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Aliases for SOX17 Gene

Aliases for SOX17 Gene

  • SRY-Box 17 2 3 5
  • SRY (Sex Determining Region Y)-Box 17 2 3
  • SRY-Related HMG-Box Transcription Factor SOX17 3
  • Transcription Factor SOX-17 3
  • SRY Box 17 2
  • 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 17) is a Protein Coding gene. Diseases associated with SOX17 include Vesicoureteral Reflux 3 and Familial Vesicoureteral Reflux. Among its related pathways are Mesodermal Commitment Pathway and Cardiac Progenitor Differentiation. 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 SOX7.

UniProtKB/Swiss-Prot 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 looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells (By similarity).

Additional gene information for SOX17 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies 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
GH08I054457 Promoter/Enhancer 1.1 EPDnew ENCODE 550.8 +0.9 929 2.7 CTCF MAZ SUZ12 CEBPB CEBPG RAD21 POLR2A CTBP2 ZNF143 EZH2 SOX17 ENSG00000274310
GH08I054165 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.8 -292.0 -292014 1 HDAC1 CLOCK ATF1 ARID4B SIN3A RAD21 ZNF335 ZNF766 ZNF143 BCLAF1 MRPL15 SOX17 ATP6V1H TCEA1 RNU6ATAC32P GC08M054193
GH08I054326 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -130.3 -130316 2.8 L3MBTL2 JUN ETV1 ATF2 NR2F2 GABPA ZNF148 GABPB1 MYC MGA SOX17 GC08P054331 GC08M054298
GH08I054169 Enhancer 1.1 Ensembl ENCODE dbSUPER 11.3 -287.9 -287934 1.6 CTCF RB1 GTF2E2 CEBPG RAD21 GTF3C2 POLR2A SMC3 ZNF143 ZNF654 MRPL15 SOX17 ATP6V1H CHCHD2P10 RNU6ATAC32P GC08M054193
GH08I054421 Enhancer 0.4 ENCODE 11.1 -35.6 -35587 1.1 SCRT1 SCRT2 RN7SL250P SOX17 GC08M054445
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SOX17 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SOX17 gene promoter:

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)

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

No Post-translational modifications

Other Protein References for SOX17 Gene

ENSEMBL proteins:
REFSEQ proteins:

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

Graphical View of Domain Structure for InterPro Entry

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

No data available for 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 looping of the embryonic heart tube. Required for normal development of the definitive gut endoderm. Probable transcriptional activator in the premeiotic germ cells (By similarity).

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 RNA polymerase II transcription factor activity, sequence-specific DNA binding IEA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 DNA binding transcription factor activity IEA --
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IEA,ISS --
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:

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 2
cytosol 2
cytoskeleton 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:0005634 nucleus IEA,IDA 17875931
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IDA 19736317
GO:0044798 nuclear transcription factor complex IEA --
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

SIGNOR curated interactions for SOX17 Gene

Inactivates:

Gene Ontology (GO) - Biological Process for SOX17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA --
GO:0001525 angiogenesis IEA,ISS --
GO:0001570 vasculogenesis IEA,ISS --
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 :
(5) Additional mRNA sequences :
(54) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOX17 Gene

SRY (sex determining region Y)-box 17:
Representative Sequences:

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
ECgene alternative splicing isoforms for
SOX17

Expression for SOX17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for SOX17 Gene



Protein tissue co-expression partners for SOX17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SOX17 Gene:

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
Organs:
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 33 34
  • 99.11 (n)
dog
(Canis familiaris)
Mammalia SOX17 33 34
  • 88 (n)
cow
(Bos Taurus)
Mammalia SOX17 33 34
  • 87.11 (n)
mouse
(Mus musculus)
Mammalia Sox17 33 16 34
  • 83.9 (n)
rat
(Rattus norvegicus)
Mammalia Sox17 33
  • 83.82 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 70 (a)
OneToMany
-- 34
  • 65 (a)
OneToMany
chicken
(Gallus gallus)
Aves SOX17 33
  • 70.82 (n)
lizard
(Anolis carolinensis)
Reptilia SOX17 34
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sox17a 33
  • 62.19 (n)
zebrafish
(Danio rerio)
Actinopterygii sox17 34
  • 41 (a)
OneToOne
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Sox15 35 34
  • 69 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for SOX17 Gene

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

Pseudogenes.org Pseudogenes for SOX17 Gene

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

Variants for SOX17 Gene

Sequence variations from dbSNP and Humsavar for SOX17 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs267607082 pathogenic, Vesicoureteral reflux 3, Vesicoureteral reflux 3 (VUR3) [MIM:613674] 54,459,282(+) G/A/C/T coding_sequence_variant, missense_variant
rs267607083 uncertain-significance, likely-benign, Vesicoureteral reflux 3, not specified, Vesicoureteral reflux 3 (VUR3) [MIM:613674] 54,459,525(+) T/A coding_sequence_variant, missense_variant
rs1000269730 -- 54,456,993(+) T/C upstream_transcript_variant
rs1001499056 -- 54,456,824(+) A/G upstream_transcript_variant
rs1002224545 -- 54,456,953(+) A/G upstream_transcript_variant

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

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

Disorders for SOX17 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
vesicoureteral reflux 3
  • vur3
familial vesicoureteral reflux
  • familial vur
non-functioning pancreatic endocrine tumor
  • non functioning pancreatic endocrine tumor
intracranial aneurysm
  • brain aneurysm
extragonadal seminoma
  • primary extragonadal seminoma
- 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 22 58
  2. 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 58
  3. 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 22 58
  4. Genome-wide association study of intracranial aneurysm identifies three new risk loci. (PMID: 20364137) Yasuno K … Günel M (Nature genetics 2010) 3 44 58
  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 22 58

Products for SOX17 Gene

Sources for SOX17 Gene

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