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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

Corresponding disease	HPPX hypopituitarism, variable degree HTC2 hypertrichosis, congenital, generalized 2 MRGH mental retardation, with isolated growth hormone deficiency
Location	Xq27.1      Physical location : 139.585.151 - 139.587.225
Synonym name	transcription factor SOX-3
Synonym symbol(s)	MRGH, SOXB, PHP, GHDX

DNA

TYPE	functioning gene
STRUCTURE	2.08 kb     1 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

provisional

Map	cen - DXS51 - DXS1192 - DXS102 - DXS7303 - F9 - DXS7096 - DXS1232 - DXS119 - DXS984 - SOX3 - CDR1 - DXS152 - DXS1205 , DXS105 - qter
Authors	Stevanovic (93), Zucchi (97), Mumm (97)

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005634 1 - 2085 NP_005625 - 446 - 2019 31678974

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain diencephalon hypothalamus     Reproductive male system prostate       Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining neuroepithelium

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	brain, spinal cord, pituitary, hypothalamus

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an high mobility group (HMG) domain
	a transactivation domain in the carboxyl terminus (transcription activation

HOMOLOGY

interspecies	homolog to murine Sox3 (95.4pc)
	homolog to C.elegans b0286.4

Homologene

FAMILY

SRY-related HMG box family of transcription factors

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	modulator of LINE retroposons promoter activity, playing a role in neuronal development
	is one of the key players in the development of the nervous system
	SOX2 and its close relative SOX3 have differentiation functions in oligodendrocytes
	SOX3, acting as an oncogene in epithelial ovarian cancer (EOC), is a crucial factor in the carcinogenesis
	SOX2 and SOX3 proteins are functionally equivalent
	is involved in embryonic development and tumorigenesis
	may serve as an oncogene in osteosarcoma
	while SOX3 is a regulatory mechanism for both sexes, the male-exclusive SRY also plays a role in gene regulation, suggesting a potential mechanism for sex bias in autism spectrum disorder (ASD)
	required during the formation of hypothalamo-pituitary axis
	role of GPR101 and SOX3 in pituitary function

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	central nervous system development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	TGIF overexpression downregulates SOX3 promoter activity and decreases endogenous SOX3 protein expression in both uninduced and retinoic acid (RA)-induced NT2/D1 cells
	DBX1 is a direct SOX3 target gene whose expression, intriguingly, is not fully rescued by other SOX transcription factors

cell & other

REGULATION

Other	up-regulated by PBX1 and MEIS1 by a direct interaction with a consensus binding site within the basal promoter region (Mojsin 2010)
	regulation is region-specific, consistent with it playing distinct biological roles in the dorsal telencephalon and hypothalamus

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