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This gene is thought to play a role in a complex developmental pathway and the regulation of genes involved in cerebellar development. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia. [provided by RefSeq, Jan 2011]
ZNF592 (Zinc Finger Protein 592) is a Protein Coding gene. Diseases associated with ZNF592 include Galloway-Mowat Syndrome 1 and Spinocerebellar Ataxia Autosomal Recessive 5. An important paralog of this gene is ZNF687.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0005515 | protein binding | IPI | 25416956 |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZNF592 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZNF592 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Zfp592 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Zfp592 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ZNF592 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | ZNF592 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Chicken (Gallus gallus) |
Aves | ZNF592 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | ZNF592 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | znf592 30 |
|
||
Str.9091 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | MGC68936 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | znf592 30 31 |
|
OneToOne | |
wufj94a04 30 |
|
||||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 15 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691401 | Uncertain Significance: Hirschsprung disease | 84,802,022(+) | C/A | MISSENSE_VARIANT | |
770435 | Benign: not provided | 84,798,759(+) | C/T | MISSENSE_VARIANT | |
774500 | Benign: not provided | 84,783,724(+) | G/A | MISSENSE_VARIANT | |
776940 | Benign: not provided | 84,783,567(+) | A/G | MISSENSE_VARIANT | |
781837 | Benign: not provided | 84,801,985(+) | C/T | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2672879 | CNV | deletion | 23128226 |
esv2760049 | CNV | loss | 17122850 |
esv29903 | CNV | loss | 19812545 |
nsv1071230 | CNV | deletion | 25765185 |
nsv517833 | CNV | gain | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
galloway-mowat syndrome 1 |
|
|
spinocerebellar ataxia autosomal recessive 5 |
|
|
spinocerebellar ataxia, autosomal recessive 6 |
|
|
spinocerebellar ataxia, autosomal recessive 4 |
|
|
autosomal recessive cerebellar ataxia |
|
|