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

    Gene ID: 64321, updated on 30-Apr-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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Location:
    8q11.23
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (54457935..54460892)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (54835189..54838146)
    105.20220307 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
    part_of 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_2023_10

    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)