SOX17

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. [provided by RefSeq, Jul 2008]

SRY-Box 17

Acts as transcription regulator that binds target promoter DNA and bends the DNA. Binds to the sequences 5'-AACAAT-'3 or 5'-AACAAAG-3'. Modulates transcriptional regulation via WNT3A. Inhibits Wnt signaling. Promotes degradation of activated CTNNB1. Plays a key role in the regulation of embryonic development. Required for normal development of the definitive gut endoderm. Required for normal looping of the embryonic heart tube. Plays an important role in embryonic and postnatal vascular development, including development of arteries. Plays an important role in postnatal angiogenesis, where it is functionally redundant with SOX18. Required for the generation and maintenance of fetal hematopoietic stem cells, and for fetal hematopoiesis. Probable transcriptional activator in the premeiotic germ cells.

Biological Process anatomical structure morphogenesisManual Assertion Based On ExperimentIBA:GO_Central
Biological Process angiogenesisISS:BHF-UCL
Biological Process cardiac cell fate determinationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process cardiogenic plate morphogenesisISS:BHF-UCL
Biological Process cell differentiationManual Assertion Based On ExperimentIBA:GO_Central
Biological Process cell migration involved in gastrulationIEA:Ensembl
Biological Process cellular response to leukemia inhibitory factorIEA:Ensembl
Biological Process common bile duct developmentIEA:Ensembl
Biological Process embryonic foregut morphogenesisISS:BHF-UCL
Biological Process embryonic heart tube developmentISS:BHF-UCL
Biological Process embryonic heart tube morphogenesisISS:BHF-UCL
Biological Process endocardial cell differentiationISS:BHF-UCL
Biological Process endocardium formationISS:BHF-UCL
Biological Process endoderm formationManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process endodermal cell fate determinationIEA:Ensembl
Biological Process endodermal cell fate specificationISS:BHF-UCL
Biological Process endodermal digestive tract morphogenesisISS:BHF-UCL
Biological Process gall bladder developmentIEA:Ensembl
Biological Process heart developmentManual Assertion Based On ExperimentIBA:GO_Central
Biological Process heart formationManual Assertion Based On ExperimentTAS:BHF-UCL
Biological Process heart loopingISS:UniProtKB
Biological Process inner cell mass cellular morphogenesisIEA:Ensembl
Biological Process metanephros developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of canonical Wnt signaling pathwayManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of cell growthManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process negative regulation of Wnt signaling pathway involved in heart developmentIEA:Ensembl
Biological Process outflow tract morphogenesisISS:BHF-UCL
Biological Process positive regulation of DNA-templated transcriptionISS:BHF-UCL
Biological Process positive regulation of endodermal cell differentiationIEA:Ensembl
Biological Process positive regulation of gene expressionIEA:Ensembl
Biological Process positive regulation of protein catabolic processIEA:Ensembl
Biological Process positive regulation of stem cell differentiationIEA:Ensembl
Biological Process positive regulation of transcription by RNA polymerase IIManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process protein destabilizationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process protein stabilizationManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process regulation of cardiac cell fate specificationIEA:Ensembl
Biological Process regulation of DNA-templated transcriptionISS:UniProtKB
Biological Process regulation of embryonic developmentISS:UniProtKB
Biological Process regulation of stem cell divisionIEA:Ensembl
Biological Process regulation of stem cell proliferationIEA:Ensembl
Biological Process regulation of transcription by RNA polymerase IIISS:BHF-UCL
Biological Process rostrocaudal neural tube patterningIEA:Ensembl
Biological Process signal transduction involved in regulation of gene expressionIEA:Ensembl
Biological Process spermatogenesisIEA:Ensembl
Biological Process stem cell fate specificationIEA:Ensembl
Biological Process ureter developmentManual Assertion Based On ExperimentIMP:BHF-UCL
Biological Process vasculogenesisISS:BHF-UCL
Biological Process Wnt signaling pathwayIEA:UniProtKB-KW

Nucleus

Vesicoureteral reflux 3 (VUR3):
A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease.