Human Gene SP6 (uc002img.2)
  Description: Homo sapiens Sp6 transcription factor (SP6), transcript variant 1, mRNA.
RefSeq Summary (NM_001258248): SP6 belongs to a family of transcription factors that contain 3 classical zinc finger DNA-binding domains consisting of a zinc atom tetrahedrally coordinated by 2 cysteines and 2 histidines (C2H2 motif). These transcription factors bind to GC-rich sequences and related GT and CACCC boxes (Scohy et al., 2000 [PubMed 11087666]).[supplied by OMIM, Mar 2008].
Transcript (Including UTRs)
   Position: hg19 chr17:45,922,280-45,928,516 Size: 6,237 Total Exon Count: 2 Strand: -
Coding Region
   Position: hg19 chr17:45,924,665-45,925,795 Size: 1,131 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:45,922,280-45,928,516)mRNA (may differ from genome)Protein (376 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SP6_HUMAN
DESCRIPTION: RecName: Full=Transcription factor Sp6; AltName: Full=Krueppel-like factor 14;
FUNCTION: Promotes cell proliferation (By similarity).
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the Sp1 C2H2-type zinc-finger protein family.
SIMILARITY: Contains 3 C2H2-type zinc fingers.

-  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): SP6
CDC HuGE Published Literature: SP6

-  MalaCards Disease Associations
  MalaCards Gene Search: SP6
Diseases sorted by gene-association score: hermansky-pudlak syndrome 6 (4), bladder neck obstruction (2), premenstrual tension (1)

-  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: 9.66 RPKM in Skin - Sun Exposed (Lower leg)
Total median expression: 45.51 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 -116.10289-0.402 Picture PostScript Text
3' UTR -1031.482385-0.432 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
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF13894 - C2H2-type zinc finger
PF13912 - C2H2-type zinc finger

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on Q3SY56
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 Details     
Gene Sorter     
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0046872 metal ion 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:0008284 positive regulation of cell proliferation
GO:0042481 regulation of odontogenesis

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK127707 - Homo sapiens cDNA FLJ45807 fis, clone NT2RI3009480, highly similar to Transcription factor Sp6.
AK127850 - Homo sapiens cDNA FLJ45953 fis, clone PLACE7009757, highly similar to Transcription factor Sp6.
BC103951 - Homo sapiens Sp6 transcription factor, mRNA (cDNA clone MGC:119662 IMAGE:40011121), complete cds.
BC103952 - Homo sapiens Sp6 transcription factor, mRNA (cDNA clone MGC:119663 IMAGE:40011125), complete cds.
BC103953 - Homo sapiens Sp6 transcription factor, mRNA (cDNA clone MGC:119664 IMAGE:40011129), complete cds.
BC103954 - Homo sapiens Sp6 transcription factor, mRNA (cDNA clone MGC:119665 IMAGE:40011132), complete cds.
KJ894814 - Synthetic construct Homo sapiens clone ccsbBroadEn_04208 SP6 gene, encodes complete protein.
AB464709 - Synthetic construct DNA, clone: pF1KB9848, Homo sapiens SP6 gene for Sp6 transcription factor, without stop codon, in Flexi system.

-  Other Names for This Gene
  Alternate Gene Symbols: B3KXS4, KLF14, NM_001258248, NP_954871, Q3SY56, SP6_HUMAN, uc002img.1
UCSC ID: uc002img.2
RefSeq Accession: NM_001258248
Protein: Q3SY56 (aka SP6_HUMAN)
CCDS: CCDS11520.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001258248.1
exon count: 2CDS single in 3' UTR: no RNA size: 3805
ORF size: 1131CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2453.00frame shift in genome: no % Coverage: 100.00
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.