Human Gene SOX5 (ENST00000451604.7) from GENCODE V44
  Description: Homo sapiens SRY-box transcription factor 5 (SOX5), transcript variant 1, mRNA. (from RefSeq NM_006940)
RefSeq Summary (NM_006940): 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 encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000451604.7
Gencode Gene: ENSG00000134532.20
Transcript (Including UTRs)
   Position: hg38 chr12:23,529,504-23,949,670 Size: 420,167 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg38 chr12:23,534,219-23,949,601 Size: 415,383 Coding Exon Count: 15 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:23,529,504-23,949,670)mRNA (may differ from genome)Protein (763 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGImyGene2
neXtProtOMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SOX5_HUMAN
DESCRIPTION: RecName: Full=Transcription factor SOX-5;
FUNCTION: Binds specifically to the DNA sequence 5'-AACAAT-3'. Activates transcription of COL2A1 and AGC1 in vitro.
INTERACTION: O15266:SHOX; NbExp=2; IntAct=EBI-3505701, EBI-3505698;
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Contains 1 HMG box DNA-binding domain.
SEQUENCE CAUTION: Sequence=AAB49537.1; 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: SOX5
Diseases sorted by gene-association score: lamb-shaffer syndrome* (1294), intellectual disability (2)
* = Manually curated disease association

-  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: 7.14 RPKM in Testis
Total median expression: 59.24 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 -13.8069-0.200 Picture PostScript Text
3' UTR -1074.904715-0.228 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

Pfam Domains:
PF00505 - HMG (high mobility group) box

ModBase Predicted Comparative 3D Structure on P35711
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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
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  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:0005515 protein binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0032332 positive regulation of chondrocyte differentiation
GO:0055059 asymmetric neuroblast division
GO:0061036 positive regulation of cartilage development
GO:0071560 cellular response to transforming growth factor beta stimulus
GO:2000741 positive regulation of mesenchymal stem cell differentiation

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AB081588 - Homo sapiens mRNA for L-SOX5 transcript B, complete cds.
JX570584 - Homo sapiens transcription factor SOX-5 variant 6 (SOX5) mRNA, complete cds, alternatively spliced.
JX570585 - Homo sapiens transcription factor SOX-5 variant 7 (SOX5) mRNA, complete cds, alternatively spliced.
BC060773 - Homo sapiens SRY (sex determining region Y)-box 5, mRNA (cDNA clone MGC:71528 IMAGE:30343519), complete cds.
AB081589 - Homo sapiens mRNA for L-SOX5 transcript A, complete cds.
AK096569 - Homo sapiens cDNA FLJ39250 fis, clone OCBBF2008691, highly similar to Transcription factor SOX-5.
BC065532 - Homo sapiens cDNA clone IMAGE:6161671, containing frame-shift errors.
AK074317 - Homo sapiens cDNA FLJ23737 fis, clone HEP14950, highly similar to Mus musculus mSox5L mRNA.
AK303970 - Homo sapiens cDNA FLJ55909 complete cds, highly similar to Transcription factor SOX-5.
JF432406 - Synthetic construct Homo sapiens clone IMAGE:100073608 SRY (sex determining region Y)-box 5 (SOX5) gene, encodes complete protein.
KJ901755 - Synthetic construct Homo sapiens clone ccsbBroadEn_11149 SOX5 gene, encodes complete protein.
AK299607 - Homo sapiens cDNA FLJ55780 complete cds, highly similar to Transcription factor SOX-5.
CU687410 - Synthetic construct Homo sapiens gateway clone IMAGE:100021259 5' read SOX5 mRNA.
BC014929 - Homo sapiens SRY (sex determining region Y)-box 5, mRNA (cDNA clone IMAGE:3919439), with apparent retained intron.
JD491751 - Sequence 472775 from Patent EP1572962.
JD180412 - Sequence 161436 from Patent EP1572962.
JD333441 - Sequence 314465 from Patent EP1572962.
JD067039 - Sequence 48063 from Patent EP1572962.
JD262629 - Sequence 243653 from Patent EP1572962.
JD088375 - Sequence 69399 from Patent EP1572962.
JD148954 - Sequence 129978 from Patent EP1572962.
JD315600 - Sequence 296624 from Patent EP1572962.
JD048521 - Sequence 29545 from Patent EP1572962.
JD305875 - Sequence 286899 from Patent EP1572962.
S83308 - SOX5=Sry-related HMG box gene {alternatively spliced} [human, testis, mRNA, 1473 nt].
BC047665 - Homo sapiens SRY (sex determining region Y)-box 5, mRNA (cDNA clone IMAGE:5743782), partial cds.
BC029220 - Homo sapiens SRY (sex determining region Y)-box 5, mRNA (cDNA clone IMAGE:5169548), partial cds.
BC035227 - Homo sapiens SRY (sex determining region Y)-box 5, mRNA (cDNA clone IMAGE:5164043), partial cds.
JD246069 - Sequence 227093 from Patent EP1572962.
AK223536 - Homo sapiens mRNA for SRY (sex determining region Y)-box 5 isoform c variant, clone: FCC125A06.
AK098610 - Homo sapiens cDNA FLJ25744 fis, clone TST06001, highly similar to TRANSCRIPTION FACTOR SOX-5.
JD111091 - Sequence 92115 from Patent EP1572962.
JA483743 - Sequence 51 from Patent EP2303292.
JD236577 - Sequence 217601 from Patent EP1572962.
JD160227 - Sequence 141251 from Patent EP1572962.
CR456713 - Homo sapiens full open reading frame cDNA clone RZPDo834G073D for gene SOX5, SRY (sex determining region Y)-box 5; complete cds, incl. stopcodon.
X65662 - H.sapiens Sox-5 mRNA.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000451604.1, ENST00000451604.2, ENST00000451604.3, ENST00000451604.4, ENST00000451604.5, ENST00000451604.6, NM_006940, P35711, Q86UK8, Q8J017, Q8J018, Q8J019, Q8J020, Q8N1D9, Q8N7E0, Q8TEA4, SOX5_HUMAN, uc001rfw.1, uc001rfw.2, uc001rfw.3, uc001rfw.4, uc001rfw.5
UCSC ID: ENST00000451604.7
RefSeq Accession: NM_006940
Protein: P35711 (aka SOX5_HUMAN)
CCDS: CCDS8699.1, CCDS44844.1, CCDS58217.1, CCDS81672.1

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