U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    SOX7 SRY-box transcription factor 7 [ Homo sapiens (human) ]

    Gene ID: 83595, updated on 16-Apr-2024

    Summary

    Go to the top of the page Help
    Official Symbol
    SOX7provided by HGNC
    Official Full Name
    SRY-box transcription factor 7provided by HGNC
    Primary source
    HGNC:HGNC:18196
    See related
    Ensembl:ENSG00000171056 MIM:612202; AllianceGenome:HGNC:18196
    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
    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. The protein may play a role in tumorigenesis. A similar protein in mice is involved in the regulation of the wingless-type MMTV integration site family (Wnt) pathway. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in placenta (RPKM 14.9), lung (RPKM 8.3) and 19 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    Location:
    8p23.1
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (10723768..10730511, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (9008562..9015305)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (10581278..10588021, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10535715-10536216 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10536217-10536716 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10536733-10537272 Neighboring gene microRNA 4286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10537273-10537810 Neighboring gene chromosome 8 open reading frame 74 Neighboring gene RNA, 5S ribosomal pseudogene 252 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10567701-10568468 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10568469-10569236 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18914 Neighboring gene uncharacterized LOC102723313 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18915 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:10589078-10589902 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10591664-10592306 Neighboring gene CRE3 CAGE-defined tissue-specific enhancer Neighboring gene ReSE screen-validated silencer GRCh37_chr8:10616720-10616853 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:10632670-10632869 Neighboring gene PIN2 (TERF1) interacting telomerase inhibitor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:10647506-10648006 Neighboring gene microRNA 1322 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:10697101-10697601 Neighboring gene PINX1 divergent transcript

    Genomic regions, transcripts, and products

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

    Go to the top of the pageHelp

    Related articles in PubMed

    1. SOX7 modulates the progression of hepatoblastoma through the regulation of Wnt/β-catenin signaling pathway. Ge J, et al. J Cancer Res Ther, 2022 Apr. PMID 35645102
    2. SOX7 blocks vasculogenic mimicry in oral squamous cell carcinoma. Hong KO, et al. J Oral Pathol Med, 2021 Sep. PMID 33733517
    3. SOX7 regulates MAPK/ERK-BIM mediated apoptosis in cancer cells. Sun QY, et al. Oncogene, 2019 Aug. PMID 31332289
    4. SOX7 methylation is an independent prognostic factor in myelodysplastic syndromes. Xu ZJ, et al. Pathol Res Pract, 2019 Feb. PMID 30554866
    5. Sox7 negatively regulates prostate-specific membrane antigen (PSMA) expression through PSMA-enhancer. Peng W, et al. Prostate, 2019 Mar. PMID 30488457, Free PMC Article

    See all (68) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Downregulation of SETDB1 suppresses epithelial mesenchymal transition and invasion and metastasis in oral cancer via SOX7 methylation].
      Title: [Downregulation of SETDB1 suppresses epithelial mesenchymal transition and invasion and metastasis in oral cancer via SOX7 methylation].
    2. The blood vasculature instructs lymphatic patterning in a SOX7-dependent manner.
      Title: The blood vasculature instructs lymphatic patterning in a SOX7-dependent manner.
    3. The mechanism by which crocetin regulates the lncRNA NEAT1/miR-125b-5p/SOX7 molecular axis to inhibit high glucose-induced diabetic retinopathy.
      Title: The mechanism by which crocetin regulates the lncRNA NEAT1/miR-125b-5p/SOX7 molecular axis to inhibit high glucose-induced diabetic retinopathy.
    4. SOX7 modulates the progression of hepatoblastoma through the regulation of Wnt/beta-catenin signaling pathway.
      Title: SOX7 modulates the progression of hepatoblastoma through the regulation of Wnt/β-catenin signaling pathway.
    5. Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4.
      Title: Predisposition to atrioventricular septal defects may be caused by SOX7 variants that impair interaction with GATA4.
    6. CircUBQLN1 Promotes Proliferation but Inhibits Apoptosis and Oxidative Stress of Hippocampal Neurons in Epilepsy via the miR-155-Mediated SOX7 Upregulation.
      Title: CircUBQLN1 Promotes Proliferation but Inhibits Apoptosis and Oxidative Stress of Hippocampal Neurons in Epilepsy via the miR-155-Mediated SOX7 Upregulation.
    7. A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity.
      Title: A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity.
    8. Endothelial deletion of SHP2 suppresses tumor angiogenesis and promotes vascular normalization.
      Title: Endothelial deletion of SHP2 suppresses tumor angiogenesis and promotes vascular normalization.
    9. The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling.
      Title: The transcription factor Sox7 modulates endocardiac cushion formation contributed to atrioventricular septal defect through Wnt4/Bmp2 signaling.
    10. SOX7 blocks vasculogenic mimicry in oral squamous cell carcinoma.
      Title: SOX7 blocks vasculogenic mimicry in oral squamous cell carcinoma.
    Submit: New GeneRIF Correction See all GeneRIFs (52)

    Phenotypes

    Go to the top of the page Help

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

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
    EBI GWAS Catalog

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

    Go to the top of the page

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    Markers

    Potential readthrough

    Included gene: PINX1

    Homology

    Clone Names

    • FLJ58508, MGC10895

    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 factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables transcription cis-regulatory region binding ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoderm formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in negative regulation of cell population proliferation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of cysteine-type endopeptidase activity involved in apoptotic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of canonical Wnt signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 

    General protein information

    Go to the top of the page Help
    Preferred Names
    transcription factor SOX-7
    Names
    SRY (sex determining region Y)-box 7
    SRY-box 7

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    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_053010.1 RefSeqGene

      Range
      5064..11807
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_031439.4 → NP_113627.1  transcription factor SOX-7

      See identical proteins and their annotated locations for NP_113627.1

      Status: REVIEWED

      Source sequence(s)
      AC105001, BC004299, HY089489
      Consensus CDS
      CCDS5977.1
      UniProtKB/Swiss-Prot
      B4DKV0, Q53YD0, Q9BT81
      UniProtKB/TrEMBL
      Q53ER5
      Related
      ENSP00000301921.1, ENST00000304501.2
      Conserved Domains (2) summary
      cd01388
      Location:44 → 115
      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:198 → 386
      Sox_C_TAD; Sox C-terminal transactivation domain

    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
      10723768..10730511 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_018654717.1 Reference GRCh38.p14 PATCHES

      Range
      2616667..2623410
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      9008562..9015305
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BT81.1 GenPept UniProtKB/Swiss-Prot:Q9BT81

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous