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

Gene ID: 64321, updated on 9-Dec-2024

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; AllianceGenome:HGNC:18122
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
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Genomic context

See SOX17 in Genome Data Viewer
Location:
8q11.23
Exon count:
2
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (54457935..54460892)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (54835189..54838146)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (55370495..55373452)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 250, pseudogene Neighboring gene uncharacterized LOC105375841 Neighboring gene uncharacterized LOC100129098 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
Vesicoureteral reflux 3
MedGen: C3150927 OMIM: 613674 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Genome-wide association study of intracranial aneurysm identifies three new risk loci.
EBI GWAS Catalog
Susceptibility loci for intracranial aneurysm in European and Japanese populations.
EBI GWAS Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • FLJ22252

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in angiogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in angiogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cardiac cell fate determination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cardiogenic plate morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cell migration involved in gastrulation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
involved_in common bile duct development IEA
Inferred from Electronic Annotation
more info
 
involved_in embryonic foregut morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic heart tube development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in embryonic heart tube morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endocardium formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endoderm formation IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in endoderm formation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in endodermal cell fate determination IEA
Inferred from Electronic Annotation
more info
 
involved_in endodermal cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in endodermal digestive tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in gallbladder development IEA
Inferred from Electronic Annotation
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in heart development IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in heart development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in heart formation TAS
Traceable Author Statement
more info
PubMed 
involved_in heart looping ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in inner cell mass cellular morphogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in metanephros development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in negative regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of canonical Wnt signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in outflow tract morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of endodermal cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of stem cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in protein destabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein stabilization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of DNA-templated transcription ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cardiac cell fate specification ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of embryonic development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of stem cell division IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of stem cell proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in rostrocaudal neural tube patterning IEA
Inferred from Electronic Annotation
more info
 
involved_in signal transduction involved in regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in stem cell fate specification IEA
Inferred from Electronic Annotation
more info
 
involved_in ureter development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vasculogenesis IBA
Inferred from Biological aspect of Ancestor
more info
 
involved_in vasculogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
part_of 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)

NEW Try the new Transcript table

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

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060932.1 Alternate T2T-CHM13v2.0

    Range
    54835189..54838146
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)