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The protein encoded by this gene is a highly conserved zinc finger protein. The encoded protein is most abundant in brain, where it negatively regulates neuronal differentiation. [provided by RefSeq, Sep 2015]
ZNF536 (Zinc Finger Protein 536) is a Protein Coding gene. Diseases associated with ZNF536 include Myopia. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and proximal promoter DNA-binding transcription repressor activity, RNA polymerase II-specific. An important paralog of this gene is ZNF516.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 19398580 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 19398580 |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0044323 | retinoic acid-responsive element binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 19398580 |
GO:0006355 | regulation of transcription, DNA-templated | IBA | 21873635 |
GO:0045665 | negative regulation of neuron differentiation | IEA | -- |
GO:0048387 | negative regulation of retinoic acid receptor signaling pathway | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZNF536 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZNF536 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZNF536 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zfp536 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Zfp536 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ZNF536 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ZNF536 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ZNF536 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZNF536 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | znf536 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | znf536 30 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.3642 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708625 | Benign: not provided | 30,534,840(+) | G/A | INTRON_VARIANT | |
713235 | Benign: not provided | 30,534,938(+) | G/A | SYNONYMOUS_VARIANT | |
715983 | Benign: not provided | 30,548,583(+) | G/A | SYNONYMOUS_VARIANT | |
720598 | Benign: not provided | 30,445,647(+) | C/T | SYNONYMOUS_VARIANT | |
729474 | Likely Benign: not provided | 30,548,350(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv2007e59 | CNV | duplication | 20981092 |
esv1248605 | CNV | insertion | 17803354 |
esv2662362 | CNV | deletion | 23128226 |
esv2718441 | CNV | deletion | 23290073 |
esv2718442 | CNV | deletion | 23290073 |
esv2718443 | CNV | deletion | 23290073 |
esv2718444 | CNV | deletion | 23290073 |
esv32918 | CNV | gain+loss | 17666407 |
esv3556276 | CNV | deletion | 23714750 |
esv3644137 | CNV | loss | 21293372 |
esv3644138 | CNV | loss | 21293372 |
esv8807 | CNV | loss | 19470904 |
esv989390 | CNV | insertion | 20482838 |
nsv1057700 | CNV | gain | 25217958 |
nsv1072879 | CNV | deletion | 25765185 |
nsv1146881 | CNV | deletion | 26484159 |
nsv138500 | CNV | deletion | 16902084 |
nsv458534 | CNV | loss | 19166990 |
nsv476424 | CNV | novel sequence insertion | 20440878 |
nsv579284 | CNV | loss | 21841781 |
nsv833801 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopia |
|
|