Statements (32)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
gptkb:ANOP3
gptkb:MCOPS3 gptkb:SRY_(sex_determining_region_Y)-box_2 |
gptkbp:associatedWith |
gptkb:cancer
gptkb:anophthalmia-esophageal-genital_syndrome microphthalmia |
gptkbp:discoveredIn |
1994
|
gptkbp:encodes |
gptkb:SOX2_protein
|
gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000181449
6657 |
gptkbp:expressedIn |
embryonic stem cells
neural stem cells |
gptkbp:function |
transcription factor
|
gptkbp:HGNC_ID |
11195
|
https://www.w3.org/2000/01/rdf-schema#label |
SOX2 gene
|
gptkbp:locatedOnChromosome |
3q26.3-q27
|
gptkbp:memberOf |
gptkb:SOX_gene_family
|
gptkbp:mutationAssociatedWith |
developmental disorders
ocular malformations |
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologIn |
gptkb:mouse
gptkb:zebrafish |
gptkbp:regulates |
gptkb:NANOG_gene
gptkb:OCT4_gene gptkb:SRY-box embryonic development stem cell pluripotency |
gptkbp:symbol |
gptkb:SOX2
|
gptkbp:UniProtID |
gptkb:P48431
|
gptkbp:bfsParent |
gptkb:Sox2
|
gptkbp:bfsLayer |
6
|