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The protein encoded by this gene appears to be a zinc finger protein containing a transposase domain at the C-terminus. This protein was found to interact with the transcription factor SP1 in a yeast two-hybrid system. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Aug 2010]
POGZ (Pogo Transposable Element Derived With ZNF Domain) is a Protein Coding gene. Diseases associated with POGZ include White-Sutton Syndrome and Isolated Brachycephaly. Gene Ontology (GO) annotations related to this gene include nucleic acid binding. An important paralog of this gene is TIGD2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 10976766 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA | 20562864 |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005694 | chromosome | IEA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 20562864 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007049 | cell cycle | IEA | -- |
GO:0007064 | mitotic sister chromatid cohesion | IMP | 20562864 |
GO:0010468 | regulation of gene expression | IBA | 21873635 |
GO:0051301 | cell division | IEA | -- |
GO:0051382 | kinetochore assembly | IMP | 20562864 |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | · | 6c | ^ | 7a | · | 7b | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9a | · | 9b | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 14 | ^ | 15 | ^ | 16a | · | 16b | ^ | 17a | · | 17b | ^ | 18a | · | 18b | ^ | 19 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | ||||||||||||||||
SP2: | - | ||||||||||||||||
SP3: | - | ||||||||||||||||
SP4: | |||||||||||||||||
SP5: | - | ||||||||||||||||
SP6: | |||||||||||||||||
SP7: | |||||||||||||||||
SP8: | |||||||||||||||||
SP9: | |||||||||||||||||
SP10: | |||||||||||||||||
SP11: | |||||||||||||||||
SP12: | |||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POGZ 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POGZ 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pogz 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pogz 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | POGZ 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | POGZ 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | POGZ 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | POGZ 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | POGZ 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100158529 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.30774 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC561483 30 |
|
||
pogza 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | row 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F37D6.2 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
631528 | Likely Pathogenic: Obesity | 151,405,397(-) | C/T | NONSENSE | |
666302 | Likely Pathogenic: White-sutton syndrome | 151,406,909(-) | AC/A | SPLICE_DONOR_VARIANT | |
666305 | Likely Pathogenic: White-sutton syndrome | 151,406,198(-) | TC/T | FRAMESHIFT_VARIANT | |
666553 | Likely Pathogenic: White-sutton syndrome | 151,423,554(-) | G/C | INTRON_VARIANT | |
708512 | Likely Benign: not provided | 151,407,005(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv36n27 | CNV | gain | 19166990 |
dgv53e214 | CNV | gain | 21293372 |
dgv564n54 | CNV | gain | 21841781 |
esv2674265 | CNV | deletion | 23128226 |
esv2717862 | CNV | deletion | 23290073 |
esv2758969 | CNV | gain | 17122850 |
esv34461 | CNV | gain | 17911159 |
esv3587525 | CNV | gain | 21293372 |
esv3587526 | CNV | loss | 21293372 |
esv3587528 | CNV | loss | 21293372 |
esv3587529 | CNV | loss | 21293372 |
esv3890638 | CNV | gain | 25118596 |
esv3894200 | CNV | gain | 25118596 |
nsv1078957 | CNV | deletion | 25765185 |
nsv1121782 | CNV | deletion | 24896259 |
nsv1161560 | CNV | duplication | 26073780 |
nsv2832 | CNV | insertion | 18451855 |
nsv441714 | CNV | gain | 18776908 |
nsv470737 | CNV | gain | 18288195 |
nsv478069 | CNV | novel sequence insertion | 20440878 |
nsv818467 | CNV | gain | 17921354 |
nsv824575 | CNV | gain | 20364138 |
nsv824587 | CNV | loss | 20364138 |
nsv831581 | CNV | loss | 17160897 |
nsv8380 | CNV | gain | 18304495 |
nsv952165 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
white-sutton syndrome |
|
|
isolated brachycephaly |
|
|
nail disease |
|
|
strabismus |
|
|
sensorineural hearing loss |
|
|