SRY (sex determining region Y)
GPTKB entity
Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeName |
testis-determining factor gene
|
gptkbp:associatedWith |
gptkb:Swyer_syndrome
gptkb:46,XX_testicular_disorder_of_sex_development |
gptkbp:discoveredBy |
gptkb:Peter_Goodfellow
|
gptkbp:domain |
HMG-box
|
gptkbp:encodes |
gptkb:testis-determining_factor
|
gptkbp:Entrez_Gene_ID |
6736
|
gptkbp:expressedIn |
developing gonads
|
gptkbp:firstDescribed |
1990
|
gptkbp:function |
initiates male sex determination
|
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
11316
|
https://www.w3.org/2000/01/rdf-schema#label |
SRY (sex determining region Y)
|
gptkbp:involvedIn |
male gonadal development
|
gptkbp:locatedOn |
gptkb:Y_chromosome
|
gptkbp:locatedOnChromosome |
Yp11.2
|
gptkbp:mutationAssociatedWith |
sex reversal
|
gptkbp:OMIM |
480000
|
gptkbp:orthologIn |
gptkb:Mus_musculus
|
gptkbp:regulates |
gptkb:SOX9
yes |
gptkbp:sequence |
828 bp
|
gptkbp:species |
gptkb:Homo_sapiens
|
gptkbp:symbol |
gptkb:SRY
|
gptkbp:UniProtID |
gptkb:Q05066
|
gptkbp:bfsParent |
gptkb:SOX_gene_family
|
gptkbp:bfsLayer |
7
|