SRY (sex determining region Y)-box 2
GPTKB entity
Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
gptkb:SOX2
|
| gptkbp:associatedWith |
microphthalmia
anophthalmia-esophageal-genital (AEG) syndrome |
| gptkbp:discoveredIn |
1994
|
| gptkbp:encodes |
transcription factor SOX-2
|
| gptkbp:Entrez_Gene_ID |
6657
|
| gptkbp:expressedIn |
central nervous system
embryonic stem cells |
| gptkbp:function |
regulation of embryonic development
maintenance of pluripotency in stem cells |
| https://www.w3.org/2000/01/rdf-schema#label |
SRY (sex determining region Y)-box 2
|
| gptkbp:locatedOnChromosome |
3q26.3-q27
|
| gptkbp:memberOf |
gptkb:SOX_gene_family
|
| gptkbp:mutationAssociatedWith |
ocular malformations
|
| gptkbp:orthologInMouse |
gptkb:Sox2
|
| gptkbp:proteinFamily |
HMG-box domain
|
| gptkbp:regulates |
gptkb:NANOG
gptkb:OCT4 gptkb:FGF4 |
| gptkbp:UniProtID |
gptkb:P48431
|
| gptkbp:bfsParent |
gptkb:SOX2_gene
|
| gptkbp:bfsLayer |
7
|