Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
X-linked hypopituitarism
|
| gptkbp:discoveredIn |
1994
|
| gptkbp:encodes |
SOX3 protein
|
| gptkbp:Entrez_Gene_ID |
6650
ENSG00000134595 |
| gptkbp:expressedIn |
gptkb:pituitary_gland
brain |
| gptkbp:fullName |
SRY-box transcription factor 3
|
| gptkbp:function |
transcription factor
|
| gptkbp:hasParalog |
gptkb:SOX2
gptkb:SOX1 gptkb:SOX14 |
| gptkbp:HGNC_ID |
11194
|
| https://www.w3.org/2000/01/rdf-schema#label |
SOX3
|
| gptkbp:involvedIn |
neural development
|
| gptkbp:locatedOnChromosome |
X
|
| gptkbp:mutationAssociatedWith |
gptkb:hypopituitarism
intellectual disability |
| gptkbp:OMIM |
313430
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:SRY
|
| gptkbp:proteinFamily |
gptkb:SOX_family
|
| gptkbp:regulates |
gene expression
|
| gptkbp:relatedTo |
sex determination
|
| gptkbp:UniProtID |
P41225
|
| gptkbp:bfsParent |
gptkb:SOX_gene
gptkb:SOX_proteins gptkb:Sry-related_HMG-box_(SOX)_gene_family |
| gptkbp:bfsLayer |
6
|