Human Gene ZNF596 (uc003wot.3)
  Description: Homo sapiens zinc finger protein 596 (ZNF596), transcript variant 3, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr8:182,200-197,339 Size: 15,140 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr8:190,896-196,362 Size: 5,467 Coding Exon Count: 5 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:182,200-197,339)mRNA (may differ from genome)Protein (504 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
PubMedReactomeTreefamUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZN596_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 596;
FUNCTION: May be involved in transcriptional regulation.
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 11 C2H2-type zinc fingers.
SIMILARITY: Contains 1 KRAB domain.
SEQUENCE CAUTION: Sequence=AAD05197.1; Type=Erroneous gene model prediction; Sequence=BAG36241.1; 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): ZNF596
CDC HuGE Published Literature: ZNF596
Positive Disease Associations: Blood Coagulation Factors
Related Studies:
  1. Blood Coagulation Factors
    Qiong Yang et al. BMC medical genetics 2007, Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study., BMC medical genetics. [PubMed 17903294]
    Using genome-wide association methodology, we have successfully identified a SNP in complete LD with a sequence variant previously shown to be strongly associated with factor VII, providing proof of principle for this approach. Further study of additional strongly associated SNPs and linked regions may identify novel variants that influence the inter-individual variability in hemostatic factors and hematological phenotypes.

-  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: 7.09 RPKM in Testis
Total median expression: 100.65 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 -117.30288-0.407 Picture PostScript Text
3' UTR -222.24977-0.227 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
PF13894 - C2H2-type zinc finger
PF13912 - C2H2-type zinc finger

SCOP Domains:
48695 - Multiheme cytochromes
109640 - KRAB domain (Kruppel-associated box, Pfam 01352)
57667 - C2H2 and C2HC zinc fingers
57903 - FYVE/PHD zinc finger

ModBase Predicted Comparative 3D Structure on Q8TC21
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 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

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  AK093442 - Homo sapiens cDNA FLJ36123 fis, clone TESTI2022874, weakly similar to ZINC FINGER PROTEIN 135.
AX748129 - Sequence 1654 from Patent EP1308459.
AK313454 - Homo sapiens cDNA, FLJ93998, highly similar to Homo sapiens zinc finger protein 596 (ZNF596), mRNA.
BC026190 - Homo sapiens zinc finger protein 596, mRNA (cDNA clone MGC:33349 IMAGE:4837032), complete cds.
JD263270 - Sequence 244294 from Patent EP1572962.
JD146410 - Sequence 127434 from Patent EP1572962.
CU693158 - Synthetic construct Homo sapiens gateway clone IMAGE:100019685 5' read ZNF596 mRNA.
KJ903958 - Synthetic construct Homo sapiens clone ccsbBroadEn_13352 ZNF596 gene, encodes complete protein.
JD314816 - Sequence 295840 from Patent EP1572962.
JD314817 - Sequence 295841 from Patent EP1572962.
JD314816 - Sequence 295840 from Patent EP1572962.
JD314817 - Sequence 295841 from Patent EP1572962.
JD357327 - Sequence 338351 from Patent EP1572962.
JD101794 - Sequence 82818 from Patent EP1572962.
JD085437 - Sequence 66461 from Patent EP1572962.
JD257476 - Sequence 238500 from Patent EP1572962.
JD088451 - Sequence 69475 from Patent EP1572962.
JD133459 - Sequence 114483 from Patent EP1572962.
JD541041 - Sequence 522065 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q8TC21 (Reactome details) participates in the following event(s):

R-HSA-975040 KRAB-ZNF / KAP Interaction
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B2R8P4, NM_173539, NP_775810, O95015, Q8N9X0, Q8TC21, ZN596_HUMAN
UCSC ID: uc003wot.3
RefSeq Accession: NM_173539
Protein: Q8TC21 (aka ZN596_HUMAN)
CCDS: CCDS5951.2

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_173539.2
exon count: 6CDS single in 3' UTR: no RNA size: 2795
ORF size: 1515CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2813.00frame shift in genome: no % Coverage: 99.46
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.