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] See more...

Aliases for SOX17 Gene

Aliases for SOX17 Gene

  • SRY-Box Transcription Factor 17 2 3 5
  • SRY (Sex Determining Region Y)-Box 17 2 3
  • Transcription Factor SOX-17 3 4
  • SRY-Box 17 2 3
  • SRY-Related HMG-Box Transcription Factor SOX17 3
  • VUR3 3

External Ids for SOX17 Gene

Previous GeneCards Identifiers for SOX17 Gene

  • GC08P054642
  • GC08P055309
  • GC08P055093
  • GC08P055420
  • GC08P055533
  • GC08P050838
  • GC08P055370

Summaries for SOX17 Gene

Entrez Gene Summary for SOX17 Gene

  • 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]

GeneCards Summary for SOX17 Gene

SOX17 (SRY-Box Transcription Factor 17) is a Protein Coding gene. Diseases associated with SOX17 include Vesicoureteral Reflux 3 and Familial Vesicoureteral Reflux. Among its related pathways are ERK Signaling and Signaling by Wnt. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is SOX18.

UniProtKB/Swiss-Prot Summary for SOX17 Gene

  • 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.

Additional gene information for SOX17 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOX17 Gene

Genomics for SOX17 Gene

GeneHancer (GH) Regulatory Elements for SOX17 Gene

Promoters and enhancers for SOX17 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J054457 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 500.7 +1.5 1530 3.9 CTCF HDAC2 EZH2 POLR2A CEBPG CEBPB MAZ CBX8 SUZ12 RAD21 SOX17 lnc-LYPLA1-6 ENSG00000274310
GH08J054165 Promoter/Enhancer 1.3 ENCODE CraniofacialAtlas dbSUPER 10.8 -292.0 -292029 0.9 CTCF TEAD4 REST MYC CHD1 CTBP1 RAD21 TEAD1 ZKSCAN8 SMC3 HSALNG0065359 MRPL15 SOX17 ATP6V1H TCEA1 piR-32214-649
GH08J054326 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -129.9 -129934 5.6 GABPA MAX NR2F2 FOS ZNF589 NRF1 CTCF GATA2 ETV1 RAD21 SOX17 RNU105C piR-35674-509
GH08J054169 Enhancer 0.8 ENCODE dbSUPER 10.8 -288.4 -288419 0.2 ZNF217 CTCF GTF2E2 REST RAD21 TRIM22 GATAD2B SMC3 ZNF341 CEBPG MRPL15 SOX17 ATP6V1H HSALNG0065359 piR-32214-649
GH08J054421 Enhancer 0.4 ENCODE 11.2 -35.6 -35587 1.1 EZH2 SCRT1 FOXA2 SCRT2 RF00017-7058 RN7SL250P lnc-SOX17-2 SOX17 HSALNG0065377
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOX17 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOX17

Top Transcription factor binding sites by QIAGEN in the SOX17 gene promoter:
  • c-Ets-1
  • GATA-6
  • HNF-4alpha1
  • HNF-4alpha2
  • Nkx2-5

Genomic Locations for SOX17 Gene

Genomic Locations for SOX17 Gene
chr8:54,457,935-54,460,896
(GRCh38/hg38)
Size:
2,962 bases
Orientation:
Plus strand
chr8:55,370,495-55,373,456
(GRCh37/hg19)
Size:
2,962 bases
Orientation:
Plus strand

Genomic View for SOX17 Gene

Genes around SOX17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOX17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOX17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOX17 Gene

Proteins for SOX17 Gene

  • Protein details for SOX17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H6I2-SOX17_HUMAN
    Recommended name:
    Transcription factor SOX-17
    Protein Accession:
    Q9H6I2

    Protein attributes for SOX17 Gene

    Size:
    414 amino acids
    Molecular mass:
    44117 Da
    Quaternary structure:
    • Interacts with CTNNB1, LEF1 and TCF4.

    Three dimensional structures from OCA and Proteopedia for SOX17 Gene

neXtProt entry for SOX17 Gene

Post-translational modifications for SOX17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOX17 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for SOX17

No data available for DME Specific Peptides for SOX17 Gene

Domains & Families for SOX17 Gene

Gene Families for SOX17 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SOX17 Gene

Suggested Antigen Peptide Sequences for SOX17 Gene

GenScript: Design optimal peptide antigens:
  • SOX17 protein (Q2NKK5_HUMAN)
  • SOX17 protein (Q2T9L5_HUMAN)
  • Transcription factor SOX-17 (SOX17_HUMAN)
genes like me logo Genes that share domains with SOX17: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOX17 Gene

Function for SOX17 Gene

Molecular function for SOX17 Gene

UniProtKB/Swiss-Prot Function:
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.

Phenotypes From GWAS Catalog for SOX17 Gene

Gene Ontology (GO) - Molecular Function for SOX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS,IEA 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,IBA 21873635
GO:0003677 DNA binding IEA --
GO:0003700 DNA-binding transcription factor activity IEA --
GO:0003713 transcription coactivator activity IEA --
genes like me logo Genes that share ontologies with SOX17: view
genes like me logo Genes that share phenotypes with SOX17: view

Human Phenotype Ontology for SOX17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SOX17 Gene

MGI Knock Outs for SOX17:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for SOX17

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SOX17 Gene

Localization for SOX17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOX17 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOX17 gene
Compartment Confidence
nucleus 5
extracellular 3
cytosol 3
plasma membrane 2
cytoskeleton 2
mitochondrion 2
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for SOX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA,IBA 17875931
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 19736317
GO:0044798 nuclear transcription factor complex IBA,IEA 21873635
genes like me logo Genes that share ontologies with SOX17: view

Pathways & Interactions for SOX17 Gene

genes like me logo Genes that share pathways with SOX17: view

Pathways by source for SOX17 Gene

SIGNOR curated interactions for SOX17 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for SOX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEA,ISS --
GO:0001570 vasculogenesis IEA,ISS --
GO:0001656 metanephros development IMP 20960469
GO:0001706 endoderm formation IDA 18682240
GO:0001828 inner cell mass cellular morphogenesis IEA --
genes like me logo Genes that share ontologies with SOX17: view

Drugs & Compounds for SOX17 Gene

No Compound Related Data Available

Transcripts for SOX17 Gene

mRNA/cDNA for SOX17 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for SOX17

Alternative Splicing Database (ASD) splice patterns (SP) for SOX17 Gene

No ASD Table

Relevant External Links for SOX17 Gene

GeneLoc Exon Structure for
SOX17

Expression for SOX17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SOX17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOX17 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x6.5).

Protein differential expression in normal tissues from HIPED for SOX17 Gene

This gene is overexpressed in Heart (65.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for SOX17 Gene



Protein tissue co-expression partners for SOX17 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOX17

SOURCE GeneReport for Unigene cluster for SOX17 Gene:

Hs.98367

mRNA Expression by UniProt/SwissProt for SOX17 Gene:

Q9H6I2-SOX17_HUMAN
Tissue specificity: Expressed in adult heart, lung, spleen, testis, ovary, placenta, fetal lung, and kidney. In normal gastrointestinal tract, it is preferentially expressed in esophagus, stomach and small intestine than in colon and rectum.

Evidence on tissue expression from TISSUES for SOX17 Gene

  • Pancreas(2.2)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SOX17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • immune
  • reproductive
  • skeleton
  • urinary
Regions:
Abdomen:
  • kidney
Pelvis:
  • placenta
  • ureter
  • urethra
  • urinary bladder
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • white blood cell
genes like me logo Genes that share expression patterns with SOX17: view

Orthologs for SOX17 Gene

This gene was present in the common ancestor of animals.

Orthologs for SOX17 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOX17 31 30
  • 99.11 (n)
OneToOne
dog
(Canis familiaris)
Mammalia SOX17 31 30
  • 88 (n)
OneToOne
cow
(Bos Taurus)
Mammalia SOX17 31 30
  • 87.11 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Sox17 17 31 30
  • 83.9 (n)
rat
(Rattus norvegicus)
Mammalia Sox17 30
  • 83.82 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 70 (a)
OneToMany
-- 31
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves SOX17 30
  • 70.82 (n)
lizard
(Anolis carolinensis)
Reptilia SOX17 31
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox17a 30
  • 62.19 (n)
zebrafish
(Danio rerio)
Actinopterygii sox17 31
  • 41 (a)
OneToOne
-- 30
fruit fly
(Drosophila melanogaster)
Insecta Sox15 31 32
  • 17 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 17 (a)
OneToMany
Species where no ortholog for SOX17 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for SOX17 Gene

ENSEMBL:
Gene Tree for SOX17 (if available)
TreeFam:
Gene Tree for SOX17 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SOX17: view image

Paralogs for SOX17 Gene

(16) SIMAP similar genes for SOX17 Gene using alignment to 3 proteins:

  • SOX17_HUMAN
  • Q2NKK5_HUMAN
  • Q2T9L5_HUMAN

Pseudogenes.org Pseudogenes for SOX17 Gene

genes like me logo Genes that share paralogs with SOX17: view

Variants for SOX17 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOX17 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
rs1194638628 Uncertain Significance: not provided 54,459,796(+) G/T MISSENSE_VARIANT
rs1554579184 Likely Benign: Vesicoureteral reflux 54,459,206(+) G/C MISSENSE_VARIANT
rs1563871910 Uncertain Significance: not provided 54,459,557(+) CA/AT MISSENSE_VARIANT
rs1563872772 Uncertain Significance: not provided 54,459,972(+) T/TA NONSENSE
rs267607082 Conflicting Interpretations: Vesicoureteral reflux 3; not provided. Vesicoureteral reflux 3 (VUR3) [MIM:613674] 54,459,282(+) G/Tp.Gly178Cys MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for SOX17 Gene

Structural Variations from Database of Genomic Variants (DGV) for SOX17 Gene

Variant ID Type Subtype PubMed ID
nsv438055 CNV loss 16468122
nsv499746 OTHER inversion 21111241
nsv7417 OTHER inversion 18451855

Variation tolerance for SOX17 Gene

Gene Damage Index Score: 2.25; 40.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOX17 Gene

Human Gene Mutation Database (HGMD)
SOX17
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOX17

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOX17 Gene

Disorders for SOX17 Gene

MalaCards: The human disease database

(14) MalaCards diseases for SOX17 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
vesicoureteral reflux 3
  • vur3
familial vesicoureteral reflux
  • familial vur
intracranial aneurysm
  • brain aneurysm
arteriovenous malformations of the brain
  • bavm
cakut
  • renal hypodysplasia, nonsyndromic, 1
- elite association - COSMIC cancer census association via MalaCards
Search SOX17 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SOX17_HUMAN
  • Vesicoureteral reflux 3 (VUR3) [MIM:613674]: 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. {ECO:0000269 PubMed:20960469}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SOX17

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SOX17: view

No data available for Genatlas for SOX17 Gene

Publications for SOX17 Gene

  1. Molecular cloning and characterization of human SOX17. (PMID: 11786926) Katoh M (International journal of molecular medicine 2002) 2 3 4 23 54
  2. Genome-wide association study of intracranial aneurysm identifies three new risk loci. (PMID: 20364137) Yasuno K … Günel M (Nature genetics 2010) 3 41 54
  3. Mutations in SOX17 are associated with congenital anomalies of the kidney and the urinary tract. (PMID: 20960469) Gimelli S … Ghiggeri GM (Human mutation 2010) 3 4 54
  4. Sox17, the canonical Wnt antagonist, is epigenetically inactivated by promoter methylation in human breast cancer. (PMID: 19301122) Fu DY … Shao ZM (Breast cancer research and treatment 2010) 3 23 54
  5. Interplay of Oct4 with Sox2 and Sox17: a molecular switch from stem cell pluripotency to specifying a cardiac fate. (PMID: 19736317) Stefanovic S … Pucéat M (The Journal of cell biology 2009) 3 23 54

Products for SOX17 Gene

Sources for SOX17 Gene