Human Gene SOX14 (uc003erm.2)
  Description: Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.
RefSeq Summary (NM_004189): This intronless 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. Mutations in this gene are suggested to be responsible for the limb defects associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) and Mobius syndrome. [provided by RefSeq, Jul 2008]. Sequence Note: The RefSeq transcript was derived from the reference genome assembly. The genomic coordinates were determined from alignments.
Transcript (Including UTRs)
   Position: hg19 chr3:137,483,134-137,485,172 Size: 2,039 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr3:137,483,627-137,484,349 Size: 723 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:137,483,134-137,485,172)mRNA (may differ from genome)Protein (240 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkHGNCHPRDLynxMGIneXtProt
OMIMPubMedTreefamUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SOX14_HUMAN
DESCRIPTION: RecName: Full=Transcription factor SOX-14; AltName: Full=Protein SOX-28;
FUNCTION: Acts as a negative regulator of transcription (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Contains 1 HMG box DNA-binding domain.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): SOX14
CDC HuGE Published Literature: SOX14

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 0.32 RPKM in Brain - Hypothalamus
Total median expression: 0.66 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 -211.40493-0.429 Picture PostScript Text
3' UTR -237.70823-0.289 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
IPR022097 - TF_SOX

Pfam Domains:
PF00505 - HMG (high mobility group) box
PF09011 - HMG-box domain
PF12336 - SOX transcription factor

SCOP Domains:
47095 - HMG-box

ModBase Predicted Comparative 3D Structure on O95416
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 orthologGenome BrowserGenome BrowserNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details  Gene Details 
Gene SorterGene Sorter  Gene Sorter 
 RGDEnsembl WormBase 
 Protein SequenceProtein Sequence Protein Sequence 
 AlignmentAlignment Alignment 

-  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:0003682 chromatin binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007399 nervous system development
GO:0007601 visual perception
GO:0009649 entrainment of circadian clock
GO:0045892 negative regulation of transcription, DNA-templated
GO:2001222 regulation of neuron migration

Cellular Component:
GO:0005575 cellular_component
GO:0005634 nucleus
GO:0044798 nuclear transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AK314127 - Homo sapiens cDNA, FLJ94824, Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.
BC106729 - Homo sapiens SRY (sex determining region Y)-box 14, mRNA (cDNA clone MGC:119898 IMAGE:40015392), complete cds.
BC106730 - Homo sapiens SRY (sex determining region Y)-box 14, mRNA (cDNA clone MGC:119899 IMAGE:40015393), complete cds.
JD395324 - Sequence 376348 from Patent EP1572962.
KJ892527 - Synthetic construct Homo sapiens clone ccsbBroadEn_01921 SOX14 gene, encodes complete protein.
KJ897840 - Synthetic construct Homo sapiens clone ccsbBroadEn_07234 SOX14 gene, encodes complete protein.
AB464714 - Synthetic construct DNA, clone: pF1KB9651, Homo sapiens SOX14 gene for SRY (sex determining region Y)-box 14, without stop codon, in Flexi system.
JD116552 - Sequence 97576 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B2RAC0, NM_004189, NP_004180, O95416, Q3KPH7, SOX14_HUMAN, SOX28
UCSC ID: uc003erm.2
RefSeq Accession: NM_004189
Protein: O95416 (aka SOX14_HUMAN or SX14_HUMAN)
CCDS: CCDS3094.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004189.3
exon count: 1CDS single in 3' UTR: no RNA size: 2043
ORF size: 723CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1634.00frame shift in genome: no % Coverage: 99.80
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.