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The ZSCAN4 gene encodes a protein involved in telomere maintenance and with a key role in the critical feature of mouse embryonic stem (ES) cells, namely, defying cellular senescence and maintaining normal karyotype for many cell divisions in culture (Zalzman et al., 2010 [PubMed 20336070]).[supplied by OMIM, May 2010]
ZSCAN4 (Zinc Finger And SCAN Domain Containing 4) is a Protein Coding gene. Diseases associated with ZSCAN4 include Facioscapulohumeral Muscular Dystrophy 1 and Facioscapulohumeral Muscular Dystrophy 2. Among its related pathways are Preimplantation Embryo. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is ZNF263.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO:0046872 | metal ion binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000781 | chromosome, telomeric region | IEA | -- |
GO:0000784 | nuclear chromosome, telomeric region | ISS | 20336070 |
GO:0005634 | nucleus | IEA | -- |
GO:0005694 | chromosome | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Preimplantation Embryo |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0010833 | telomere maintenance via telomere lengthening | ISS | 20336070 |
GO:0045950 | negative regulation of mitotic recombination | ISS | 20336070 |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ZSCAN4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ZSCAN4 30 |
|
||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Cow (Bos Taurus) |
Mammalia | ZSCAN4 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Zscan4e 31 |
|
OneToMany | |
Zscan4d 31 |
|
OneToMany | |||
Zscan4c 31 |
|
OneToMany | |||
Zscan4b 31 |
|
OneToMany | |||
Zscan4f 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
777511 | Benign: not provided | 57,678,455(+) | G/C | MISSENSE_VARIANT | |
rs11668570 | - | p.Glu387Lys |
Disorder | Aliases | PubMed IDs |
---|---|---|
facioscapulohumeral muscular dystrophy 1 |
|
|
facioscapulohumeral muscular dystrophy 2 |
|
|