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

Gene ID: 64321, updated on 22-Nov-2020

Summary

Official Symbol
SOX17provided by HGNC
Official Full Name
SRY-box transcription factor 17provided by HGNC
Primary source
HGNC:HGNC:18122
See related
Ensembl:ENSG00000164736 MIM:610928
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

Genomic context

See SOX17 in Genome Data Viewer
Location:
8q11.23
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (54457935..54460892)
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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genome-wide association study of intracranial aneurysm identifies three new risk loci.
GeneReviews: Not available
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
GeneReviews: Not available
Vesicoureteral reflux 3
MedGen: C3150927 OMIM: 613674 GeneReviews: Not available
Compare labs

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22252

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription activator activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription factor binding IPI
Inferred from Physical Interaction
more info
PubMed 
transcription regulatory region sequence-specific DNA binding ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
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
 
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
 
metanephros development IMP
Inferred from Mutant Phenotype
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 
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 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, 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
 
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
 
ureter development IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
chromatin IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription regulator complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transcription factor SOX-17
Names
SRY (sex determining region Y)-box 17
SRY-box 17
SRY-related HMG-box transcription factor SOX17

NCBI Reference Sequences (RefSeq)

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..7958
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_022454.4NP_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, ENST00000297316.5
    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 Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    54457935..54460892
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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