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

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: mouse all
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Genomic context

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Direct programming of human pluripotent stem cells into endothelial progenitors with SOX17 and FGF2.
Title: Direct programming of human pluripotent stem cells into endothelial progenitors with SOX17 and FGF2.
SOX17 enables immune evasion of early colorectal adenomas and cancers.
Title: SOX17 enables immune evasion of early colorectal adenomas and cancers.
SOX17/ETV2 improves the direct reprogramming of adult fibroblasts to endothelial cells.
Title: SOX17/ETV2 improves the direct reprogramming of adult fibroblasts to endothelial cells.
E2F1 Mediates SOX17 Deficiency-Induced Pulmonary Hypertension.
Title: E2F1 Mediates SOX17 Deficiency-Induced Pulmonary Hypertension.
An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants.
Title: An emerging phenotype of pulmonary arterial hypertension patients carrying SOX17 variants.
The dynamic expression of SOX17 in germ cells from human female foetus and adult ovaries after specification.
Title: The dynamic expression of SOX17 in germ cells from human female foetus and adult ovaries after specification.
SOX17 is a Critical Factor in Maintaining Endothelial Function in Pulmonary Hypertension by an Exosome-Mediated Autocrine Manner.
Title: SOX17 is a Critical Factor in Maintaining Endothelial Function in Pulmonary Hypertension by an Exosome-Mediated Autocrine Manner.
Dysregulation of SOX17/NRF2 axis confers chemoradiotherapy resistance and emerges as a novel therapeutic target in esophageal squamous cell carcinoma.
Title: Dysregulation of SOX17/NRF2 axis confers chemoradiotherapy resistance and emerges as a novel therapeutic target in esophageal squamous cell carcinoma.
CUX2/KDM5B/SOX17 Axis Affects the Occurrence and Development of Breast Cancer.
Title: CUX2/KDM5B/SOX17 Axis Affects the Occurrence and Development of Breast Cancer.
Differential expression of preferentially expressed antigen in melanoma (PRAME) in testicular germ cell tumors - A comparative study with SOX17.
Title: Differential expression of preferentially expressed antigen in melanoma (PRAME) in testicular germ cell tumors - A comparative study with SOX17.

Submit: New GeneRIF Correction See all GeneRIFs (96)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 EBI GWAS CatalogPubMed
Genome-wide association study of intracranial aneurysm identifies three new risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Susceptibility loci for intracranial aneurysm in European and Japanese populations. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables beta-catenin binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	ISS Inferred from Sequence or Structural Similarity more info

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

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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)

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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.