Format

Send to:

Choose Destination

SOX17 SRY-box 17 [ Homo sapiens (human) ]

Gene ID: 64321, updated on 3-Jun-2018
Official Symbol
SOX17provided by HGNC
Official Full Name
SRY-box 17provided by HGNC
Primary source
HGNC:HGNC:18122
See related
Ensembl:ENSG00000164736 MIM:610928; Vega:OTTHUMG00000164377
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
VUR3
Summary
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]
Expression
Broad expression in endometrium (RPKM 12.0), fat (RPKM 9.8) and 14 other tissues See more
Orthologs
See SOX17 in Genome Data Viewer
Location:
8q11.23
Exon count:
2
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (54457935..54460896)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (55370495..55373456)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 250, pseudogene Neighboring gene uncharacterized LOC105375841 Neighboring gene translation initiation factor IF-2 Neighboring gene tRNA methyltransferase subunit 11-2 pseudogene 7

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Vesicoureteral reflux 3
MedGen: C3150927 OMIM: 613674 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
NHGRI GWA Catalog
Genome-wide association study of intracranial aneurysm identifies three new risk loci.
NHGRI GWA Catalog
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
NHGRI GWA Catalog
  • Cardiac Progenitor Differentiation, organism-specific biosystem (from WikiPathways)
    Cardiac Progenitor Differentiation, organism-specific biosystemFactors involved in the induction of cardiac differentiation in vitro and in vivo. This model was based on the below two review articles.
  • Deactivation of the beta-catenin transactivating complex, organism-specific biosystem (from REACTOME)
    Deactivation of the beta-catenin transactivating complex, organism-specific biosystemThe mechanisms involved in downregulation of TCF-dependent transcription are not yet very well understood. beta-catenin is known to recruit a number of transcriptional repressors, including Reptin, S...
  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by Wnt, organism-specific biosystem (from REACTOME)
    Signaling by Wnt, organism-specific biosystemWNT signaling pathways control a wide range of developmental and adult process in metozoans including cell proliferation, cell fate decisions, cell polarity and stem cell maintenance (reviewed in Sai...
  • TCF dependent signaling in response to WNT, organism-specific biosystem (from REACTOME)
    TCF dependent signaling in response to WNT, organism-specific biosystem19 WNT ligands and 10 FZD receptors have been identified in human cells; interactions amongst these ligands and receptors vary in a developmental and tissue-specific manner and lead to activation of ...
  • Wnt signaling pathway, organism-specific biosystem (from KEGG)
    Wnt signaling pathway, organism-specific biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
  • Wnt signaling pathway, conserved biosystem (from KEGG)
    Wnt signaling pathway, conserved biosystemWnt proteins are secreted morphogens that are required for basic developmental processes, such as cell-fate specification, progenitor-cell proliferation and the control of asymmetric cell division, i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ22252

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA polymerase II transcription factor activity, sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISA
Inferred from Sequence Alignment
more info
 
RNA polymerase II transcription factor activity, sequence-specific DNA binding ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
Non-traceable Author Statement
more info
PubMed 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
anatomical structure morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
blood vessel development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
canonical Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
cardiac cell fate determination IMP
Inferred from Mutant Phenotype
more info
PubMed 
cardiogenic plate morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell migration involved in gastrulation IEA
Inferred from Electronic Annotation
more info
 
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
common bile duct development IEA
Inferred from Electronic Annotation
more info
 
embryonic foregut morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic heart tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
embryonic heart tube morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
endocardium formation ISS
Inferred from Sequence or Structural Similarity
more info
 
endoderm formation IDA
Inferred from Direct Assay
more info
PubMed 
endodermal cell fate determination IEA
Inferred from Electronic Annotation
more info
 
endodermal digestive tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
gall bladder development IEA
Inferred from Electronic Annotation
more info
 
heart development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
heart formation TAS
Traceable Author Statement
more info
PubMed 
heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
inner cell mass cellular morphogenesis IEA
Inferred from Electronic Annotation
more info
 
mRNA transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of Wnt signaling pathway involved in heart development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of mesodermal cell fate specification IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of skeletal muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
protein destabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of cardiac cell fate specification IEA
Inferred from Electronic Annotation
more info
 
regulation of embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of stem cell division IEA
Inferred from Electronic Annotation
more info
 
regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription from RNA polymerase II promoter involved in definitive endodermal cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
renal system development IMP
Inferred from Mutant Phenotype
more info
PubMed 
rostrocaudal neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
stem cell fate specification IEA
Inferred from Electronic Annotation
more info
 
vasculogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
nuclear transcription factor complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nuclear transcription factor complex IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor complex IDA
Inferred from Direct Assay
more info
PubMed 
Preferred Names
transcription factor SOX-17
Names
SRY (sex determining region Y)-box 17
SRY-related HMG-box transcription factor SOX17

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_028171.1 RefSeqGene

    Range
    5001..7962
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022454.3NP_071899.1  transcription factor SOX-17

    See identical proteins and their annotated locations for NP_071899.1

    Status: REVIEWED

    Source sequence(s)
    AC091076, AK025905, DA874945
    Consensus CDS
    CCDS6159.1
    UniProtKB/Swiss-Prot
    Q9H6I2
    Related
    ENSP00000297316.4, OTTHUMP00000226577, ENST00000297316.4, OTTHUMT00000378526
    Conserved Domains (2) summary
    cd01388
    Location:67138
    SOX-TCF_HMG-box; SOX-TCF_HMG-box, class I member of the HMG-box superfamily of DNA-binding proteins. These proteins contain a single HMG box, and bind the minor groove of DNA in a highly sequence-specific manner. Members include SRY and its homologs in insects and ...
    pfam12067
    Location:201412
    Sox_C_TAD; Sox C-terminal transactivation domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    54457935..54460896
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center