Human Gene SOX8 (ENST00000293894.4_5) from GENCODE V47lift37
  Description: SRY-box transcription factor 8 (from RefSeq NM_014587.5)
Gencode Transcript: ENST00000293894.4_5
Gencode Gene: ENSG00000005513.11_8
Transcript (Including UTRs)
   Position: hg19 chr16:1,031,770-1,036,979 Size: 5,210 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr16:1,031,923-1,035,386 Size: 3,464 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:1,031,770-1,036,979)mRNA (may differ from genome)Protein (446 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SOX8_HUMAN
DESCRIPTION: RecName: Full=Transcription factor SOX-8;
FUNCTION: May play a role in central nervous system, limb and facial development. May be involved in male sex determination. Binds the consensus motif 5'-[AT][AT]CAA[AT]G-3' (By similarity).
SUBCELLULAR LOCATION: Nucleus (Potential).
SIMILARITY: Contains 1 HMG box DNA-binding domain.
SEQUENCE CAUTION: Sequence=CAB75612.1; Type=Erroneous initiation;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SOX8
Diseases sorted by gene-association score: alpha thalassemia-intellectual disability syndrome type 1 (12), myoblastoma (11), campomelic dysplasia (6), hemoglobin h disease, nondeletional (5)

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

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 52.76 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 471.59 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 -98.90153-0.646 Picture PostScript Text
3' UTR -628.001593-0.394 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
IPR022151 - Sox_N

Pfam Domains:
PF00505 - HMG (high mobility group) box
PF09011 - HMG-box domain
PF12444 - Sox developmental protein N terminal

SCOP Domains:
47095 - HMG-box

ModBase Predicted Comparative 3D Structure on P57073
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  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
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000979 RNA polymerase II core promoter sequence-specific DNA binding
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:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0001649 osteoblast differentiation
GO:0001701 in utero embryonic development
GO:0001755 neural crest cell migration
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007165 signal transduction
GO:0007283 spermatogenesis
GO:0007422 peripheral nervous system development
GO:0008584 male gonad development
GO:0010628 positive regulation of gene expression
GO:0010817 regulation of hormone levels
GO:0014015 positive regulation of gliogenesis
GO:0033690 positive regulation of osteoblast proliferation
GO:0035914 skeletal muscle cell differentiation
GO:0043066 negative regulation of apoptotic process
GO:0045165 cell fate commitment
GO:0045444 fat cell differentiation
GO:0045662 negative regulation of myoblast differentiation
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046533 negative regulation of photoreceptor cell differentiation
GO:0048469 cell maturation
GO:0048484 enteric nervous system development
GO:0048709 oligodendrocyte differentiation
GO:0060009 Sertoli cell development
GO:0060018 astrocyte fate commitment
GO:0060041 retina development in camera-type eye
GO:0060221 retinal rod cell differentiation
GO:0060612 adipose tissue development
GO:0061138 morphogenesis of a branching epithelium
GO:0072034 renal vesicle induction
GO:0072197 ureter morphogenesis
GO:0072289 metanephric nephron tubule formation
GO:0090184 positive regulation of kidney development
GO:0090190 positive regulation of branching involved in ureteric bud morphogenesis

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0044798 nuclear transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  LF210739 - JP 2014500723-A/18242: Polycomb-Associated Non-Coding RNAs.
LF212699 - JP 2014500723-A/20202: Polycomb-Associated Non-Coding RNAs.
LF213403 - JP 2014500723-A/20906: Polycomb-Associated Non-Coding RNAs.
DL491769 - Novel nucleic acids.
BC031797 - Homo sapiens SRY (sex determining region Y)-box 8, mRNA (cDNA clone MGC:24837 IMAGE:4937883), complete cds.
AB464249 - Synthetic construct DNA, clone: pF1KB7755, Homo sapiens SOX8 gene for SRY (sex determining region Y)-box 8, without stop codon, in Flexi system.
KJ898768 - Synthetic construct Homo sapiens clone ccsbBroadEn_08162 SOX8 gene, encodes complete protein.
AF226675 - Homo sapiens transcription factor SOX8 mRNA, complete cds.
AK024491 - Homo sapiens mRNA for FLJ00094 protein, partial cds.
AF164104 - Homo sapiens transcription factor SOX8 (SOX8) mRNA, partial cds.
JD481759 - Sequence 462783 from Patent EP1572962.
JD347054 - Sequence 328078 from Patent EP1572962.
JD525639 - Sequence 506663 from Patent EP1572962.
JD262870 - Sequence 243894 from Patent EP1572962.
JD174647 - Sequence 155671 from Patent EP1572962.
JD474562 - Sequence 455586 from Patent EP1572962.
JD380841 - Sequence 361865 from Patent EP1572962.
JD155747 - Sequence 136771 from Patent EP1572962.
JD226891 - Sequence 207915 from Patent EP1572962.
JD232741 - Sequence 213765 from Patent EP1572962.
JD226827 - Sequence 207851 from Patent EP1572962.
JD145073 - Sequence 126097 from Patent EP1572962.
JD553371 - Sequence 534395 from Patent EP1572962.
JD291679 - Sequence 272703 from Patent EP1572962.
JD533478 - Sequence 514502 from Patent EP1572962.
JD343625 - Sequence 324649 from Patent EP1572962.
JD483339 - Sequence 464363 from Patent EP1572962.
JD475060 - Sequence 456084 from Patent EP1572962.
JD452968 - Sequence 433992 from Patent EP1572962.
JD075876 - Sequence 56900 from Patent EP1572962.
JD403543 - Sequence 384567 from Patent EP1572962.
JD325102 - Sequence 306126 from Patent EP1572962.
JD437631 - Sequence 418655 from Patent EP1572962.
JD265466 - Sequence 246490 from Patent EP1572962.
JD270128 - Sequence 251152 from Patent EP1572962.
JD373674 - Sequence 354698 from Patent EP1572962.
JD329665 - Sequence 310689 from Patent EP1572962.
JD110357 - Sequence 91381 from Patent EP1572962.
JD039572 - Sequence 20596 from Patent EP1572962.
JD408131 - Sequence 389155 from Patent EP1572962.
JD256369 - Sequence 237393 from Patent EP1572962.
JD200481 - Sequence 181505 from Patent EP1572962.
JD307478 - Sequence 288502 from Patent EP1572962.
MA446316 - JP 2018138019-A/18242: Polycomb-Associated Non-Coding RNAs.
MA448276 - JP 2018138019-A/20202: Polycomb-Associated Non-Coding RNAs.
MA448980 - JP 2018138019-A/20906: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000293894.1, ENST00000293894.2, ENST00000293894.3, NM_014587, P57073, Q9NZW2, SOX8 , SOX8_HUMAN, uc317lfj.1, uc317lfj.2
UCSC ID: ENST00000293894.4_5
RefSeq Accession: NM_014587.5
Protein: P57073 (aka SOX8_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SOX8:
gonad-dys-46xy (Nonsyndromic Disorders of Testicular Development Overview)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

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