: | 10b | ^ | 11 | ^ | 12a | · | 12b | ^ | 13 | ^ | 14 | ^ | 15 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||
SP2: | |||||||||||||
SP3: | |||||||||||||
SP4: | |||||||||||||
SP5: | - | ||||||||||||
SP6: | |||||||||||||
SP7: | |||||||||||||
SP8: | |||||||||||||
SP9: | |||||||||||||
SP10: | |||||||||||||
SP11: | |||||||||||||
SP12: | |||||||||||||
SP13: | |||||||||||||
SP14: | |||||||||||||
SP15: | |||||||||||||
SP16: | |||||||||||||
SP17: | - |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DTX2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DTX2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DTX2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dtx2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dtx2 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DTX2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DTX2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | DTX2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DTX2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dtx2 30 |
|
||
Str.4864 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC53737 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dtx2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | dx 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7641 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 07 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
734656 | Benign: not provided | 76,503,421(+) | G/C | INTRON_VARIANT | |
768164 | Likely Benign: not provided | 76,502,333(+) | G/A | SYNONYMOUS_VARIANT | |
768165 | Likely Benign: not provided | 76,503,581(+) | T/C | SYNONYMOUS_VARIANT | |
776233 | Benign: not provided | 76,503,488(+) | C/G | SYNONYMOUS_VARIANT | |
rs1638152 | - | p.Gly384Glu |
Disorder | Aliases | PubMed IDs |
---|---|---|
ependymoblastoma |
|
|
pthirus pubis infestation |
|
|
lice infestation |
|
|