Human Gene ZNF516 (uc021ulp.1)
  Description: Homo sapiens zinc finger protein 516 (ZNF516), mRNA.
RefSeq Summary (NM_014643): Zinc-finger proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation, and apoptosis. This gene encodes a zinc-finger protein, and belongs to the krueppel C2H2-type zinc-finger protein family. It may be involved in transcriptional regulation. [provided by RefSeq, Sep 2012]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.
Transcript (Including UTRs)
   Position: hg19 chr18:74,069,637-74,207,146 Size: 137,510 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr18:74,074,453-74,155,010 Size: 80,558 Coding Exon Count: 6 

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 (chr18:74,069,637-74,207,146)mRNA (may differ from genome)Protein (1163 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: ZN516_HUMAN
DESCRIPTION: RecName: Full=Zinc finger protein 516;
FUNCTION: May be involved in transcriptional regulation.
SUBCELLULAR LOCATION: Nucleus (Probable).
SIMILARITY: Belongs to the krueppel C2H2-type zinc-finger protein family.
SIMILARITY: Contains 10 C2H2-type zinc fingers.
SEQUENCE CAUTION: Sequence=BAA13211.2; 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): ZNF516
CDC HuGE Published Literature: ZNF516
Positive Disease Associations: Blood Pressure Determination , Heart Rate , Longevity
Related Studies:
  1. Blood Pressure Determination
    , , . [PubMed 0]
  2. Heart Rate
    , , . [PubMed 0]
  3. Longevity
    Anatoliy I Yashin et al. Aging 2010, Joint influence of small-effect genetic variants on human longevity., Aging. [PubMed 20834067]
           more ... click here to view the complete list

-  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: 27.06 RPKM in Cervix - Endocervix
Total median expression: 311.90 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 -124.80318-0.392 Picture PostScript Text
3' UTR -1530.314816-0.318 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
PF13909 - C2H2-type zinc-finger domain
PF13912 - C2H2-type zinc finger
PF13913 - zinc-finger of a C2HC-type

SCOP Domains:
57667 - C2H2 and C2HC zinc fingers
57716 - Glucocorticoid receptor-like (DNA-binding domain)

ModBase Predicted Comparative 3D Structure on Q92618
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 orthologGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
  Ensembl   
  Protein Sequence   
  Alignment   

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0000987 core promoter proximal region sequence-specific DNA binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0033613 activating transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region 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:0006366 transcription from RNA polymerase II promoter
GO:0007165 signal transduction
GO:0007275 multicellular organism development
GO:0009409 response to cold
GO:0045893 positive regulation of transcription, DNA-templated
GO:0050873 brown fat cell differentiation
GO:0060612 adipose tissue development

Cellular Component:
GO:0005634 nucleus


-  Descriptions from all associated GenBank mRNAs
  D86975 - Homo sapiens mRNA for KIAA0222 gene.
JD048820 - Sequence 29844 from Patent EP1572962.
JD302930 - Sequence 283954 from Patent EP1572962.
JD288345 - Sequence 269369 from Patent EP1572962.
JD305657 - Sequence 286681 from Patent EP1572962.
JD342710 - Sequence 323734 from Patent EP1572962.
JD369727 - Sequence 350751 from Patent EP1572962.
JD469601 - Sequence 450625 from Patent EP1572962.
JD338875 - Sequence 319899 from Patent EP1572962.
JD234336 - Sequence 215360 from Patent EP1572962.
D16475 - Homo sapiens mRNA, trinucleotide repeat sequence.
JD557032 - Sequence 538056 from Patent EP1572962.
JD290108 - Sequence 271132 from Patent EP1572962.
JD220730 - Sequence 201754 from Patent EP1572962.
JD415987 - Sequence 397011 from Patent EP1572962.
JD386657 - Sequence 367681 from Patent EP1572962.
JD130608 - Sequence 111632 from Patent EP1572962.
JD367454 - Sequence 348478 from Patent EP1572962.
BC113085 - Homo sapiens cDNA clone IMAGE:40071618.
BC113086 - Homo sapiens cDNA clone IMAGE:40071619.
BC128041 - Homo sapiens cDNA clone IMAGE:40071623.
JD093195 - Sequence 74219 from Patent EP1572962.
JD266078 - Sequence 247102 from Patent EP1572962.
JD442160 - Sequence 423184 from Patent EP1572962.
JD064218 - Sequence 45242 from Patent EP1572962.
JD344998 - Sequence 326022 from Patent EP1572962.
JD242496 - Sequence 223520 from Patent EP1572962.
BC108287 - Homo sapiens zinc finger protein 516, mRNA (cDNA clone IMAGE:3872546), partial cds.
JD083908 - Sequence 64932 from Patent EP1572962.
JD369187 - Sequence 350211 from Patent EP1572962.
JD331564 - Sequence 312588 from Patent EP1572962.
JD451154 - Sequence 432178 from Patent EP1572962.
JD345847 - Sequence 326871 from Patent EP1572962.
JD434548 - Sequence 415572 from Patent EP1572962.
AB383809 - Synthetic construct DNA, clone: pF1KSDA0222, Homo sapiens ZNF516 gene for zinc finger protein 516, complete cds, without stop codon, in Flexi system.
JC587872 - Sequence 3363 from Patent EP2736539.
JC590053 - Sequence 5544 from Patent EP2736539.
JC592234 - Sequence 7725 from Patent EP2736539.
JC590052 - Sequence 5543 from Patent EP2736539.
JC592232 - Sequence 7723 from Patent EP2736539.
JC592233 - Sequence 7724 from Patent EP2736539.
JC594410 - Sequence 9901 from Patent EP2736539.
JC594411 - Sequence 9902 from Patent EP2736539.
JC594412 - Sequence 9903 from Patent EP2736539.
JC587871 - Sequence 3362 from Patent EP2736539.
JC590051 - Sequence 5542 from Patent EP2736539.
JC592231 - Sequence 7722 from Patent EP2736539.
JD129473 - Sequence 110497 from Patent EP1572962.
JD437932 - Sequence 418956 from Patent EP1572962.
JD099571 - Sequence 80595 from Patent EP1572962.
JD124228 - Sequence 105252 from Patent EP1572962.
JD295838 - Sequence 276862 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: KIAA0222, NM_014643, NP_055458, Q92618, ZN516_HUMAN
UCSC ID: uc021ulp.1
RefSeq Accession: NM_014643
Protein: Q92618 (aka ZN516_HUMAN or Z516_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_014643.3
exon count: 7CDS single in 3' UTR: no RNA size: 8626
ORF size: 3493CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6096.00frame shift in genome: yes % Coverage: 99.99
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.