Human Gene SOX7 (ENST00000304501.2) from GENCODE V44
  Description: Homo sapiens SRY-box transcription factor 7 (SOX7), mRNA. (from RefSeq NM_031439)
RefSeq Summary (NM_031439): 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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Gencode Transcript: ENST00000304501.2
Gencode Gene: ENSG00000171056.8
Transcript (Including UTRs)
   Position: hg38 chr8:10,723,768-10,730,511 Size: 6,744 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg38 chr8:10,725,738-10,730,433 Size: 4,696 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:10,723,768-10,730,511)mRNA (may differ from genome)Protein (388 aa)
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HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SOX7_HUMAN
DESCRIPTION: RecName: Full=Transcription factor SOX-7;
FUNCTION: Binds to and activates the CDH5 promoter, hence plays a role in the transcriptional regulation of genes expressed in the hemogenic endothelium and blocks further differentiation into blood precursors (By similarity). May be required for the survival of both hematopoietic and endothelial precursors during specification (By similarity). Competes with GATA4 for binding and activation of the FGF3 promoter (By similarity). Represses Wnt/beta-catenin-stimulated transcription, probably by targeting CTNNB1 to proteasomal degradation. Binds the DNA sequence 5'- AACAAT-3'.
SUBUNIT: Interacts with CTNNB1/beta-catenin; this interaction may lead to the proteasomal degradation of active CTNNB1 and thus inhibition of Wnt/beta-catenin-stimulated transcription.
SUBCELLULAR LOCATION: Nucleus (By similarity). Cytoplasm.
TISSUE SPECIFICITY: Widely expressed in adult and fetal tissues. Present both in mesenchymal and epithelial cells in some adult tissues, including colon. Tends to be down-regulated in prostate adenocarcinomas and colorectal tumors due to promoter hypermethylation.
DEVELOPMENTAL STAGE: In 8 week-old embryo, expressed in brain, tongue, heart, liver, lung and vertebrae.
SIMILARITY: Contains 1 HMG box DNA-binding domain.
SIMILARITY: Contains 1 Sox C-terminal domain.

-  Primer design for this transcript
 

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-  MalaCards Disease Associations
  MalaCards Gene Search: SOX7
Diseases sorted by gene-association score: uterine body mixed cancer (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.89 RPKM in Vagina
Total median expression: 104.76 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.3078-0.453 Picture PostScript Text
3' UTR -507.101970-0.257 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR009071 - HMG_superfamily
IPR021934 - Sox_C_TAD

Pfam Domains:
PF00505 - HMG (high mobility group) box
PF12067 - Sox 17/18 central domain

ModBase Predicted Comparative 3D Structure on Q9BT81
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding

Biological Process:
GO:0001706 endoderm formation
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0008285 negative regulation of cell proliferation
GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0060828 regulation of canonical Wnt signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm


-  Descriptions from all associated GenBank mRNAs
  AK296724 - Homo sapiens cDNA FLJ58508 complete cds, highly similar to Transcription factor SOX-7.
JD359364 - Sequence 340388 from Patent EP1572962.
JD302737 - Sequence 283761 from Patent EP1572962.
JD399531 - Sequence 380555 from Patent EP1572962.
JD247932 - Sequence 228956 from Patent EP1572962.
JD455763 - Sequence 436787 from Patent EP1572962.
JD508766 - Sequence 489790 from Patent EP1572962.
JD378460 - Sequence 359484 from Patent EP1572962.
JD153944 - Sequence 134968 from Patent EP1572962.
JD300310 - Sequence 281334 from Patent EP1572962.
JD482518 - Sequence 463542 from Patent EP1572962.
JD225062 - Sequence 206086 from Patent EP1572962.
JD206564 - Sequence 187588 from Patent EP1572962.
JD232889 - Sequence 213913 from Patent EP1572962.
JD340621 - Sequence 321645 from Patent EP1572962.
BC071947 - Homo sapiens SRY (sex determining region Y)-box 7, mRNA (cDNA clone MGC:88634 IMAGE:6459570), complete cds.
AK021564 - Homo sapiens cDNA FLJ11502 fis, clone HEMBA1002102.
AK055556 - Homo sapiens cDNA FLJ30994 fis, clone HLUNG1000076, highly similar to Mus musculus mRNA for mSox7.
JD534896 - Sequence 515920 from Patent EP1572962.
JD451731 - Sequence 432755 from Patent EP1572962.
JD534499 - Sequence 515523 from Patent EP1572962.
JD365252 - Sequence 346276 from Patent EP1572962.
JD139843 - Sequence 120867 from Patent EP1572962.
JD451732 - Sequence 432756 from Patent EP1572962.
JD522781 - Sequence 503805 from Patent EP1572962.
JD292454 - Sequence 273478 from Patent EP1572962.
JD170000 - Sequence 151024 from Patent EP1572962.
JD529583 - Sequence 510607 from Patent EP1572962.
JD557508 - Sequence 538532 from Patent EP1572962.
JD169999 - Sequence 151023 from Patent EP1572962.
JD529582 - Sequence 510606 from Patent EP1572962.
JD557507 - Sequence 538531 from Patent EP1572962.
JD430403 - Sequence 411427 from Patent EP1572962.
JD261672 - Sequence 242696 from Patent EP1572962.
JD326119 - Sequence 307143 from Patent EP1572962.
JD548600 - Sequence 529624 from Patent EP1572962.
JD169998 - Sequence 151022 from Patent EP1572962.
JD417998 - Sequence 399022 from Patent EP1572962.
JD063595 - Sequence 44619 from Patent EP1572962.
JD145549 - Sequence 126573 from Patent EP1572962.
JD319231 - Sequence 300255 from Patent EP1572962.
JD558244 - Sequence 539268 from Patent EP1572962.
JD564303 - Sequence 545327 from Patent EP1572962.
JD235866 - Sequence 216890 from Patent EP1572962.
JD340984 - Sequence 322008 from Patent EP1572962.
JD373422 - Sequence 354446 from Patent EP1572962.
JD179738 - Sequence 160762 from Patent EP1572962.
JD293931 - Sequence 274955 from Patent EP1572962.
JD370229 - Sequence 351253 from Patent EP1572962.
BC004299 - Homo sapiens SRY (sex determining region Y)-box 7, mRNA (cDNA clone IMAGE:3622936).
CQ873762 - Sequence 181 from Patent WO2004076622.
DD413599 - Regulation of Mammalian Cells.
JD517133 - Sequence 498157 from Patent EP1572962.
JD253728 - Sequence 234752 from Patent EP1572962.
JD488261 - Sequence 469285 from Patent EP1572962.
JD443556 - Sequence 424580 from Patent EP1572962.
JD368736 - Sequence 349760 from Patent EP1572962.
JD406793 - Sequence 387817 from Patent EP1572962.
JD104717 - Sequence 85741 from Patent EP1572962.
AK223574 - Homo sapiens mRNA for SRY-box 7 variant, clone: FCC129D05.
JD058734 - Sequence 39758 from Patent EP1572962.
AJ409320 - Homo sapiens mRNA for SOX7 protein.
BT006693 - Homo sapiens SRY (sex determining region Y)-box 7 mRNA, complete cds.
AB464717 - Synthetic construct DNA, clone: pF1KB8988, Homo sapiens SOX7 gene for SRY (sex determining region Y)-box 7, without stop codon, in Flexi system.
CU687196 - Synthetic construct Homo sapiens gateway clone IMAGE:100023108 5' read SOX7 mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9BT81 (Reactome details) participates in the following event(s):

R-HSA-5626938 Beta-catenin binds SOX proteins
R-HSA-3769402 Deactivation of the beta-catenin transactivating complex
R-HSA-201681 TCF dependent signaling in response to WNT
R-HSA-195721 Signaling by WNT
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000304501.1, NM_031439, Q53YD0, Q9BT81, SOX7_HUMAN, uc003wtf.1, uc003wtf.2, uc003wtf.3, uc003wtf.4, uc003wtf.5, uc003wtf.6
UCSC ID: ENST00000304501.2
RefSeq Accession: NM_031439
Protein: Q9BT81 (aka SOX7_HUMAN)
CCDS: CCDS5977.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.