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
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
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
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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
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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.
Gene Ontology (GO) Annotations with Structured Vocabulary
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.2UCSC ID: ENST00000293894.4_5RefSeq 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
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.