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FLASH GENE

Symbol

SOX3

contributors: mct - updated : 25-05-2022

HGNC name	SRY (sex determining region Y)-box 3
HGNC id	11199

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

MRGH , HPPX , HTC2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional   deletion     in a male patient with hemophilia and mental retardation (and testicular failure) constitutional     --low   or overexpressed in anterior pituitary hypoplasia (APH), absent infundibulum, and an ectopic/undescended posterior pituitary with or without mental retardation constitutional germinal mutation       in MRXS15 constitutional   amplification     a case of XX male sex reversal associated with a novel de novo duplication of the SOX3 gene tumoral     --low   inhibited the proliferation, migration and invasion of osteosarcoma cells constitutional   amplification     SOX3 duplication in lumbosacral spina bifida constitutional     --over   promoter of the human SOX3 gene is extremely hypomethylated both in undifferentiated NT2/D1 cells and during the early phases of RA-induced neural differentiation tumoral       loss of function promoted gastric cancer cell invasion and migration

Susceptibility

to neural tube defects

Variant & Polymorphism other	increased levels of SOX3 could be a risk factor for neural tube defects

Candidate gene	for development of Peters anomaly of the eye
Marker	may serve as a candidate prognosis marker for gastric cancer
Therapy target
	System Type Disorder Pubmed cancer bone   SOX3 downregulation may prove to be a novel approach for the inhibition of osteosarcoma progression cancer reproductive ovary promising therapeutic target for EOC

ANIMAL & CELL MODELS