This intronless gene encodes a transcription factor that is a member of the high mobility group (HMG)-box family of DNA-binding proteins. This protein is the testis-determining factor (TDF), which initiates male sex determination. Mutations in this gene give rise to XY females with gonadal dysgenesis (Swyer syndrome); translocation of part of the Y chromosome containing this gene to the X chromosome causes XX male syndrome. [provided by RefSeq, Jul 2008]
Subcellular localization of SRY (and its protein):
Gene Ontology (GO) terms for SRY:
| Interacting Gene | Interaction | Source/Score |
| Name |
|---|
| deactivation of the beta-catenin transactivating complex |
| Signaling by Wnt |
| TCF dependent signaling in response to WNT |
| Disease | Score | NofPmids | NofSnps | Source |
| 46,Xy Gonadal Dysgenesis, Complete, Sry-Related | 0.36 | 22 | 20 | CLINVAR_CTD_human_UNIPROT |
| Ovotesticular Disorders of Sex Development | 0.24408156 | 6 | 0 | BeFree_CTD_human_LHGDN_ORPHANET |
| XX males | 0.128143256 | 30 | 0 | BeFree_ORPHANET |
| Swyer Syndrome | 0.125624334 | 12 | 0 | BeFree_GAD_ORPHANET |
| 46, XX Testicular Disorders of Sex Development | 0.122714419 | 10 | 0 | BeFree_ORPHANET |
| 46,Xy True Hermaphroditism, Sry-Related | 0.12 | 0 | 1 | CLINVAR |
| Gonadal Dysgenesis | 0.017130633 | 36 | 4 | BeFree_LHGDN |
| Turner Syndrome | 0.012757768 | 47 | 4 | BeFree |
| Gonadal Dysgenesis, 46,XY | 0.007881746 | 19 | 0 | BeFree_LHGDN |
| 46, XY female | 0.007328931 | 27 | 1 | BeFree |
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