Human Gene ZNF717 (uc011bgi.2)
  Description: Homo sapiens zinc finger protein 717 (ZNF717), mRNA.
RefSeq Summary (NM_001128223): This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016].
Transcript (Including UTRs)
   Position: hg19 chr3:75,786,029-75,834,255 Size: 48,227 Total Exon Count: 5 Strand: -
Coding Region
   Position: hg19 chr3:75,786,029-75,832,513 Size: 46,485 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:75,786,029-75,834,255)mRNA (may differ from genome)Protein (914 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIOMIM
PubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: C9JSV9_HUMAN
DESCRIPTION: SubName: Full=Zinc finger protein 717;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  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): ZNF717
CDC HuGE Published Literature: ZNF717
Positive Disease Associations: Blood Pressure , Calcium-Binding Proteins , Carotid Artery Diseases , Cell Adhesion Molecules , Cholesterol , Cholesterol, LDL , Diabetes Mellitus , Eosinophils , Erythrocyte Indices , Fibrinogen , Frontal Lobe , Hippocampus , Hypertrophy, Left Ventricular , Memory
Related Studies:
  1. Blood Pressure
    , , . [PubMed 0]
  2. Calcium-Binding Proteins
    Emelia J Benjamin et al. BMC medical genetics 2007, Genome-wide association with select biomarker traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903293]
    The Framingham GWAS represents a resource to describe potentially novel genetic influences on systemic biomarker variability. The newly described associations will need to be replicated in other studies.
  3. Carotid Artery Diseases
    Christopher J O'Donnell et al. BMC medical genetics 2007, Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study., BMC medical genetics. [PubMed 17903303]
    The results from this GWAS generate hypotheses regarding several SNPs that may be associated with SCA phenotypes in multiple arterial beds. Given the number of tests conducted, subsequent independent replication in a staged approach is essential to identify genetic variants that may be implicated in atherosclerosis.
           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: 2.09 RPKM in Testis
Total median expression: 49.29 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 -96.40323-0.298 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
IPR001909 - Krueppel-associated_box
IPR007087 - Znf_C2H2
IPR015880 - Znf_C2H2-like
IPR013087 - Znf_C2H2/integrase_DNA-bd

Pfam Domains:
PF00096 - Zinc finger, C2H2 type
PF01352 - KRAB box
PF13912 - C2H2-type zinc finger

SCOP Domains:
48695 - Multiheme cytochromes
109640 - KRAB domain (Kruppel-associated box, Pfam 01352)
57667 - C2H2 and C2HC zinc fingers

ModBase Predicted Comparative 3D Structure on C9JSV9
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
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AK123776 - Homo sapiens cDNA FLJ41782 fis, clone IMR322018192, weakly similar to ZINC FINGER PROTEIN 90.
JD032199 - Sequence 13223 from Patent EP1572962.
JD382093 - Sequence 363117 from Patent EP1572962.
AF226994 - Homo sapiens kruppel-like zinc finger factor X17 mRNA, partial cds.
JD370004 - Sequence 351028 from Patent EP1572962.
LF375855 - JP 2014500723-A/183358: Polycomb-Associated Non-Coding RNAs.
LF375856 - JP 2014500723-A/183359: Polycomb-Associated Non-Coding RNAs.
LF360009 - JP 2014500723-A/167512: Polycomb-Associated Non-Coding RNAs.
LF360010 - JP 2014500723-A/167513: Polycomb-Associated Non-Coding RNAs.
LF375857 - JP 2014500723-A/183360: Polycomb-Associated Non-Coding RNAs.
LF360011 - JP 2014500723-A/167514: Polycomb-Associated Non-Coding RNAs.
JD287892 - Sequence 268916 from Patent EP1572962.
JD056717 - Sequence 37741 from Patent EP1572962.
MA611432 - JP 2018138019-A/183358: Polycomb-Associated Non-Coding RNAs.
MA611433 - JP 2018138019-A/183359: Polycomb-Associated Non-Coding RNAs.
MA595586 - JP 2018138019-A/167512: Polycomb-Associated Non-Coding RNAs.
MA595587 - JP 2018138019-A/167513: Polycomb-Associated Non-Coding RNAs.
MA611434 - JP 2018138019-A/183360: Polycomb-Associated Non-Coding RNAs.
MA595588 - JP 2018138019-A/167514: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: C9JSV9, C9JSV9_HUMAN, NM_001128223, NP_001121695
UCSC ID: uc011bgi.2
RefSeq Accession: NM_001128223
Protein: C9JSV9

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001128223.1
exon count: 5CDS single in 3' UTR: no RNA size: 3068
ORF size: 2745CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2858.50frame 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.