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FLASH GENE

Symbol

SOX17

contributors: mct/shn - updated : 20-10-2020

HGNC name	SRY (sex determining region y)-box 17
HGNC id	18122

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022454 2 - 2350 NP_071899 - 414 - 2002 11786926

EXPRESSION

Type

widely

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 Cardiovascular heart         Homo sapiens NM_022454 Digestive esophagus         Homo sapiens NM_022454   esophagus       predominantly Homo sapiens NM_022454   intestine large intestine colon   lowly Homo sapiens NM_022454   intestine small intestine     predominantly Homo sapiens NM_022454   intestine large intestine rectum   lowly Homo sapiens NM_022454   stomach       predominantly Homo sapiens NM_022454   stomach         Homo sapiens NM_022454 Lymphoid/Immune spleen         Homo sapiens NM_022454 Reproductive female system ovary       Homo sapiens NM_022454   female system placenta       Homo sapiens NM_022454   male system testis       Homo sapiens NM_022454 Respiratory lung         Homo sapiens NM_022454   lung         Homo sapiens NM_022454

cells

System Cell Pubmed Species Stage Rna symbol Respiratory epithelial cell Homo sapiens NM_022454

cell lineage
cell lines	ovarian tumor cell lines
fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	lung and kidney
	parietal endoderm of E7.5 mouse embryos

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	DNA binding protein with an high mobility group (HMG)domain
	the DNA- or beta-catenin-binding domain controlled context-specific binding of SOX17/TCF complexes on the LEF1 promoter

conjugated

sumoylated

HOMOLOGY

interspecies	ortholog to Sox17, Mus musculus
	ortholog to sox17, Danio rerio
	ortholog to Sox17, Rattus norvegicus
	ortholog to SOX17, Pan troglodytes

intraspecies	homolog to SOX18
	homolog to SOX7

Homologene

FAMILY

SRY-related HMG box family of transcription factors

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,chromatin/chromosome

basic FUNCTION	probable transcriptional activator in the premeiotic germ cells
	playing an essential role in cardiac mesoderm specification
	playing an important role for definitive hematopoiesis, and maintaining fetal but not adult hematopoietic stem cells
	required for hematopoiesis in the fetal liver and yolk sac
	playing an important roles in controlling both oligodendrocyte progenitor cell cycle exit and differentiation
	potent activator of Fgf-3 transcription
	involved in the regulation of parietal endoderm-specific enhancer activity of the mouse Lama1 gene
	involved in mammalian vascular development
	an essential role in cardiac muscle cell formation
	Sry-related HMG-box transcription factor developmentally expressed in both the definitive endoderm and extraembryonic endoderm
	regulates endodermal lineage commitment and is thought to function antagonistically to the pluripotency determinant SOX2
	required for early endoderm formation, and activates the cell cycle and reinitiates multipotent progenitor cell behavior in mature lung cells
	required for diverse developmental processes including endoderm formation, vascular development, and fetal hematopoietic stem cell maintenance
	a strain-specific modifier of the Sox18 mutant phenotype
	role of SOX17 and HES1 in patterning and morphogenetic segregation of ventral foregut lineages
	transcriptional regulator of differentiation in embryonic pluripotent cells
	can directly regulate Wnt/beta-catenin-dependent transcription of the LEF1 promoter
	role of SOX17 in kidney and urinary tract development
	regulates the Wnt/CTNNB signaling pathway in oligodendrocyte progenitor cells
	sufficient to confer fetal hematopoietic stem cells characteristics to adult hematopoietic progenitors and is therefore a key determinant of fetal hematopoietic stem cells identity
	suppresses cyclin D1 expression and cell proliferation by directly antagonizing &
	946;-catenin
	is a transcription factor that can inhibit Wnt signaling, promote the degradation of activated CTNNB1, and participate in cell proliferation

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

development

text	embryogenesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA	Fgf-3 promoter
	two SOX-binding sites within the Lama1 enhancer
	LEF1 promoter

RNA

small molecule

protein	TCF/lymphoid enhancer factor family members
	ZNF202
	T-cell transcription factor 4 and &
	946;-catenin
	genomic redistribution of POU5F1 by alternative partnering with SOX2 and SOX17 is a fundamental regulatory event of endodermal specification
	HHEX and CER1 mediate the SOX17 pathway for cardiac mesoderm formation in embryonic stem cells
	SOX17 is negatively related to KIF14 expression in HCC tissue and SOX17 inhibits hepatocellular carcinoma (HCC) cell proliferation and migration by transcriptional downregulation of KIF14 expression

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

VUR3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional         causing a severe defect in fetal hematopoiesis tumoral       loss of function epigenetically inactivated by promoter methylation in breast cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	may be a valuable biomarker for the study of breast cancer carcinogenesis and progression
	CNV of SOX17 is not only related to the patient's prognosis, but also related to gene methylation and expression levels affecting the patient's survival time in breast cancer
Therapy target

ANIMAL & CELL MODELS

	Sox17(+/-)-Sox18(-/-) double mutant pups died before postnatal day 21 due to reduced neovascularization in the liver sinusoids and kidney outer medulla vasa recta at P7, which most likely caused the ischemic necrosis in hepatocytes and renal tubular epithelia
	Sox17 short-hairpin RNA suppresses cardiac myogenesis selectively, blocks cardiac myogenesis non-cell autonomously and impairs the induction of Hex transcription factor which is required for the production of endoderm-derived heart-inducing factors
	Deletion of mouse Sox17 at E8.5 results in the loss of biliary structures and ectopic pancreatic tissue in the liver bud and common duct, while Sox17 overexpression suppresses pancreas development and promotes ectopic biliary-like tissue
	Sox17-null mouse embryos display complete loss of the gallbladder/bile-duct structure
	Sox17 knockdown increases the cyclin D1, Axin2, and activated &
	946;-catenin levels in rat cortical OPC