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FLASH GENE
Symbol SOX17 contributors: mct/shn - updated : 20-10-205
HGNC name SRY (sex determining region y)-box 17
HGNC id 18122
Corresponding disease
VUR3 vesicoureteric reflux, CAKUT syndrome 3
Location 8q11.23      Physical location : 55.370.494 - 55.373.455
Synonym name
  • SRY-related HMG-box transcription factor SOX17
  • transcription factor SOX-17
  • SRY-box 17
  • Synonym symbol(s) FLJ22252, sox
    DNA
    TYPE functioning gene
    STRUCTURE 2.96 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D17S843 - D8S1737 - SOX17 - D8S509 - D8S2332 - qter
    Physical map
    LOC389658 8 similar to RPLK9433 RB1CC1 8p22-q11.23 RB1-inducible coiled-coil 1 GPR7 10q11.2-q21.1 G protein-coupled receptor 7 LOC392219 8 similar to ring finger protein 2 OPRK1 8q11.2 opioid receptor, kappa 1 LOC392220 8 similar to L21 ribosomal protein MAPK6PS1 8q11.23 similar to L21 ribosomal protein ATP6V1H 8p22-q22.3 ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H RGS20 8q11.22-q11.23 regulator of G-protein signalling 20 TCEA1 3p22-p21.3 transcription elongation factor A (SII), 1 LYPLA1 6pter-p25.1 lysophospholipase I TDGF5 8q11.23 teratocarcinoma-derived growth factor 5, pseudogene MRPL15 8q11.2-q13 mitochondrial ribosomal protein L15 LOC392221 8 similar to chromosome 7 open reading frame 17 protein; 16.7kD protein SOX17 8q11,22 SRY (sex determining region y)-box 17 LOC389659 8 hypothetical gene supported by BC028018 LOC392222 8 similar to RIKEN cDNA 0610038D11 LOC157708 8q11.23 similar to SPC18 protein RP1 8q11.21-q11.23 retinitis pigmentosa 1 (autosomal dominant) LOC392223 8 similar to ribosomal protein L7-like 1 LOC389660 8 similar to polycystin 1-like 3 LOC392224 8 similar to hypothetical protein 4932417K07 KIAA1889 8q11.23 KIAA1889 protein FLJ32370 8q11.23 hypothetical protein FLJ32370 NCOA6IP 8p11 nuclear receptor coactivator 6 interacting protein LYN 8q13 v-yes-1 Yamaguchi sarcoma viral related oncogene homolog PSMC6P 8q11.23 proteasome (prosome, macropain) 26S subunit, ATPase, 6 pseudogene RPS20 8 ribosomal protein S20 MOS 8q11 v-mos Moloney murine sarcoma viral oncogene homolog PLAG1 8q12 pleiomorphic adenoma gene 1 MGC2217 RDH-E2 8q12.1 retinal short chain dehydrogenase reductase
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 2350 - 414 - 2002 11786926
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiensNM_022454
    Digestiveesophagus     Homo sapiensNM_022454
     esophagus   predominantly Homo sapiensNM_022454
     intestinelarge intestinecolon lowly Homo sapiensNM_022454
     intestinesmall intestine  predominantly Homo sapiensNM_022454
     intestinelarge intestinerectum lowly Homo sapiensNM_022454
     stomach   predominantly Homo sapiensNM_022454
     stomach     Homo sapiensNM_022454
    Lymphoid/Immunespleen     Homo sapiensNM_022454
    Reproductivefemale systemovary    Homo sapiensNM_022454
     female systemplacenta    Homo sapiensNM_022454
     male systemtestis    Homo sapiensNM_022454
    Respiratorylung     Homo sapiensNM_022454
     lung     Homo sapiensNM_022454
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Respiratoryepithelial cell Homo sapiensNM_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
    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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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
    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